Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Class | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
---|
KDM1A | chr1 | 23388312 | 23388313 | rs145607556 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.982553 |
KDM1A | chr1 | 23388935 | 23388936 | rs79239858 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.982594 |
KDM1A | chr1 | 23389466 | 23389467 | rs75645451 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.028721 |
KDM1A | chr1 | 23389539 | 23389540 | rs79097771 | + | C | A/C | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.016536 |
KDM1A | chr1 | 23389690 | 23389690 | rs374128181 | + | - | -/GC/GG | insertion | intron | 2 | 1000GENOMES,DEVINE_LAB, | 2 | 0.858586 |
KDM1A | chr1 | 23389691 | 23389692 | rs112667286 | + | G | C/G | single | intron | 2 | 1000GENOMES,BUSHMAN, | 2 | 0.039450 |
KDM1A | chr1 | 23389691 | 23389691 | rs201069091 | + | - | -/C | insertion | intron | 1 | 1000GENOMES, | 2 | 0.934803 |
KDM1A | chr1 | 23389882 | 23389883 | rs115565522 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.989983 |
KDM1A | chr1 | 23390298 | 23390299 | rs10753553 | + | T | A/T | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.728721 |
KDM1A | chr1 | 23390643 | 23390644 | rs2294517 | - | A | C/T | single | intron | 17 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.781222 |
KDM1A | chr1 | 23391168 | 23391169 | rs544442 | - | T | A/G | single | intron | 5 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,SC_JCM,TISHKOFF, | 2 | 0.948165 |
KDM1A | chr1 | 23391774 | 23391775 | rs2235549 | - | G | A/C | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.734327 |
KDM1A | chr1 | 23392995 | 23392996 | rs7512264 | + | T | A/T | single | intron | 9 | 1000GENOMES,BUSHMAN,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SC_SNP,TISHKOFF,WI_SSAHASNP, | 2 | 0.054292 |
KDM1A | chr1 | 23394061 | 23394062 | rs2235548 | - | G | C/T | single | intron | 11 | 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA-UK,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.718464 |
KDM1A | chr1 | 23394567 | 23394568 | rs78066989 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.010017 |
KDM1A | chr1 | 23395954 | 23395955 | rs656053 | + | A | A/C | single | intron | 16 | 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.212301 |
KDM1A | chr1 | 23396082 | 23396083 | rs114211755 | + | T | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.010017 |
KDM1A | chr1 | 23396273 | 23396274 | rs721530 | + | C | C/T | single | intron | 20 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 3 | 0.291648 |
KDM1A | chr1 | 23396273 | 23396274 | rs376670064 | + | C | -/C/T | in-del | intron | 2 | ABI,KRIBB_YJKIM, | 2 | 0.252099 |
KDM1A | chr1 | 23397096 | 23397097 | rs6668936 | + | C | C/T | single | intron | 5 | 1000GENOMES,BCM_SSAHASNP,PJP,SC_SNP,TISHKOFF, | 2 | 0.966024 |
KDM1A | chr1 | 23397249 | 23397250 | rs10917348 | + | G | A/G | single | intron | 4 | 1000GENOMES,PJP,SC_SNP,TISHKOFF, | 2 | 0.034894 |
KDM1A | chr1 | 23397652 | 23397653 | rs592963 | + | A | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SC_JCM,TISHKOFF, | 2 | 0.984862 |
KDM1A | chr1 | 23397937 | 23397938 | rs116143248 | + | C | C/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.975610 |
KDM1A | chr1 | 23398064 | 23398065 | rs12409321 | + | C | C/T | single | intron | 15 | 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PERLEGEN,PJP,SSAHASNP,SSMP, | 2 | 0.615681 |
KDM1A | chr1 | 23398106 | 23398107 | rs117880319 | + | A | A/G | single | intron | 4 | 1000GENOMES,GMI,ILLUMINA,SSMP, | 2 | 0.987815 |
KDM1A | chr1 | 23398576 | 23398577 | rs549656 | - | G | C/G | single | intron | 7 | 1000GENOMES,COMPLETE_GENOMICS,HGSV,ILLUMINA,NHLBI-ESP,SC_JCM,TISHKOFF, | 2 | 0.984890 |
KDM1A | chr1 | 23399329 | 23399330 | rs576981 | + | C | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,SC_JCM, | 2 | 0.985780 |
KDM1A | chr1 | 23399931 | 23399932 | rs967605 | - | C | A/G | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.787080 |
KDM1A | chr1 | 23400968 | 23400969 | rs1952527 | - | T | A/G | single | intron | 12 | 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.664684 |
KDM1A | chr1 | 23400971 | 23400972 | rs1329282 | - | T | A/G | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.261384 |
KDM1A | chr1 | 23401256 | 23401257 | rs116236973 | + | T | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.010017 |
KDM1A | chr1 | 23401681 | 23401682 | rs6426783 | + | G | A/G | single | intron | 9 | 1000GENOMES,AFFY,BCM_SSAHASNP,GMI,ILLUMINA-UK,KRIBB_YJKIM,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.104907 |
KDM1A | chr1 | 23401765 | 23401766 | rs12085556 | + | G | C/G | single | intron | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.033513 |
KDM1A | chr1 | 23402018 | 23402019 | rs2869038 | - | G | C/T | single | intron | 14 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.282450 |
KDM1A | chr1 | 23402440 | 23402440 | rs202041889 | + | - | -/A | insertion | intron | 1 | 1000GENOMES, | 2 | 0.975207 |
KDM1A | chr1 | 23402789 | 23402793 | rs149580280 | + | AAGT | -/AAGT | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.021120 |
KDM1A | chr1 | 23403097 | 23403097 | rs34495254 | + | - | -/C | insertion | intron | 6 | 1000GENOMES,ABI,GMI,LUNTER,SSMP,TISHKOFF, | 2 | 0.721763 |
KDM1A | chr1 | 23403147 | 23403148 | rs476033 | + | G | A/G | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,KRIBB_YJKIM,SC_JCM,TSC-CSHL, | 2 | 0.023906 |
KDM1A | chr1 | 23403284 | 23403286 | rs3972658 | - | TC | -/GA | in-del | intron | 3 | 1000GENOMES,LUNTER,TSC-CSHL, | 2 | 0.013315 |
KDM1A | chr1 | 23403653 | 23403654 | rs74062856 | + | C | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA,ILLUMINA-UK,TISHKOFF, | 2 | 0.988532 |
KDM1A | chr1 | 23403935 | 23403936 | rs28675208 | + | A | A/C | single | intron | 4 | 1000GENOMES,BUSHMAN,SSAHASNP,TISHKOFF, | 2 | 0.965628 |
KDM1A | chr1 | 23404670 | 23404671 | rs4655145 | + | A | A/G | single | intron | 20 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.206349 |
KDM1A | chr1 | 23405793 | 23405794 | rs2072945 | - | A | G/T | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGBASE,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.785098 |
KDM1A | chr1 | 23405804 | 23405805 | rs114189394 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.015244 |
KDM1A | chr1 | 23405864 | 23405865 | rs72657829 | + | A | A/C | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.951697 |
KDM1A | chr1 | 23405871 | 23405872 | rs2072944 | - | T | A/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGBASE,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TSC-CSHL,YUSUKE, | 2 | 0.675697 |
KDM1A | chr1 | 23406245 | 23406246 | rs567151 | + | C | C/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,HGSV,SC_JCM,TISHKOFF, | 2 | 0.984890 |
KDM1A | chr1 | 23406414 | 23406415 | rs12088067 | + | T | A/T | single | intron | 4 | 1000GENOMES,BUSHMAN,SC_SNP,TISHKOFF, | 2 | 0.044475 |
KDM1A | chr1 | 23406484 | 23406485 | rs2235547 | - | C | C/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.451521 |
KDM1A | chr1 | 23406615 | 23406616 | rs12061192 | + | C | C/T | single | intron | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.962544 |
KDM1A | chr1 | 23406686 | 23406687 | rs671419 | - | C | A/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,HGSV,SC_JCM,TISHKOFF, | 2 | 0.015568 |
KDM1A | chr1 | 23406722 | 23406723 | rs12061244 | + | C | C/T | single | intron | 4 | 1000GENOMES,BUSHMAN,SC_SNP,TISHKOFF, | 2 | 0.965138 |
KDM1A | chr1 | 23407080 | 23407081 | rs12751560 | + | C | A/C | single | intron | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP, | 2 | 0.380365 |
KDM1A | chr1 | 23407096 | 23407097 | rs579098 | - | A | C/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.826047 |
KDM1A | chr1 | 23407217 | 23407218 | rs487001 | + | C | A/C | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SC_JCM,TISHKOFF, | 2 | 0.023394 |
KDM1A | chr1 | 23407283 | 23407284 | rs487821 | + | C | C/T | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SC_JCM,TISHKOFF, | 2 | 0.982569 |
KDM1A | chr1 | 23407711 | 23407712 | rs2072943 | - | G | C/G | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGBASE,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SI_EXO,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.272603 |
KDM1A | chr1 | 23408243 | 23408244 | rs12086789 | + | G | A/G | single | intron | 4 | 1000GENOMES,BUSHMAN,SC_SNP,TISHKOFF, | 2 | 0.039658 |
KDM1A | chr1 | 23409537 | 23409538 | rs2235546 | - | G | C/T | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SI_EXO,SSAHASNP,SSMP,YUSUKE, | 2 | 0.646264 |
MTHFR | chr1 | 11845945 | 11845946 | rs12023469 | + | C | C/T | single | intron,untranslated-3 | 6 | 1000GENOMES,GMI,HGSV,PJP,SC_SNP,SSMP, | 2 | 0.935839 |
MTHFR | chr1 | 11846251 | 11846252 | rs4846048 | + | G | A/G | single | intron,untranslated-3 | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.739574 |
MTHFR | chr1 | 11846269 | 11846270 | rs1057624 | - | T | A/G | single | intron,untranslated-3 | 4 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,LEE, | 2 | 0.989908 |
MTHFR | chr1 | 11846446 | 11846447 | rs4845884 | + | G | A/G | single | intron,untranslated-3 | 22 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.923480 |
MTHFR | chr1 | 11846741 | 11846742 | rs2184227 | - | C | A/G | single | intron,untranslated-3 | 9 | 1000GENOMES,ABI,CGAP-GAI,CSHL-HAPMAP,GMI,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.090367 |
MTHFR | chr1 | 11847435 | 11847436 | rs2184226 | - | T | A/G | single | intron,untranslated-3 | 11 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,CLINSEQ_SNP,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TSC-CSHL, | 2 | 0.940602 |
MTHFR | chr1 | 11847740 | 11847742 | rs35562212 | - | CT | -/AG | deletion | intron,untranslated-3 | 2 | 1000GENOMES,SNP500CANCER, | 3 | 0.004643 |
MTHFR | chr1 | 11847758 | 11847759 | rs3737966 | - | C | A/G | single | intron,untranslated-3 | 19 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SNP500CANCER,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.639547 |
MTHFR | chr1 | 11847771 | 11847772 | rs3820192 | - | G | A/C | single | intron,untranslated-3 | 7 | 1000GENOMES,BCM_SSAHASNP,ILLUMINA,SNP500CANCER,SSMP,TISHKOFF,YUSUKE, | 2 | 0.093000 |
MTHFR | chr1 | 11847860 | 11847861 | rs1537516 | - | G | C/T | single | intron,untranslated-3 | 11 | 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,GMI,ILLUMINA,KRIBB_YJKIM,SNP500CANCER,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.901821 |
MTHFR | chr1 | 11847901 | 11847902 | rs1537515 | - | C | G/T | single | intron,untranslated-3 | 9 | 1000GENOMES,ABI,CLINSEQ_SNP,GMI,ILLUMINA,SNP500CANCER,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.912761 |
MTHFR | chr1 | 11848138 | 11848139 | rs11559040 | - | G | C/T | single | intron,untranslated-3 | 11 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,SI_EXO,SSMP,TISHKOFF, | 2 | 0.881116 |
MTHFR | chr1 | 11848878 | 11848879 | rs2077360 | + | A | A/G | single | intron,untranslated-3 | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.055201 |
MTHFR | chr1 | 11848922 | 11848923 | rs114646114 | + | C | C/T | single | intron,untranslated-3 | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.986498 |
MTHFR | chr1 | 11848971 | 11848972 | rs72640221 | + | G | A/G | single | intron,untranslated-3 | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.094867 |
MTHFR | chr1 | 11850990 | 11850990 | rs200608598 | + | - | -/CA | insertion | intron | 1 | 1000GENOMES, | 2 | 0.973370 |
MTHFR | chr1 | 11851002 | 11851003 | rs3818762 | - | G | C/G | single | intron | 21 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,CGM_KYOTO,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,IMCJ-GDT,KRIBB_YJKIM,NHLBI-ESP,PHARMGKB_PPII,PJP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.744971 |
MTHFR | chr1 | 11851117 | 11851118 | rs7518348 | + | A | A/G | single | intron | 20 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGM_KYOTO,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.117108 |
MTHFR | chr1 | 11851184 | 11851185 | rs55686944 | + | C | C/T | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,BL,CGM_KYOTO,IGVC,ILLUMINA, | 2 | 0.975625 |
MTHFR | chr1 | 11851189 | 11851190 | rs182261953 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.011938 |
MTHFR | chr1 | 11851218 | 11851219 | rs45529133 | - | C | A/G | single | intron | 7 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,TISHKOFF, | 2 | 0.031193 |
MTHFR | chr1 | 11851234 | 11851235 | rs45483798 | - | C | A/G | single | intron | 4 | 1000GENOMES,CLINSEQ_SNP,NHLBI-ESP,PHARMGKB_PPII, | 2 | 0.016654 |
MTHFR | chr1 | 11851790 | 11851791 | rs116951275 | + | A | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.989991 |
MTHFR | chr1 | 11851926 | 11851927 | rs41394446 | - | C | A/G | single | intron | 4 | 1000GENOMES,EGP_SNPS,ILLUMINA,SSMP, | 2 | 0.018297 |
MTHFR | chr1 | 11851949 | 11851950 | rs6700268 | + | C | C/G | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.030331 |
MTHFR | chr1 | 11852109 | 11852110 | rs13306556 | - | C | A/G | single | intron | 11 | 1000GENOMES,BUSHMAN,CGM_KYOTO,EGP_SNPS,GMI,ILLUMINA,IMCJ-GDT,KRIBB_YJKIM,SNP500CANCER,SSMP,TISHKOFF, | 2 | 0.101653 |
MTHFR | chr1 | 11852240 | 11852241 | rs45578836 | - | C | C/G | single | intron | 7 | 1000GENOMES,EGP_SNPS,ILLUMINA,ILLUMINA-UK,SNP500CANCER,SSMP,TISHKOFF, | 2 | 0.020093 |
MTHFR | chr1 | 11852299 | 11852300 | rs1476413 | - | C | A/G | single | intron | 22 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,HGSV,ILLUMINA,IMCJ-GDT,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SNP500CANCER,SSMP,TISHKOFF,TSC-CSHL,UWGC, | 2 | 0.225798 |
MTHFR | chr1 | 11852515 | 11852516 | rs17375901 | + | C | C/T | single | intron | 10 | 1000GENOMES,CGM_KYOTO,EGP_SNPS,EXOME_CHIP,ILLUMINA,PAGE_STUDY,PERLEGEN,PHARMGKB_PPII,SSMP,TISHKOFF, | 2 | 0.971147 |
MTHFR | chr1 | 11852897 | 11852898 | rs45525835 | - | G | C/G | single | intron | 4 | 1000GENOMES,EGP_SNPS,ILLUMINA,SSMP, | 2 | 0.989508 |
MTHFR | chr1 | 11852968 | 11852969 | rs4846050 | + | T | C/T | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.967683 |
MTHFR | chr1 | 11853598 | 11853599 | rs7535669 | + | G | C/G | single | intron | 19 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.948698 |
MTHFR | chr1 | 11853679 | 11853680 | rs45444794 | - | G | C/T | single | intron | 3 | 1000GENOMES,EGP_SNPS,TISHKOFF, | 2 | 0.988288 |
MTHFR | chr1 | 11854670 | 11854671 | rs12121543 | + | C | A/C | single | intron | 16 | 1000GENOMES,AFFY,BUSHMAN,CGM_KYOTO,COMPLETE_GENOMICS,EGP_SNPS,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PHARMGKB_PPII,SC_SNP,SI_EXO,SNP500CANCER,SSMP,TISHKOFF, | 2 | 0.197415 |
MTHFR | chr1 | 11854754 | 11854755 | rs1994798 | - | G | C/T | single | intron | 30 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGBASE,HGSV,HUMANGENOME_JCVI,ILLUMINA,IMCJ-GDT,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,UWGC,WI_SSAHASNP, | 2 | 0.389116 |
MTHFR | chr1 | 11855037 | 11855038 | rs2066465 | - | C | A/G | single | intron | 10 | 1000GENOMES,BUSHMAN,EGP_SNPS,HGBASE,HGSV,ILLUMINA,ILLUMINA-UK,SSMP,TISHKOFF,UWGC, | 2 | 0.022183 |
MTHFR | chr1 | 11855866 | 11855867 | rs6541003 | + | G | A/G | single | intron | 20 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.621146 |
MTHFR | chr1 | 11855896 | 11855897 | rs45495691 | - | A | G/T | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,BL,EGP_SNPS,ILLUMINA,SSMP, | 2 | 0.042890 |
MTHFR | chr1 | 11856083 | 11856084 | rs45439601 | - | G | C/T | single | intron | 6 | 1000GENOMES,CGM_KYOTO,EGP_SNPS,HGSV,ILLUMINA,TISHKOFF, | 2 | 0.969088 |
MTHFR | chr1 | 11856820 | 11856821 | rs7545331 | + | G | C/G | single | intron | 16 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,HUMANGENOME_JCVI,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.923105 |
MTHFR | chr1 | 11856846 | 11856847 | rs17421462 | + | G | A/G | single | intron | 8 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP, | 2 | 0.050882 |
MTHFR | chr1 | 11857206 | 11857207 | rs45475403 | - | C | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS, | 2 | 0.018349 |
MTHFR | chr1 | 11857239 | 11857240 | rs7526128 | + | C | C/T | single | intron | 15 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.354338 |
MTHFR | chr1 | 11857380 | 11857381 | rs6541004 | + | T | C/T | single | intron | 17 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.848927 |
MTHFR | chr1 | 11857409 | 11857410 | rs7537955 | + | A | A/G | single | intron | 15 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.256164 |
MTHFR | chr1 | 11857524 | 11857525 | rs6541005 | + | A | A/T | single | intron | 10 | 1000GENOMES,ABI,BCM_SSAHASNP,BL,EGP_SNPS,ENSEMBL,GMI,PJP,SSAHASNP,WI_SSAHASNP, | 2 | 0.412844 |
MTHFR | chr1 | 11857525 | 11857526 | rs6541006 | + | A | A/T | single | intron | 13 | 1000GENOMES,BCM_SSAHASNP,BL,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,PJP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.117216 |
MTHFR | chr1 | 11857525 | 11857525 | rs201825647 | + | - | -/T | insertion | intron | 1 | 1000GENOMES, | 2 | 0.645546 |
MTHFR | chr1 | 11857575 | 11857576 | rs45577533 | - | T | A/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,SSMP,TISHKOFF, | 2 | 0.970183 |
MTHFR | chr1 | 11857710 | 11857711 | rs1572151 | - | T | A/G | single | intron | 10 | 1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TSC-CSHL, | 2 | 0.948652 |
MTHFR | chr1 | 11857787 | 11857788 | rs17421511 | + | G | A/G | single | intron | 12 | 1000GENOMES,AFFY,BCMHGSC_JDW,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.112166 |
MTHFR | chr1 | 11857924 | 11857925 | rs45449597 | - | C | G/T | single | intron | 8 | 1000GENOMES,EGP_SNPS,ENSEMBL,GMI,HGSV,ILLUMINA,PJP,SSMP, | 2 | 0.890826 |
MTHFR | chr1 | 11857925 | 11857926 | rs45608437 | - | G | C/T | single | intron | 7 | 1000GENOMES,EGP_SNPS,ENSEMBL,GMI,HGSV,PJP,SSMP, | 2 | 0.890367 |
MTHFR | chr1 | 11857950 | 11857951 | rs4846052 | + | T | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.543057 |
MTHFR | chr1 | 11858035 | 11858036 | rs17037388 | + | A | A/G | single | intron | 12 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SSMP,TISHKOFF, | 3 | 0.862720 |
MTHFR | chr1 | 11858323 | 11858324 | rs17421560 | + | G | A/G | single | intron | 8 | 1000GENOMES,EGP_SNPS,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.089535 |
MTHFR | chr1 | 11858362 | 11858363 | rs72640233 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.982553 |
MTHFR | chr1 | 11858402 | 11858403 | rs45533333 | - | C | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,SSMP, | 2 | 0.018349 |
MTHFR | chr1 | 11858549 | 11858550 | rs45504202 | - | C | A/G | single | intron | 9 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.111824 |
MTHFR | chr1 | 11858583 | 11858584 | rs41452445 | - | T | A/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,ILLUMINA,SSMP, | 2 | 0.985388 |
MTHFR | chr1 | 11858671 | 11858672 | rs4845885 | + | T | C/T | single | intron | 21 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 1.000000 |
MTHFR | chr1 | 11858956 | 11858957 | rs45553335 | - | T | A/G | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,HGSV,SSMP,TISHKOFF, | 2 | 0.887156 |
MTHFR | chr1 | 11859041 | 11859042 | rs45468191 | - | A | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS, | 2 | 0.017890 |
MTHFR | chr1 | 11859080 | 11859081 | rs45530331 | - | C | A/G | single | intron | 3 | 1000GENOMES,EGP_SNPS,TISHKOFF, | 2 | 0.014680 |
MTHFR | chr1 | 11859131 | 11859132 | rs80307360 | + | C | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,SSMP, | 2 | 0.981651 |
MTHFR | chr1 | 11859389 | 11859390 | rs77078602 | + | T | C/T | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SSMP, | 2 | 0.017890 |
MTHFR | chr1 | 11859605 | 11859606 | rs80038130 | + | T | G/T | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SSMP, | 2 | 0.017890 |
MTHFR | chr1 | 11859635 | 11859636 | rs74683406 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.017890 |
MTHFR | chr1 | 11859692 | 11859692 | rs199894986 | + | - | -/G | insertion | intron | 1 | 1000GENOMES, | 2 | 0.986226 |
MTHFR | chr1 | 11859700 | 11859701 | rs3766747 | - | T | A/C | single | intron | 6 | 1000GENOMES,GMI,HGSV,PJP,WI_SSAHASNP,YUSUKE, | 2 | 0.906948 |
MTHFR | chr1 | 11859746 | 11859747 | rs111847924 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,SSMP, | 2 | 0.018349 |
MTHFR | chr1 | 11859876 | 11859877 | rs45518732 | - | C | A/G | single | intron | 3 | 1000GENOMES,EGP_SNPS,GMI, | 2 | 0.014055 |
MTHFR | chr1 | 11859907 | 11859908 | rs45532338 | - | C | A/G | single | intron | 2 | 1000GENOMES,EGP_SNPS, | 2 | 0.020460 |
MTHFR | chr1 | 11859908 | 11859909 | rs7527897 | + | A | A/G | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.051048 |
MTHFR | chr1 | 11860116 | 11860117 | rs13306553 | - | A | C/T | single | intron | 9 | 1000GENOMES,EGP_SNPS,GMI,HGSV,ILLUMINA,IMCJ-GDT,KRIBB_YJKIM,SSMP,TISHKOFF, | 2 | 0.094567 |
MTHFR | chr1 | 11860119 | 11860120 | rs11121832 | + | T | C/T | single | intron | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,IMCJ-GDT,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.776261 |
MTHFR | chr1 | 11860454 | 11860455 | rs2066469 | - | C | A/G | single | intron | 7 | 1000GENOMES,EGP_SNPS,HGBASE,ILLUMINA,PHARMGKB_PPII,SNP500CANCER,UWGC, | 2 | 0.019910 |
MTHFR | chr1 | 11860457 | 11860458 | rs2066471 | - | C | A/G | single | intron | 17 | 1000GENOMES,BCMHGSC_JDW,CGM_KYOTO,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,HGBASE,ILLUMINA,IMCJ-GDT,PHARMGKB_PPII,SEQUENOM,SI_EXO,SNP500CANCER,SSMP,TISHKOFF,UWGC, | 2 | 0.105245 |
MTHFR | chr1 | 11860464 | 11860465 | rs13306567 | - | C | C/G | single | intron | 11 | 1000GENOMES,CGM_KYOTO,COMPLETE_GENOMICS,EGP_SNPS,ILLUMINA,IMCJ-GDT,PERLEGEN,PHARMGKB_PPII,SI_EXO,SNP500CANCER,SSMP, | 2 | 0.020140 |
MTHFR | chr1 | 11860682 | 11860683 | rs7533315 | + | T | C/T | single | intron | 21 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SNP500CANCER,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.799821 |
MTHFR | chr1 | 11860683 | 11860684 | rs35593468 | - | G | C/T | single | intron | 3 | 1000GENOMES,EGP_SNPS,SNP500CANCER, | 2 | 0.987230 |
MTHFR | chr1 | 11860806 | 11860807 | rs35464336 | - | C | A/G | single | intron | 6 | 1000GENOMES,EGP_SNPS,GMI,SNP500CANCER,SSMP,TISHKOFF, | 2 | 0.095680 |
MTHFR | chr1 | 11860842 | 11860843 | rs17037390 | + | G | A/G | single | intron | 13 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,SNP500CANCER,SSMP,TISHKOFF, | 2 | 0.148453 |
MTHFR | chr1 | 11860990 | 11860991 | rs45602238 | - | C | A/G | single | intron | 1 | EGP_SNPS, | 2 | 0.020270 |
MTHFR | chr1 | 11861663 | 11861664 | rs45577937 | - | G | C/T | single | intron | 2 | 1000GENOMES,EGP_SNPS, | 2 | 0.989474 |
MTHFR | chr1 | 11861854 | 11861855 | rs45603435 | - | A | C/T | single | intron | 7 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,SSMP,TISHKOFF, | 2 | 0.112282 |
MTHFR | chr1 | 11861952 | 11861952 | rs201401275 | + | - | -/CCTGGGC | insertion | intron | 1 | 1000GENOMES, | 2 | 0.982553 |
MTHFR | chr1 | 11862046 | 11862047 | rs17037396 | + | C | C/T | single | intron | 8 | 1000GENOMES,EGP_SNPS,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.901163 |
MTHFR | chr1 | 11862060 | 11862065 | rs71568355 | + | ACAGA | -/ACAGA | deletion | intron | 4 | 1000GENOMES,BL,HUMANGENOME_JCVI,LUNTER, | 2 | 0.025688 |
MTHFR | chr1 | 11862162 | 11862163 | rs17037397 | + | C | A/C | single | intron | 8 | 1000GENOMES,EGP_SNPS,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.054881 |
MTHFR | chr1 | 11862213 | 11862214 | rs9651118 | + | T | C/T | single | intron | 16 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP, | 2 | 0.214056 |
MTHFR | chr1 | 11862330 | 11862331 | rs7547068 | + | G | A/G | single | intron | 6 | 1000GENOMES,EGP_SNPS,HGSV,ILLUMINA-UK,SSMP,WI_SSAHASNP, | 2 | 0.017399 |
MTHFR | chr1 | 11862331 | 11862332 | rs7525338 | + | C | C/T | single | intron | 7 | 1000GENOMES,EGP_SNPS,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,WI_SSAHASNP, | 2 | 0.986948 |
MTHFR | chr1 | 11862337 | 11862338 | rs111541538 | + | C | C/G | single | intron | 3 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS, | 2 | 0.987168 |
MTHFR | chr1 | 11862518 | 11862520 | rs45449894 | - | AA | -/TT | deletion | intron | 4 | 1000GENOMES,EGP_SNPS,LUNTER,TISHKOFF, | 2 | 0.011364 |
MTHFR | chr1 | 11862533 | 11862534 | rs45589544 | - | A | -/T | deletion | intron | 6 | 1000GENOMES,CGM_KYOTO,EGP_SNPS,GMI,LUNTER,SSMP, | 2 | 0.104651 |
MTHFR | chr1 | 11862764 | 11862764 | rs55645287 | + | - | -/T | insertion | intron | 6 | 1000GENOMES,CGM_KYOTO,GMI,LUNTER,SSMP,TISHKOFF, | 2 | 0.912764 |
MTHFR | chr1 | 11862777 | 11862778 | rs17367504 | + | A | A/G | single | intron | 13 | 1000GENOMES,AFFY,BUSHMAN,CGM_KYOTO,COMPLETE_GENOMICS,EGP_SNPS,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,PAGE_STUDY,PERLEGEN,TISHKOFF, | 2 | 0.888629 |
MTHFR | chr1 | 11863276 | 11863277 | rs17037404 | + | G | A/G | single | intron | 7 | 1000GENOMES,EGP_SNPS,HGSV,ILLUMINA,KRIBB_YJKIM,PERLEGEN,TISHKOFF, | 2 | 0.027505 |
MTHFR | chr1 | 11863903 | 11863904 | rs3753588 | - | C | A/G | single | intron | 11 | 1000GENOMES,EGP_SNPS,GMI,IMCJ-GDT,KYUGEN,PERLEGEN,PHARMGKB_PPII,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.092083 |
MTHFR | chr1 | 11864148 | 11864149 | rs7553194 | + | G | A/G | single | intron | 9 | 1000GENOMES,GMI,ILLUMINA,IMCJ-GDT,KRIBB_YJKIM,PHARMGKB_PPII,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.096052 |
MTHFR | chr1 | 11864167 | 11864168 | rs3753587 | - | T | A/T | single | intron,near-gene-5 | 15 | 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,IMCJ-GDT,PHARMGKB_PPII,PJP,SC_SNP,SI_EXO,SSMP,TISHKOFF,YUSUKE, | 2 | 0.885636 |
MTHFR | chr1 | 11864261 | 11864262 | rs3753586 | - | T | A/G | single | intron,near-gene-5 | 9 | 1000GENOMES,EGP_SNPS,GMI,IMCJ-GDT,PHARMGKB_PPII,PJP,SSMP,WI_SSAHASNP,YUSUKE, | 2 | 0.948165 |
MTHFR | chr1 | 11864377 | 11864378 | rs3753585 | - | G | C/T | single | intron,near-gene-5 | 8 | 1000GENOMES,EGP_SNPS,GMI,IMCJ-GDT,PHARMGKB_PPII,SSMP,TISHKOFF,YUSUKE, | 2 | 0.947248 |
MTHFR | chr1 | 11864585 | 11864586 | rs3753584 | - | T | A/G | single | intron,near-gene-5 | 12 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PHARMGKB_PPII,SSMP,TISHKOFF,YUSUKE, | 2 | 0.880864 |
MTHFR | chr1 | 11865063 | 11865067 | rs3834045 | - | TTGC | -/GCAA | deletion | intron,near-gene-5 | 6 | 1000GENOMES,ABI,GMI,LUNTER,SSMP,YUSUKE, | 2 | 0.090909 |
MTHFR | chr1 | 11865068 | 11865069 | rs45513994 | - | T | -/AGCA | in-del | intron,near-gene-5 | 1 | PHARMGKB_PPII, | 2 | 0.070833 |
MTHFR | chr1 | 11865235 | 11865236 | rs17367629 | + | C | C/T | single | intron,near-gene-5 | 8 | 1000GENOMES,GMI,HGSV,ILLUMINA,PERLEGEN,PHARMGKB_PPII,SSMP,TISHKOFF, | 2 | 0.907328 |
MTHFR | chr1 | 11865249 | 11865250 | rs3753583 | - | G | C/T | single | intron,near-gene-5 | 7 | 1000GENOMES,GMI,ILLUMINA,KRIBB_YJKIM,PHARMGKB_PPII,SSMP,YUSUKE, | 2 | 0.986339 |
MTHFR | chr1 | 11865284 | 11865284 | rs3834044 | - | - | -/G | insertion | intron,near-gene-5 | 7 | 1000GENOMES,HGSV,LUNTER,PHARMGKB_PPII,SSMP,TISHKOFF,YUSUKE, | 2 | 0.880361 |
MTHFR | chr1 | 11865340 | 11865341 | rs45504095 | - | C | A/G | single | intron,near-gene-5 | 7 | 1000GENOMES,BUSHMAN,HGSV,ILLUMINA,ILLUMINA-UK,PHARMGKB_PPII,TISHKOFF, | 2 | 0.018315 |
MTHFR | chr1 | 11865541 | 11865542 | rs3753582 | - | A | G/T | single | intron,near-gene-5 | 8 | 1000GENOMES,HGSV,ILLUMINA,PERLEGEN,PHARMGKB_PPII,SSMP,TISHKOFF,YUSUKE, | 2 | 0.092450 |
MTHFR | chr1 | 11865663 | 11865664 | rs45440899 | - | T | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,HGSV,PHARMGKB_PPII,TISHKOFF, | 2 | 0.982110 |
MTHFR | chr1 | 11865803 | 11865804 | rs13306561 | - | A | C/T | single | intron,near-gene-5 | 11 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,ILLUMINA,ILLUMINA-UK,IMCJ-GDT,KRIBB_YJKIM,PHARMGKB_PPII,SSMP,TISHKOFF, | 2 | 0.149580 |
MTHFR | chr1 | 11865816 | 11865817 | rs45594036 | - | C | G/T | single | intron,near-gene-5 | 3 | 1000GENOMES,COMPLETE_GENOMICS,PHARMGKB_PPII, | 2 | 0.981651 |
MTHFR | chr1 | 11865816 | 11865816 | rs3834043 | - | - | -/G | insertion | intron,near-gene-5 | 3 | 1000GENOMES,LUNTER,YUSUKE, | 2 | 0.902663 |
MTHFR | chr1 | 11865824 | 11865824 | rs45518935 | - | - | -/G | insertion | intron,near-gene-5 | 2 | HGSV,PHARMGKB_PPII, | 2 | 0.914583 |
MTHFR | chr1 | 11866441 | 11866442 | rs111334345 | + | G | A/G | single | intron,near-gene-5 | 3 | 1000GENOMES,COMPLETE_GENOMICS,NHLBI-ESP, | 2 | 0.010550 |
MTHFR | chr1 | 11866450 | 11866451 | rs3737965 | - | G | C/T | single | intron,near-gene-5 | 6 | 1000GENOMES,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,SSMP,YUSUKE, | 2 | 0.944958 |
MTHFR | chr1 | 11866594 | 11866595 | rs45498791 | - | C | G/T | single | intron,near-gene-5 | 3 | 1000GENOMES,ILLUMINA,PHARMGKB_PPII, | 2 | 0.976585 |
PPOX | chr1 | 161136842 | 161136843 | rs2301287 | + | C | C/G | single | intron | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PJP,SC_JCM,SC_SNP,SI_EXO,SSMP,TISHKOFF,YUSUKE, | 2 | 0.625801 |
PPOX | chr1 | 161137457 | 161137458 | rs7544090 | + | G | A/G | single | intron | 6 | 1000GENOMES,BL,GMI,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.075298 |
PPOX | chr1 | 161138134 | 161138135 | rs2301288 | + | C | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,ILLUMINA,KRIBB_YJKIM,SSMP,YUSUKE, | 2 | 0.986012 |
PPOX | chr1 | 161139950 | 161139951 | rs12741203 | + | C | C/T | single | intron | 10 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SI_EXO,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.698079 |
PPOX | chr1 | 161142298 | 161142299 | rs117585611 | + | T | G/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.015666 |
PPOX | chr1 | 161142473 | 161142473 | rs5778197 | + | - | -/TTAG | insertion | intron | 10 | 1000GENOMES,ABI,BILGI_BIOE,BL,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,TISHKOFF, | 2 | 0.627523 |
PPOX | chr1 | 161143311 | 161143312 | rs11579514 | + | T | C/T | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.286567 |
PPOX | chr1 | 161143918 | 161143919 | rs112810680 | + | C | C/T | single | intron | 3 | 1000GENOMES,BCM-HGSC-SUB,ILLUMINA, | 2 | 0.946475 |
PPOX | chr1 | 161143932 | 161143933 | rs147487659 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.013774 |
PPOX | chr1 | 161143968 | 161143969 | rs11265561 | + | A | A/G | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.622323 |
PPOX | chr1 | 161145124 | 161145125 | rs3813621 | + | G | A/G | single | intron | 7 | 1000GENOMES,BUSHMAN,ILLUMINA,KRIBB_YJKIM,SSMP,TISHKOFF,YUSUKE, | 2 | 0.015254 |
ACP2 | chr11 | 47262505 | 47262506 | rs74961003 | + | A | A/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.989556 |
ACP2 | chr11 | 47262591 | 47262592 | rs11039143 | + | T | G/T | single | intron | 7 | 1000GENOMES,HGSV,ILLUMINA,ILLUMINA-UK,SC_SNP,SSMP,TISHKOFF, | 2 | 0.033846 |
ACP2 | chr11 | 47262647 | 47262648 | rs7933246 | + | G | C/G | single | intron | 13 | 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.357437 |
ACP2 | chr11 | 47262839 | 47262840 | rs2167080 | - | G | C/T | single | intron | 12 | 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,ENSEMBL,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.804945 |
ACP2 | chr11 | 47262992 | 47262993 | rs185717458 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.014692 |
ACP2 | chr11 | 47263059 | 47263060 | rs4752972 | + | C | C/T | single | intron | 12 | 1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,PJP,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.643936 |
ACP2 | chr11 | 47264043 | 47264044 | rs11039144 | + | G | A/G | single | intron | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,SC_SNP,SSMP,TISHKOFF, | 2 | 0.349453 |
ACP2 | chr11 | 47264528 | 47264529 | rs11039145 | + | C | C/T | single | intron | 7 | 1000GENOMES,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.966514 |
ACP2 | chr11 | 47264535 | 47264536 | rs113080778 | + | C | C/T | single | intron | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.988073 |
ACP2 | chr11 | 47265193 | 47265194 | rs7120158 | + | G | C/G | single | intron | 14 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,PERLEGEN,SC_SNP,SSMP,TISHKOFF, | 2 | 0.377112 |
ACP2 | chr11 | 47265542 | 47265543 | rs7109203 | + | T | C/T | single | intron | 15 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.487449 |
ACP2 | chr11 | 47265744 | 47265745 | rs74948330 | + | C | A/C | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,GMI,SSMP, | 2 | 0.268103 |
ACP2 | chr11 | 47266470 | 47266471 | rs75393320 | + | G | C/G | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.079743 |
ACP2 | chr11 | 47266539 | 47266540 | rs2242262 | - | G | A/C | single | intron | 12 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,SC_SNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.365140 |
ACP2 | chr11 | 47266761 | 47266762 | rs11039146 | + | G | A/G | single | intron,near-gene-3 | 6 | 1000GENOMES,ILLUMINA,ILLUMINA-UK,SC_SNP,SSMP,TISHKOFF, | 2 | 0.033486 |
ACP2 | chr11 | 47266807 | 47266808 | rs2242261 | - | T | A/C | single | intron,near-gene-3 | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PJP,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.639616 |
ACP2 | chr11 | 47268192 | 47268193 | rs144049011 | + | G | A/G | single | intron,near-gene-5 | 3 | 1000GENOMES,SSMP,TISHKOFF, | 2 | 0.040404 |
ACP2 | chr11 | 47268309 | 47268310 | rs35677603 | + | C | C/T | single | intron,near-gene-5 | 9 | 1000GENOMES,ABI,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.762123 |
ACP2 | chr11 | 47268436 | 47268437 | rs326225 | - | A | A/T | single | intron,near-gene-5 | 7 | 1000GENOMES,ABI,COMPLETE_GENOMICS,HGSV,ILLUMINA,KWOK,SC_JCM, | 2 | 0.061468 |
ACP2 | chr11 | 47268549 | 47268550 | rs7129661 | + | T | G/T | single | intron,near-gene-5 | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA-UK,PERLEGEN,SC_SNP,SSMP,TISHKOFF, | 2 | 0.479934 |
ACP2 | chr11 | 47268680 | 47268681 | rs78112449 | + | C | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.971254 |
ACP2 | chr11 | 47269128 | 47269129 | rs45603841 | - | C | A/G | single | intron,near-gene-5 | 7 | 1000GENOMES,HGSV,HUTTON_MAYO,ILLUMINA,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.033456 |
ACP2 | chr11 | 47269158 | 47269159 | rs4752973 | + | T | C/T | single | intron,near-gene-5 | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.367976 |
ACP2 | chr11 | 47269348 | 47269349 | rs12285351 | + | C | C/T | single | intron,near-gene-5 | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,SC_SNP,TISHKOFF, | 2 | 0.988073 |
ACP2 | chr11 | 47269368 | 47269369 | rs58528246 | + | C | C/T | single | intron,near-gene-5 | 6 | 1000GENOMES,HGSV,ILLUMINA,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.966514 |
ACP2 | chr11 | 47269935 | 47269936 | rs7118396 | + | C | C/T | single | intron,near-gene-5 | 19 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KYUGEN,PJP,SSMP,TISHKOFF, | 2 | 0.650261 |
FOXRED1 | chr11 | 126139312 | 126139313 | rs1786703 | + | T | A/T | single | intron,near-gene-5 | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.791225 |
FOXRED1 | chr11 | 126139935 | 126139936 | rs117439239 | + | C | C/G | single | intron,near-gene-5 | 2 | 1000GENOMES,GMI, | 2 | 0.988686 |
FOXRED1 | chr11 | 126140154 | 126140155 | rs111643701 | + | G | C/G | single | intron,near-gene-5 | 2 | 1000GENOMES,BCM-HGSC-SUB, | 2 | 0.015231 |
FOXRED1 | chr11 | 126140316 | 126140317 | rs78035999 | + | C | A/C | single | intron,near-gene-5 | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.059182 |
FOXRED1 | chr11 | 126140353 | 126140354 | rs634696 | + | G | A/G | single | intron,near-gene-5 | 23 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 4 | 0.762233 |
FOXRED1 | chr11 | 126140467 | 126140468 | rs478309 | + | A | A/G | single | intron,near-gene-5 | 24 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.218100 |
FOXRED1 | chr11 | 126141397 | 126141398 | rs34027332 | + | A | A/G | single | intron,ncRNA,missense | 1 | APPLERA_GI, | 2 | 0.987179 |
FOXRED1 | chr11 | 126142454 | 126142455 | rs111449842 | + | G | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.013761 |
FOXRED1 | chr11 | 126142471 | 126142473 | rs72195165 | + | CC | -/CC | deletion | intron | 6 | 1000GENOMES,DEVINE_LAB,GMI,LUNTER,SSMP,TISHKOFF, | 2 | 0.132231 |
FOXRED1 | chr11 | 126142763 | 126142764 | rs2298452 | + | C | C/T | single | intron | 10 | 1000GENOMES,AFFY,BGI,BUSHMAN,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,YUSUKE, | 2 | 0.917129 |
FOXRED1 | chr11 | 126142989 | 126142990 | rs113976905 | + | T | C/T | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,ILLUMINA,NHLBI-ESP, | 2 | 0.021101 |
FOXRED1 | chr11 | 126143698 | 126143699 | rs651864 | + | A | A/G | single | intron | 15 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.680587 |
FOXRED1 | chr11 | 126143947 | 126143948 | rs663312 | + | G | C/G | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA-UK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.687985 |
FOXRED1 | chr11 | 126144368 | 126144369 | rs665134 | + | C | C/T | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,GMI,SC_JCM,SSMP,TISHKOFF, | 2 | 0.853832 |
FOXRED1 | chr11 | 126144410 | 126144411 | rs10893492 | + | C | C/T | single | intron | 9 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,SC_SNP,SSMP,TISHKOFF, | 2 | 0.865842 |
FOXRED1 | chr11 | 126145930 | 126145931 | rs2276025 | + | T | C/T | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SC_SNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.291631 |
FOXRED1 | chr11 | 126146799 | 126146800 | rs73017360 | + | C | C/G | single | intron | 5 | 1000GENOMES,BGI,BUSHMAN,GMI,SSMP, | 2 | 0.910051 |
NDUFV1 | chr11 | 67374580 | 67374581 | rs1871043 | - | T | A/G | single | intron | 14 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,NHLBI-ESP,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.595932 |
NDUFV1 | chr11 | 67374700 | 67374701 | rs11227853 | + | G | A/G | single | intron | 4 | 1000GENOMES,ILLUMINA,SC_SNP,TISHKOFF, | 2 | 0.037750 |
NDUFV1 | chr11 | 67375161 | 67375162 | rs1382089 | - | T | A/G | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.034293 |
NDUFV1 | chr11 | 67375177 | 67375178 | rs112137440 | + | T | A/T | single | intron | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.042182 |
NDUFV1 | chr11 | 67375183 | 67375184 | rs7948073 | + | T | G/T | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.405396 |
NDUFV1 | chr11 | 67375334 | 67375335 | rs75750489 | + | C | C/T | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.972477 |
NDUFV1 | chr11 | 67375653 | 67375654 | rs111396223 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.041743 |
NDUFV1 | chr11 | 67376470 | 67376471 | rs74344930 | + | C | C/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.962844 |
NDUFV1 | chr11 | 67376786 | 67376787 | rs73490571 | + | C | A/C | single | intron | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.040788 |
NDUFV1 | chr11 | 67376862 | 67376863 | rs3741165 | + | T | C/T | single | intron | 8 | 1000GENOMES,AFFY,GMI,ILLUMINA,KRIBB_YJKIM,RIKENSNPRC,SSMP,YUSUKE, | 2 | 0.053325 |
NDUFV1 | chr11 | 67376886 | 67376887 | rs72932599 | + | G | C/G | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP, | 2 | 0.051489 |
NDUFV1 | chr11 | 67377561 | 67377562 | rs2514064 | - | G | C/T | single | intron | 21 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.056290 |
NDUFV1 | chr11 | 67377757 | 67377758 | rs11227856 | + | C | C/T | single | intron | 7 | 1000GENOMES,BUSHMAN,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SC_SNP,TISHKOFF, | 2 | 0.948478 |
NDUFV1 | chr11 | 67377786 | 67377787 | rs111907965 | + | C | C/T | single | intron,near-gene-3 | 4 | 1000GENOMES,BUSHMAN,ILLUMINA,TISHKOFF, | 2 | 0.983035 |
NDUFV1 | chr11 | 67377808 | 67377819 | rs111437532 | + | TGGGCTGGGGG | -/TGGGCTGGGGG | deletion | intron,near-gene-3 | 3 | 1000GENOMES,BUSHMAN,LUNTER, | 2 | 0.037156 |
NDUFV1 | chr11 | 67378228 | 67378229 | rs3016861 | + | T | G/T | single | intron,near-gene-3 | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.957967 |
NDUFV1 | chr11 | 67378706 | 67378707 | rs11227858 | + | G | G/T | single | intron | 5 | 1000GENOMES,ILLUMINA,NHLBI-ESP,SC_SNP,TISHKOFF, | 2 | 0.956010 |
NDUFV1 | chr11 | 67378837 | 67378838 | rs2306144 | + | C | A/C/G | single | intron | 5 | 1000GENOMES,NHLBI-ESP,RIKENSNPRC,SSMP,YUSUKE, | 2 | 0.957354 |
NDUFV1 | chr11 | 67379078 | 67379079 | rs112015076 | + | G | C/G | single | intron | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.013761 |
NDUFV1 | chr11 | 67379574 | 67379575 | rs12295232 | + | G | A/G | single | intron,near-gene-5 | 6 | 1000GENOMES,BUSHMAN,ILLUMINA,KRIBB_YJKIM,SC_SNP,TISHKOFF, | 2 | 0.052808 |
NDUFV1 | chr11 | 67379762 | 67379763 | rs4148958 | + | G | A/G | single | intron,near-gene-5 | 5 | 1000GENOMES,BGI,GMI,RIKENSNPRC,SSMP, | 2 | 0.010393 |
ACADS | chr12 | 121164489 | 121164490 | rs11065229 | + | C | A/C | single | intron | 9 | 1000GENOMES,AFFY,BGI,BUSHMAN,GMI,ILLUMINA,KRIBB_YJKIM,SC_SNP,SSMP, | 2 | 0.082822 |
ACADS | chr12 | 121164651 | 121164652 | rs11065230 | + | C | C/T | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,IMCJ-GDT,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.873597 |
ACADS | chr12 | 121165317 | 121165318 | rs77596870 | + | G | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SSMP, | 2 | 0.022477 |
ACADS | chr12 | 121165812 | 121165813 | rs148642194 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.987144 |
ACADS | chr12 | 121166162 | 121166163 | rs61239175 | + | C | C/T | single | intron | 5 | 1000GENOMES,GMI,HGSV,ILLUMINA,SSMP, | 2 | 0.953438 |
ACADS | chr12 | 121166454 | 121166455 | rs61624288 | + | G | A/G | single | intron | 7 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.029331 |
ACADS | chr12 | 121167038 | 121167039 | rs7978125 | + | A | A/G | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.475193 |
ACADS | chr12 | 121167195 | 121167196 | rs12425598 | + | T | C/T | single | intron | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.023853 |
ACADS | chr12 | 121167386 | 121167387 | rs3999408 | - | C | A/G | single | intron | 14 | 1000GENOMES,ABI,BUSHMAN,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.198471 |
ACADS | chr12 | 121167743 | 121167744 | rs10849781 | + | C | A/C | single | intron | 10 | 1000GENOMES,AFFY,BGI,CSHL-HAPMAP,GMI,ILLUMINA,KRIBB_YJKIM,PJP,SC_SNP,SSMP, | 2 | 0.088599 |
ACADS | chr12 | 121168030 | 121168031 | rs111999968 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,SSMP, | 2 | 0.034404 |
ACADS | chr12 | 121168072 | 121168073 | rs3794216 | - | C | C/G | single | intron | 3 | 1000GENOMES,SSMP,YUSUKE, | 2 | 0.022039 |
ACADS | chr12 | 121168082 | 121168083 | rs3794215 | - | T | A/G | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.468582 |
ACADS | chr12 | 121168244 | 121168245 | rs3794214 | - | T | A/G | single | intron | 20 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.448314 |
ACADS | chr12 | 121168570 | 121168571 | rs150146692 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.989899 |
ACADS | chr12 | 121168602 | 121168602 | rs3838807 | - | - | -/CA | insertion | intron | 7 | 1000GENOMES,ABI,BILGI_BIOE,DEVINE_LAB,GMI,LUNTER,YUSUKE, | 2 | 0.388430 |
ACADS | chr12 | 121168603 | 121168603 | rs63009860 | + | - | -/GC/GT/TG | insertion | intron | 6 | 1000GENOMES,DEVINE_LAB,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.412844 |
ACADS | chr12 | 121168616 | 121168617 | rs75148250 | + | T | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.010453 |
ACADS | chr12 | 121169355 | 121169356 | rs11065231 | + | C | A/C | single | intron | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSMP, | 2 | 0.520567 |
ACADS | chr12 | 121169435 | 121169436 | rs696339 | - | A | A/T | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_SNP,SSAHASNP,SSMP, | 2 | 0.598627 |
ACADS | chr12 | 121170094 | 121170095 | rs11065232 | + | C | A/C | single | intron | 3 | 1000GENOMES,SC_SNP,SSMP, | 2 | 0.127181 |
ACADS | chr12 | 121170256 | 121170257 | rs34346357 | + | T | C/T | single | intron | 6 | 1000GENOMES,ABI,HGSV,HUMANGENOME_JCVI,PJP,SSMP, | 2 | 0.369266 |
ACADS | chr12 | 121170271 | 121170272 | rs11065233 | + | T | C/T | single | intron | 7 | 1000GENOMES,ABI,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSMP, | 2 | 0.485780 |
ACADS | chr12 | 121170338 | 121170339 | rs34491494 | + | C | C/T | single | intron | 7 | 1000GENOMES,ABI,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSMP, | 2 | 0.604950 |
ACADS | chr12 | 121170345 | 121170346 | rs148589034 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.027089 |
ACADS | chr12 | 121170637 | 121170638 | rs190188111 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.952250 |
ACADS | chr12 | 121171036 | 121171037 | rs113979967 | + | G | G/T | single | intron | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,TISHKOFF, | 2 | 0.974794 |
ACADS | chr12 | 121171059 | 121171060 | rs11065234 | + | G | A/G | single | intron | 4 | 1000GENOMES,BGI,GMI,SC_SNP, | 2 | 0.077594 |
ACADS | chr12 | 121171236 | 121171237 | rs708781 | - | G | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA,KWOK,TSC-CSHL, | 2 | 0.979835 |
ACADS | chr12 | 121171338 | 121171353 | rs67132258 | + | TGCCTGCTGAAATGG | lengthTooLong | in-del | intron,cds-indel | 3 | 1000GENOMES,DEVINE_LAB,LUNTER, | 2 | 0.612489 |
ACADS | chr12 | 121171802 | 121171803 | rs558314 | - | C | C/G | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.732453 |
ACADS | chr12 | 121171887 | 121171888 | rs12368617 | + | G | A/G | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,GMI,ILLUMINA,SC_SNP,SSMP, | 2 | 0.013761 |
ACADS | chr12 | 121171890 | 121171891 | rs34673751 | + | G | A/G | single | intron | 11 | 1000GENOMES,ABI,BGI,BUSHMAN,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,PJP,SSMP,TISHKOFF, | 2 | 0.184355 |
ACADS | chr12 | 121172222 | 121172223 | rs7957395 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,WI_SSAHASNP, | 2 | 0.010889 |
ACADS | chr12 | 121172265 | 121172266 | rs11065235 | + | C | C/T | single | intron | 8 | 1000GENOMES,AFFY,BGI,GMI,ILLUMINA,KRIBB_YJKIM,SC_SNP,SSMP, | 2 | 0.915943 |
ACADS | chr12 | 121172921 | 121172922 | rs148270270 | + | A | A/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.972911 |
ACADS | chr12 | 121173030 | 121173031 | rs7312316 | + | T | C/T | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,ENSEMBL,GMI,SSMP, | 2 | 0.538038 |
ACADS | chr12 | 121173100 | 121173104 | rs144390141 | + | AAAC | -/AAAC | deletion | intron | 3 | 1000GENOMES,LUNTER,SSMP, | 2 | 0.122590 |
ACADS | chr12 | 121173162 | 121173162 | rs201595000 | + | - | -/C | insertion | intron | 1 | 1000GENOMES, | 2 | 0.926997 |
ACADS | chr12 | 121173385 | 121173386 | rs56232241 | + | T | C/T | single | intron | 4 | 1000GENOMES,BCM-HGSC-SUB,HGSV,TISHKOFF, | 2 | 0.033507 |
ACADS | chr12 | 121173430 | 121173431 | rs575437 | + | T | C/T | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.551598 |
ACADS | chr12 | 121173652 | 121173653 | rs696340 | + | A | A/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.526916 |
ACADS | chr12 | 121173751 | 121173752 | rs80005880 | + | A | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.945557 |
ACADS | chr12 | 121173798 | 121173816 | rs201057576 | + | TCCCTGTCCCCGTCC | -/TCCCTGTCCCCGT | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.021579 |
ACADS | chr12 | 121173809 | 121173815 | rs146046379 | + | GTCCCT | -/GTCCCT | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.047750 |
ACADS | chr12 | 121173827 | 121173833 | rs200960176 | + | GTCCCT | -/GTCCCT | deletion | intron | 1 | 1000GENOMES, | 2 | 0.021579 |
ACADS | chr12 | 121173931 | 121173932 | rs708783 | + | A | A/G | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA-UK,KWOK,PJP,SC_JCM,SSMP, | 2 | 0.384369 |
ACADS | chr12 | 121173973 | 121173973 | rs59063082 | + | - | -/G | insertion | intron | 8 | 1000GENOMES,BILGI_BIOE,BUSHMAN,GMI,HGSV,LUNTER,SSMP,TISHKOFF, | 2 | 0.734404 |
ACADS | chr12 | 121174312 | 121174313 | rs115132997 | + | A | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.961237 |
ACADS | chr12 | 121174764 | 121174765 | rs112669327 | + | C | C/T | single | intron | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.972477 |
ACADS | chr12 | 121175484 | 121175485 | rs2239687 | + | C | A/C | single | intron | 5 | 1000GENOMES,GMI,SC_SNP,SSMP,YUSUKE, | 2 | 0.084856 |
ACADS | chr12 | 121175490 | 121175491 | rs12231499 | + | T | G/T | single | intron | 5 | 1000GENOMES,GMI,IMCJ-GDT,SC_SNP,SSMP, | 2 | 0.077452 |
ACADS | chr12 | 121175523 | 121175524 | rs2014355 | + | T | C/T | single | intron | 13 | 1000GENOMES,ABI,AFFY,BGI,BUSHMAN,EXOME_CHIP,GMI,HUMANGENOME_JCVI,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.164092 |
ACADS | chr12 | 121175559 | 121175560 | rs695950 | - | G | C/G | single | intron | 16 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.778677 |
ACADS | chr12 | 121175561 | 121175562 | rs117636828 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.023064 |
ACADS | chr12 | 121175609 | 121175610 | rs117000908 | + | G | A/G | single | intron | 5 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP,SSMP, | 2 | 0.021035 |
ACADS | chr12 | 121175983 | 121175984 | rs555404 | + | T | C/T | single | intron | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.567517 |
ACADS | chr12 | 121176292 | 121176293 | rs17848090 | + | C | C/T | single | intron | 6 | 1000GENOMES,BGI,CLINSEQ_SNP,IMCJ-GDT,NHLBI-ESP,SSMP, | 2 | 0.934360 |
ACADS | chr12 | 121176548 | 121176549 | rs487915 | + | C | C/T | single | intron | 11 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,IMCJ-GDT,KWOK,SC_JCM,SSMP,YUSUKE, | 2 | 0.916209 |
ACADS | chr12 | 121176769 | 121176770 | rs2071266 | + | C | C/T | single | intron | 8 | 1000GENOMES,BGI,GMI,HGBASE,IMCJ-GDT,NHLBI-ESP,SSMP,YUSUKE, | 2 | 0.922936 |
ACADS | chr12 | 121176803 | 121176803 | rs57852948 | + | - | -/C | insertion | intron | 8 | 1000GENOMES,DEVINE_LAB,GMI,HGSV,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.882461 |
ACADS | chr12 | 121176901 | 121176902 | rs140372512 | + | G | A/G | single | intron | 5 | 1000GENOMES,CLINSEQ_SNP,NHLBI-ESP,SSMP,WARNICH_LAB, | 2 | 0.015353 |
COQ6 | chr14 | 74416664 | 74416665 | rs17094157 | + | T | C/T | single | intron,near-gene-5,untranslated-5 | 9 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,GMI,ILLUMINA,KYUGEN,NHLBI-ESP,PERLEGEN,SSMP, | 3 | 0.084197 |
COQ6 | chr14 | 74416936 | 74416937 | rs17094164 | + | G | C/G | single | intron,near-gene-5,untranslated-5 | 3 | 1000GENOMES,PERLEGEN,TISHKOFF, | 2 | 0.013603 |
COQ6 | chr14 | 74416944 | 74416945 | rs17552038 | + | G | C/G | single | intron,near-gene-5,untranslated-5 | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,KYUGEN,PJP,SI_EXO,SSMP, | 2 | 0.107045 |
COQ6 | chr14 | 74416995 | 74416996 | rs78801603 | + | G | G/T | single | intron,untranslated-5 | 3 | 1000GENOMES,ILLUMINA,NHLBI-ESP, | 2 | 0.972561 |
COQ6 | chr14 | 74417208 | 74417209 | rs60369619 | + | C | C/T | single | intron,near-gene-5 | 6 | 1000GENOMES,BUSHMAN,HGSV,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.984876 |
COQ6 | chr14 | 74417487 | 74417488 | rs76260393 | + | T | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.016986 |
COQ6 | chr14 | 74417554 | 74417555 | rs112218167 | + | T | G/T | single | intron,near-gene-5 | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.051376 |
COQ6 | chr14 | 74417597 | 74417598 | rs11850082 | + | C | A/C | single | intron,near-gene-5 | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.014207 |
COQ6 | chr14 | 74417608 | 74417609 | rs59892091 | + | T | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,GMI,HGSV,SSMP, | 2 | 0.090157 |
COQ6 | chr14 | 74417649 | 74417650 | rs11850094 | + | C | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.979167 |
COQ6 | chr14 | 74417711 | 74417712 | rs11850097 | + | A | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.988543 |
COQ6 | chr14 | 74417797 | 74417798 | rs8013496 | + | G | C/G | single | intron,near-gene-5 | 13 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.363969 |
COQ6 | chr14 | 74417912 | 74417913 | rs112260439 | + | G | G/T | single | intron,near-gene-5 | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.985780 |
COQ6 | chr14 | 74418065 | 74418066 | rs114383382 | + | G | C/G | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.013937 |
COQ6 | chr14 | 74418140 | 74418141 | rs11628276 | + | G | A/G | single | intron,near-gene-5 | 10 | 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SSMP,TISHKOFF, | 2 | 0.248856 |
COQ6 | chr14 | 74418587 | 74418588 | rs66712197 | + | G | A/G | single | intron,near-gene-5 | 8 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP, | 2 | 0.105769 |
COQ6 | chr14 | 74418749 | 74418750 | rs72723772 | + | T | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.021120 |
COQ6 | chr14 | 74418969 | 74418970 | rs77680522 | + | C | C/T | single | intron,near-gene-5 | 5 | 1000GENOMES,BGI,GMI,SSMP,TISHKOFF, | 2 | 0.859045 |
COQ6 | chr14 | 74419190 | 74419191 | rs10459544 | + | C | C/G | single | intron | 15 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.164765 |
COQ6 | chr14 | 74419208 | 74419209 | rs10459545 | + | A | A/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.339100 |
COQ6 | chr14 | 74419245 | 74419246 | rs191928320 | + | A | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.989440 |
COQ6 | chr14 | 74419246 | 74419247 | rs10459546 | + | A | A/T | single | intron | 10 | 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_SNP,SSMP, | 2 | 0.881410 |
COQ6 | chr14 | 74419354 | 74419355 | rs111553135 | + | C | C/T | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.968349 |
COQ6 | chr14 | 74419526 | 74419527 | rs141219050 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.986226 |
COQ6 | chr14 | 74419641 | 74419642 | rs10459547 | + | G | G/T | single | intron | 11 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP, | 2 | 0.892955 |
COQ6 | chr14 | 74419824 | 74419825 | rs4903159 | + | G | A/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.659893 |
COQ6 | chr14 | 74420029 | 74420030 | rs112742205 | + | T | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.018807 |
COQ6 | chr14 | 74420108 | 74420109 | rs60157646 | + | T | G/T | single | intron | 8 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,TISHKOFF, | 2 | 0.022334 |
COQ6 | chr14 | 74420126 | 74420127 | rs3213692 | - | C | A/G | single | intron | 13 | 1000GENOMES,BCM-HGSC-SUB,BGI,CLINSEQ_SNP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,NHLBI-ESP,PJP,SSAHASNP,SSMP,YUSUKE, | 2 | 0.238280 |
COQ6 | chr14 | 74420126 | 74420127 | rs200558787 | + | C | -/C | deletion | intron | 1 | 1000GENOMES, | 2 | 0.216253 |
COQ6 | chr14 | 74420439 | 74420440 | rs17094182 | + | C | A/C | single | intron | 9 | 1000GENOMES,AFFY,BGI,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.161667 |
COQ6 | chr14 | 74420524 | 74420527 | rs143983947 | + | TGT | -/TGT | deletion | intron | 4 | 1000GENOMES,BL,GMI,LUNTER, | 2 | 0.050046 |
COQ6 | chr14 | 74420620 | 74420620 | rs146800451 | + | - | -/AG | insertion | intron | 3 | 1000GENOMES,GMI,LUNTER, | 2 | 0.915519 |
COQ6 | chr14 | 74420921 | 74420922 | rs11629101 | + | T | C/T | single | intron | 8 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,SSMP,TISHKOFF, | 2 | 0.342159 |
COQ6 | chr14 | 74421149 | 74421152 | rs200188951 | + | AAC | -/AAC | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.013774 |
COQ6 | chr14 | 74421211 | 74421212 | rs2079632 | - | C | C/G | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.873028 |
COQ6 | chr14 | 74421320 | 74421321 | rs2098030 | - | C | A/G | single | intron | 10 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,ENSEMBL,SC_JCM,SSAHASNP,SSMP,TSC-CSHL, | 2 | 0.103022 |
COQ6 | chr14 | 74421375 | 74421376 | rs140936556 | + | C | A/C | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.013774 |
COQ6 | chr14 | 74421411 | 74421412 | rs117895742 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.977372 |
COQ6 | chr14 | 74421532 | 74421533 | rs150260008 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.769054 |
COQ6 | chr14 | 74421541 | 74421542 | rs139022996 | + | G | A/G | single | intron | 2 | 1000GENOMES,GMI, | 2 | 0.328283 |
COQ6 | chr14 | 74421565 | 74421566 | rs191731397 | + | T | A/T | single | intron | 2 | 1000GENOMES,GMI, | 2 | 0.248852 |
COQ6 | chr14 | 74421565 | 74421566 | rs201876533 | + | T | -/T | deletion | intron | 1 | 1000GENOMES, | 2 | 0.241506 |
COQ6 | chr14 | 74421625 | 74421626 | rs115919509 | + | A | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.970819 |
COQ6 | chr14 | 74421646 | 74421647 | rs113358234 | + | T | A/T | single | intron | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI, | 2 | 0.351971 |
COQ6 | chr14 | 74421661 | 74421662 | rs188075790 | + | T | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.046373 |
COQ6 | chr14 | 74421680 | 74421681 | rs189541577 | + | G | G/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.970156 |
COQ6 | chr14 | 74422328 | 74422329 | rs2302118 | - | G | C/G | single | intron | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.812666 |
COQ6 | chr14 | 74422385 | 74422386 | rs75531541 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.980418 |
COQ6 | chr14 | 74422801 | 74422802 | rs188395141 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.977043 |
COQ6 | chr14 | 74422802 | 74422803 | rs112488013 | + | G | A/G | single | intron | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.025618 |
COQ6 | chr14 | 74422842 | 74422843 | rs1972538 | - | T | A/G | single | intron | 10 | 1000GENOMES,ABI,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.778185 |
COQ6 | chr14 | 74422853 | 74422854 | rs113608012 | + | T | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,SSMP, | 2 | 0.011009 |
COQ6 | chr14 | 74422903 | 74422904 | rs112175736 | + | G | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.018781 |
COQ6 | chr14 | 74422922 | 74422923 | rs1985969 | - | T | A/G | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.526484 |
COQ6 | chr14 | 74423217 | 74423218 | rs10148057 | + | C | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,WI_SSAHASNP, | 2 | 0.983821 |
COQ6 | chr14 | 74423356 | 74423363 | rs143222231 | + | TCCACTT | -/TCCACTT | deletion | intron | 4 | 1000GENOMES,GMI,LUNTER,PJP, | 2 | 0.327365 |
COQ6 | chr14 | 74423517 | 74423518 | rs75446133 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.986498 |
COQ6 | chr14 | 74423658 | 74423659 | rs11623965 | + | T | C/T | single | intron | 7 | 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,ENSEMBL,GMI,SSMP, | 2 | 0.235133 |
COQ6 | chr14 | 74423781 | 74423782 | rs11850995 | + | C | C/T | single | intron | 7 | 1000GENOMES,ABI,AFFY,CSHL-HAPMAP,ENSEMBL,ILLUMINA,KRIBB_YJKIM, | 2 | 0.977887 |
COQ6 | chr14 | 74423800 | 74423801 | rs181739324 | + | A | A/T | single | intron | 2 | 1000GENOMES,GMI, | 2 | 0.943526 |
COQ6 | chr14 | 74423803 | 74423804 | rs4903160 | + | A | A/T | single | intron | 5 | 1000GENOMES,CSHL-HAPMAP,ENSEMBL,GMI,WI_SSAHASNP, | 2 | 0.719523 |
COQ6 | chr14 | 74423803 | 74423804 | rs200787774 | + | A | -/A | deletion | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.280533 |
COQ6 | chr14 | 74423805 | 74423805 | rs201739413 | + | - | -/TA | insertion | intron | 1 | 1000GENOMES, | 2 | 0.797521 |
COQ6 | chr14 | 74423806 | 74423806 | rs199572425 | + | - | -/A | insertion | intron | 2 | 1000GENOMES,GMI, | 2 | 0.797980 |
COQ6 | chr14 | 74423836 | 74423837 | rs60611458 | + | G | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,HGSV,TISHKOFF, | 2 | 0.022477 |
COQ6 | chr14 | 74423955 | 74423956 | rs62006130 | + | G | A/G | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.318515 |
COQ6 | chr14 | 74424201 | 74424202 | rs77803340 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.029617 |
COQ6 | chr14 | 74424258 | 74424259 | rs114800916 | + | G | G/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.984756 |
COQ6 | chr14 | 74424264 | 74424265 | rs62006131 | + | T | A/C/T | single | intron | 8 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.345995 |
COQ6 | chr14 | 74424490 | 74424491 | rs17782310 | + | T | C/T | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,GMI,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.222653 |
COQ6 | chr14 | 74424543 | 74424544 | rs79537722 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.014373 |
COQ6 | chr14 | 74424740 | 74424741 | rs10151933 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,WI_SSAHASNP, | 2 | 0.012722 |
COQ6 | chr14 | 74425055 | 74425056 | rs3764859 | - | C | G/T | single | intron | 19 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SI_EXO,SSMP,TISHKOFF,YUSUKE, | 2 | 0.679628 |
COQ6 | chr14 | 74426313 | 74426314 | rs57268226 | + | A | A/G | single | intron | 3 | 1000GENOMES,HGSV,TISHKOFF, | 2 | 0.985192 |
COQ6 | chr14 | 74426374 | 74426375 | rs145747095 | + | C | C/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.914141 |
COQ6 | chr14 | 74426671 | 74426672 | rs2072291 | - | C | A/G | single | intron | 22 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGBASE,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.614831 |
COQ6 | chr14 | 74426853 | 74426854 | rs740505 | + | T | C/T | single | intron | 15 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.139264 |
COQ6 | chr14 | 74426929 | 74426930 | rs740504 | + | A | A/G | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.856322 |
COQ6 | chr14 | 74426941 | 74426942 | rs10873263 | + | A | A/C | single | intron | 11 | 1000GENOMES,ABI,AFFY,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,KRIBB_YJKIM,PJP,SSMP,TISHKOFF, | 2 | 0.808896 |
COQ6 | chr14 | 74426970 | 74426971 | rs34468446 | + | A | A/G | single | intron | 9 | 1000GENOMES,ABI,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.879689 |
COQ6 | chr14 | 74427404 | 74427405 | rs2098029 | - | C | A/G | single | intron | 11 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TSC-CSHL, | 2 | 0.090577 |
COQ6 | chr14 | 74427405 | 74427406 | rs115579294 | + | G | A/G | single | intron | 4 | 1000GENOMES,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.010889 |
COQ6 | chr14 | 74427624 | 74427625 | rs75088275 | + | G | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.015244 |
COQ6 | chr14 | 74427673 | 74427674 | rs79246780 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.974325 |
COQ6 | chr14 | 74428285 | 74428286 | rs7141392 | + | A | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.145259 |
COQ6 | chr14 | 74428337 | 74428338 | rs116737018 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.984756 |
COQ6 | chr14 | 74428850 | 74428851 | rs12880050 | + | A | A/G | single | intron | 11 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP, | 2 | 0.899360 |
COQ6 | chr14 | 74429090 | 74429091 | rs72627141 | + | T | C/T | single | intron | 6 | 1000GENOMES,BGI,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.153391 |
COQ6 | chr14 | 74429124 | 74429125 | rs113145643 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.022018 |
COQ6 | chr14 | 74429132 | 74429133 | rs7147088 | + | A | A/G | single | intron | 11 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.653705 |
COQ6 | chr14 | 74429136 | 74429137 | rs7147229 | + | C | C/G | single | intron | 10 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.765811 |
COQ6 | chr14 | 74429409 | 74429411 | rs57794133 | + | TA | -/TA | deletion | intron | 13 | 1000GENOMES,BCMHGSC_JDW,BILGI_BIOE,BL,BUSHMAN,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.614011 |
COQ6 | chr14 | 74429412 | 74429413 | rs200726437 | + | A | -/A | deletion | intron | 1 | 1000GENOMES, | 2 | 0.271809 |
L2HGDH | chr14 | 50714128 | 50714129 | rs17122318 | + | A | A/G | single | intron | 3 | 1000GENOMES,PERLEGEN,TISHKOFF, | 2 | 0.969298 |
L2HGDH | chr14 | 50714180 | 50714181 | rs143645778 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.988062 |
L2HGDH | chr14 | 50714193 | 50714194 | rs737077 | + | C | C/T | single | intron | 14 | 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.673541 |
L2HGDH | chr14 | 50714273 | 50714274 | rs737078 | + | C | C/T | single | intron | 22 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.456721 |
L2HGDH | chr14 | 50714331 | 50714332 | rs737079 | + | C | A/C | single | intron | 12 | 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,PJP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.328963 |
L2HGDH | chr14 | 50714711 | 50714712 | rs761817 | + | T | C/T | single | intron | 19 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.908801 |
L2HGDH | chr14 | 50714984 | 50714985 | rs743075 | - | T | A/G | single | intron | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.451149 |
L2HGDH | chr14 | 50714992 | 50714993 | rs79961648 | + | A | A/C | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.963415 |
L2HGDH | chr14 | 50715218 | 50715219 | rs743076 | + | A | A/G | single | intron | 11 | 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,KRIBB_YJKIM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.714386 |
L2HGDH | chr14 | 50715274 | 50715275 | rs74699989 | + | C | A/C | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.010453 |
L2HGDH | chr14 | 50715563 | 50715564 | rs7155191 | + | T | C/T | single | intron | 13 | 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.330137 |
L2HGDH | chr14 | 50715641 | 50715642 | rs10136539 | + | C | C/T | single | intron | 12 | 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.688563 |
L2HGDH | chr14 | 50715861 | 50715862 | rs2092897 | + | T | C/T | single | intron | 5 | ABI,ILLUMINA,KRIBB_YJKIM,SC_JCM,TSC-CSHL, | 2 | 0.422053 |
L2HGDH | chr14 | 50716265 | 50716266 | rs67871518 | + | C | C/T | single | intron | 7 | 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.674908 |
L2HGDH | chr14 | 50716287 | 50716288 | rs66726816 | + | C | C/T | single | intron | 7 | 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.674908 |
L2HGDH | chr14 | 50716577 | 50716578 | rs73275103 | + | C | C/T | single | intron | 8 | 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.725149 |
L2HGDH | chr14 | 50716649 | 50716650 | rs61982731 | + | C | C/T | single | intron | 9 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.747021 |
L2HGDH | chr14 | 50717393 | 50717394 | rs80343828 | + | C | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.989547 |
L2HGDH | chr14 | 50717447 | 50717448 | rs4901002 | + | G | C/G | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.583090 |
L2HGDH | chr14 | 50718720 | 50718721 | rs57075287 | + | T | C/T | single | intron | 3 | 1000GENOMES,HGSV,TISHKOFF, | 2 | 0.036150 |
L2HGDH | chr14 | 50719001 | 50719002 | rs11628216 | + | C | C/T | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.128545 |
L2HGDH | chr14 | 50719074 | 50719075 | rs140009986 | + | A | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.979798 |
L2HGDH | chr14 | 50719213 | 50719214 | rs76691238 | + | A | -/A | deletion | intron | 6 | 1000GENOMES,BGI,GMI,LUNTER,SSMP,TISHKOFF, | 2 | 0.320478 |
L2HGDH | chr14 | 50719259 | 50719260 | rs11628296 | + | C | C/T | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.741112 |
L2HGDH | chr14 | 50719614 | 50719615 | rs10149715 | + | G | A/G | single | intron | 10 | 1000GENOMES,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.332310 |
L2HGDH | chr14 | 50719827 | 50719828 | rs12893979 | + | C | C/T | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.742216 |
L2HGDH | chr14 | 50720061 | 50720062 | rs7152434 | + | T | A/T | single | intron | 8 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,GMI,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.331044 |
L2HGDH | chr14 | 50720204 | 50720205 | rs7151353 | + | C | C/T | single | intron | 17 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.091158 |
L2HGDH | chr14 | 50720284 | 50720285 | rs7151371 | + | A | A/C | single | intron | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.050459 |
L2HGDH | chr14 | 50720294 | 50720295 | rs114504167 | + | C | A/C | single | intron | 5 | 1000GENOMES,BL,GMI,SSMP,TISHKOFF, | 2 | 0.263013 |
L2HGDH | chr14 | 50720911 | 50720912 | rs12890974 | + | T | C/T | single | intron | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.260385 |
L2HGDH | chr14 | 50721265 | 50721266 | rs56075103 | + | A | A/G | single | intron | 4 | 1000GENOMES,HGSV,ILLUMINA,SSMP, | 2 | 0.976066 |
L2HGDH | chr14 | 50721596 | 50721596 | rs201706273 | + | - | -/A | insertion | intron | 1 | 1000GENOMES, | 2 | 0.968320 |
L2HGDH | chr14 | 50721693 | 50721694 | rs76152450 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.034843 |
L2HGDH | chr14 | 50721946 | 50721947 | rs56357220 | + | A | A/G | single | intron | 3 | 1000GENOMES,HGSV,ILLUMINA-UK, | 2 | 0.988991 |
L2HGDH | chr14 | 50722009 | 50722010 | rs72683914 | + | C | C/T | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.874771 |
L2HGDH | chr14 | 50722150 | 50722151 | rs144943179 | + | G | A/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.014233 |
L2HGDH | chr14 | 50722358 | 50722359 | rs8004803 | + | A | A/C | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.447311 |
L2HGDH | chr14 | 50722663 | 50722664 | rs2013330 | + | T | C/T | single | intron | 6 | 1000GENOMES,GMI,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.299007 |
L2HGDH | chr14 | 50722691 | 50722692 | rs61553770 | + | G | C/G | single | intron | 3 | 1000GENOMES,HGSV,TISHKOFF, | 2 | 0.010560 |
L2HGDH | chr14 | 50722853 | 50722854 | rs79624057 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.988240 |
L2HGDH | chr14 | 50722937 | 50722938 | rs141938219 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.989899 |
L2HGDH | chr14 | 50723284 | 50723285 | rs910640 | + | T | A/T | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.870776 |
L2HGDH | chr14 | 50723285 | 50723285 | rs201497484 | + | - | -/A | insertion | intron | 1 | 1000GENOMES, | 2 | 0.328283 |
L2HGDH | chr14 | 50723630 | 50723631 | rs4901004 | + | T | C/T | single | intron | 8 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA,PERLEGEN,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.125000 |
L2HGDH | chr14 | 50723959 | 50723960 | rs910641 | + | T | C/T | single | intron | 23 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.862675 |
L2HGDH | chr14 | 50724337 | 50724338 | rs2007750 | + | G | C/G | single | intron | 19 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.910210 |
L2HGDH | chr14 | 50724572 | 50724573 | rs77076798 | + | A | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.974739 |
L2HGDH | chr14 | 50725085 | 50725086 | rs10151271 | + | A | A/T | single | intron | 11 | 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.666362 |
L2HGDH | chr14 | 50725772 | 50725773 | rs10151883 | + | A | A/G | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.121923 |
L2HGDH | chr14 | 50725979 | 50725980 | rs76712673 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.010453 |
L2HGDH | chr14 | 50726076 | 50726076 | rs201690350 | + | - | -/T | insertion | intron | 1 | 1000GENOMES, | 2 | 0.625803 |
L2HGDH | chr14 | 50726218 | 50726219 | rs112396161 | + | C | C/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.983028 |
L2HGDH | chr14 | 50726234 | 50726235 | rs28785597 | + | G | A/G | single | intron | 8 | 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,SSAHASNP,SSMP, | 2 | 0.329821 |
L2HGDH | chr14 | 50726278 | 50726279 | rs150919319 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.010560 |
L2HGDH | chr14 | 50726303 | 50726304 | rs11849315 | + | T | C/T | single | intron | 15 | 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.542218 |
L2HGDH | chr14 | 50726390 | 50726391 | rs112494721 | + | G | -/G | deletion | intron | 2 | 1000GENOMES,BUSHMAN, | 2 | 0.447248 |
L2HGDH | chr14 | 50726392 | 50726393 | rs10132003 | + | G | A/G | single | intron | 17 | 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.875856 |
L2HGDH | chr14 | 50726508 | 50726509 | rs145523936 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.011019 |
L2HGDH | chr14 | 50726547 | 50726548 | rs201522974 | + | A | -/A | deletion | intron | 1 | 1000GENOMES, | 2 | 0.028007 |
L2HGDH | chr14 | 50726727 | 50726731 | rs201533838 | + | AGAT | -/AGAT | deletion | intron | 1 | 1000GENOMES, | 2 | 0.028467 |
L2HGDH | chr14 | 50726971 | 50726972 | rs75481167 | + | C | C/T | single | intron | 7 | 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.778899 |
L2HGDH | chr14 | 50727009 | 50727010 | rs8013289 | + | G | C/G | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.595479 |
L2HGDH | chr14 | 50727108 | 50727109 | rs8013174 | + | C | C/G | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.419740 |
L2HGDH | chr14 | 50727193 | 50727194 | rs8013339 | + | C | A/C | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.721099 |
L2HGDH | chr14 | 50727218 | 50727219 | rs11157732 | + | A | A/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.461598 |
L2HGDH | chr14 | 50727227 | 50727228 | rs8013220 | + | A | A/G | single | intron | 3 | 1000GENOMES,TISHKOFF,WI_SSAHASNP, | 2 | 0.948606 |
L2HGDH | chr14 | 50727242 | 50727243 | rs115765480 | + | C | A/C | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.014373 |
L2HGDH | chr14 | 50727251 | 50727252 | rs8013641 | + | G | A/G | single | intron | 2 | 1000GENOMES,WI_SSAHASNP, | 2 | 0.010017 |
L2HGDH | chr14 | 50727348 | 50727349 | rs76507241 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.014808 |
L2HGDH | chr14 | 50727482 | 50727483 | rs10873033 | + | G | A/G | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.500455 |
L2HGDH | chr14 | 50727522 | 50727523 | rs11157733 | + | G | A/G | single | intron | 11 | 1000GENOMES,ABI,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.217749 |
L2HGDH | chr14 | 50728604 | 50728605 | rs76342915 | + | A | A/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.962544 |
L2HGDH | chr14 | 50728735 | 50728736 | rs4901005 | + | A | A/C | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.411070 |
L2HGDH | chr14 | 50729132 | 50729133 | rs4901006 | + | C | C/T | single | intron | 8 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,HGSV,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.783883 |
L2HGDH | chr14 | 50729249 | 50729250 | rs4901007 | + | A | A/G | single | intron | 19 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.522553 |
L2HGDH | chr14 | 50729397 | 50729398 | rs8004516 | + | A | A/G | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.277842 |
L2HGDH | chr14 | 50729424 | 50729425 | rs8004684 | + | C | C/T | single | intron | 5 | 1000GENOMES,ILLUMINA,KRIBB_YJKIM,TISHKOFF,WI_SSAHASNP, | 2 | 0.940113 |
L2HGDH | chr14 | 50730076 | 50730077 | rs10400736 | + | T | C/T | single | intron | 6 | 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA,SSMP, | 2 | 0.015373 |
L2HGDH | chr14 | 50730186 | 50730187 | rs75408779 | + | A | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.989547 |
L2HGDH | chr14 | 50730483 | 50730484 | rs116713532 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.010453 |
L2HGDH | chr14 | 50730514 | 50730515 | rs10400794 | + | C | C/T | single | intron | 2 | 1000GENOMES,BCM_SSAHASNP, | 2 | 0.986685 |
L2HGDH | chr14 | 50730660 | 50730661 | rs10400739 | + | T | C/T | single | intron | 7 | 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.017415 |
L2HGDH | chr14 | 50730817 | 50730818 | rs35364406 | + | C | C/T | single | intron | 6 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.982585 |
L2HGDH | chr14 | 50730838 | 50730839 | rs112131693 | + | T | A/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,SSMP, | 2 | 0.016514 |
L2HGDH | chr14 | 50731155 | 50731156 | rs115575336 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.010453 |
L2HGDH | chr14 | 50731358 | 50731359 | rs34327481 | + | A | A/G | single | intron | 7 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,SSMP,TISHKOFF, | 2 | 0.980347 |
L2HGDH | chr14 | 50731499 | 50731500 | rs112379465 | + | G | A/G | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.011468 |
L2HGDH | chr14 | 50731547 | 50731549 | rs147763738 | + | AT | -/AT | deletion | intron | 3 | 1000GENOMES,LUNTER,TISHKOFF, | 2 | 0.038108 |
L2HGDH | chr14 | 50731599 | 50731600 | rs8007752 | + | T | C/T | single | intron | 2 | 1000GENOMES,WI_SSAHASNP, | 2 | 0.010453 |
L2HGDH | chr14 | 50731625 | 50731627 | rs148824535 | + | AT | -/AT | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.034435 |
L2HGDH | chr14 | 50732041 | 50732042 | rs12432673 | + | G | A/G | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.411286 |
L2HGDH | chr14 | 50732623 | 50732624 | rs114475843 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.989547 |
L2HGDH | chr14 | 50732946 | 50732947 | rs2355885 | + | C | C/T | single | intron | 22 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.499305 |
L2HGDH | chr14 | 50733232 | 50733233 | rs61582827 | + | T | G/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,SSMP,TISHKOFF, | 2 | 0.012363 |
L2HGDH | chr14 | 50733824 | 50733825 | rs17715808 | + | A | A/C | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,PERLEGEN,SSMP, | 2 | 0.978898 |
L2HGDH | chr14 | 50733889 | 50733890 | rs143061401 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.020661 |
L2HGDH | chr14 | 50733893 | 50733894 | rs191191028 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.010101 |
L2HGDH | chr14 | 50733905 | 50733906 | rs181124381 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.073921 |
L2HGDH | chr14 | 50733962 | 50733963 | rs147064953 | + | C | C/T | single | intron | 3 | 1000GENOMES,SSMP,TISHKOFF, | 2 | 0.922406 |
L2HGDH | chr14 | 50734099 | 50734100 | rs12431485 | + | T | C/T | single | intron | 14 | 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.543300 |
L2HGDH | chr14 | 50734151 | 50734152 | rs141957010 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.046832 |
L2HGDH | chr14 | 50734188 | 50734189 | rs112214370 | + | T | C/T | single | intron | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.048055 |
L2HGDH | chr14 | 50734277 | 50734278 | rs12431539 | + | T | G/T | single | intron | 9 | 1000GENOMES,ABI,BGI,BL,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,SSAHASNP, | 2 | 0.408425 |
L2HGDH | chr14 | 50734281 | 50734282 | rs12431540 | + | T | G/T | single | intron | 14 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP, | 2 | 0.706606 |
L2HGDH | chr14 | 50734956 | 50734957 | rs148656301 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.965565 |
L2HGDH | chr14 | 50735327 | 50735328 | rs74655060 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.013066 |
L2HGDH | chr14 | 50735504 | 50735505 | rs1040689 | + | T | C/T | single | intron | 10 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,HGSV,ILLUMINA,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.047654 |
L2HGDH | chr14 | 50735601 | 50735602 | rs78813265 | + | C | C/G | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.988532 |
L2HGDH | chr14 | 50735610 | 50735611 | rs17122336 | + | G | A/G | single | intron | 5 | 1000GENOMES,HGSV,ILLUMINA,PERLEGEN,TISHKOFF, | 2 | 0.030635 |
L2HGDH | chr14 | 50735644 | 50735645 | rs60167764 | + | A | A/C | single | intron | 3 | 1000GENOMES,HGSV,TISHKOFF, | 2 | 0.962544 |
L2HGDH | chr14 | 50736286 | 50736287 | rs8015598 | + | T | C/T | single | intron | 3 | 1000GENOMES,TISHKOFF,WI_SSAHASNP, | 2 | 0.010778 |
L2HGDH | chr14 | 50736341 | 50736342 | rs8015621 | + | T | A/T | single | intron | 2 | 1000GENOMES,WI_SSAHASNP, | 2 | 0.010453 |
L2HGDH | chr14 | 50736724 | 50736725 | rs2153553 | + | C | C/T | single | intron | 20 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.523644 |
L2HGDH | chr14 | 50737318 | 50737319 | rs4129162 | + | G | A/G | single | intron | 7 | 1000GENOMES,ABI,COMPLETE_GENOMICS,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.061927 |
L2HGDH | chr14 | 50737668 | 50737669 | rs4901008 | + | A | A/G | single | intron | 19 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.590785 |
L2HGDH | chr14 | 50739141 | 50739142 | rs79971793 | + | C | C/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.988532 |
L2HGDH | chr14 | 50739484 | 50739485 | rs11157734 | + | A | A/C | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.420120 |
L2HGDH | chr14 | 50739945 | 50739946 | rs147975298 | + | A | -/A | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.011019 |
L2HGDH | chr14 | 50740046 | 50740047 | rs17406958 | + | C | C/T | single | intron | 8 | 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP, | 2 | 0.974159 |
L2HGDH | chr14 | 50740190 | 50740191 | rs2883802 | + | A | A/C | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.485858 |
L2HGDH | chr14 | 50740277 | 50740278 | rs114252236 | + | T | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.039634 |
L2HGDH | chr14 | 50740449 | 50740450 | rs115185093 | + | A | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.987805 |
L2HGDH | chr14 | 50740604 | 50740605 | rs11849020 | + | C | C/T | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.424146 |
L2HGDH | chr14 | 50740627 | 50740628 | rs138491608 | + | C | C/T | single | intron | 3 | 1000GENOMES,SSMP,TISHKOFF, | 2 | 0.929752 |
L2HGDH | chr14 | 50740699 | 50740700 | rs11849059 | + | C | A/C | single | intron | 14 | 1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.571885 |
L2HGDH | chr14 | 50741030 | 50741031 | rs35059048 | + | A | A/G | single | intron | 3 | 1000GENOMES,ABI,ENSEMBL, | 2 | 0.989918 |
L2HGDH | chr14 | 50741706 | 50741707 | rs116748760 | + | A | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.989111 |
L2HGDH | chr14 | 50741898 | 50741898 | rs142905920 | + | - | -/A | insertion | intron | 4 | 1000GENOMES,LUNTER,SSMP,TISHKOFF, | 2 | 0.929752 |
L2HGDH | chr14 | 50742248 | 50742249 | rs4901009 | + | T | C/T | single | intron | 23 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.738775 |
L2HGDH | chr14 | 50742340 | 50742341 | rs78262502 | + | A | A/C | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,TISHKOFF, | 2 | 0.962385 |
L2HGDH | chr14 | 50742391 | 50742392 | rs11851290 | + | C | C/T | single | intron | 5 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,ILLUMINA, | 2 | 0.989214 |
L2HGDH | chr14 | 50742546 | 50742547 | rs57843266 | + | T | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,SSMP,TISHKOFF, | 2 | 0.047183 |
L2HGDH | chr14 | 50743343 | 50743344 | rs73275194 | + | T | C/T | single | intron | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.012363 |
L2HGDH | chr14 | 50743731 | 50743732 | rs1465159 | + | T | C/T | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.571922 |
L2HGDH | chr14 | 50744461 | 50744462 | rs140651628 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.011478 |
L2HGDH | chr14 | 50744537 | 50744538 | rs138479821 | + | A | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.968320 |
L2HGDH | chr14 | 50744540 | 50744541 | rs141380237 | + | A | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.975666 |
L2HGDH | chr14 | 50744543 | 50744544 | rs75718994 | + | A | A/C | single | intron | 4 | 1000GENOMES,BUSHMAN,ILLUMINA,ILLUMINA-UK, | 2 | 0.863365 |
L2HGDH | chr14 | 50745222 | 50745223 | rs73275195 | + | C | C/T | single | intron | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,NHLBI-ESP, | 2 | 0.989459 |
L2HGDH | chr14 | 50745524 | 50745525 | rs116571258 | + | C | C/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.989111 |
L2HGDH | chr14 | 50745793 | 50745794 | rs114448496 | + | T | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.010453 |
L2HGDH | chr14 | 50746096 | 50746097 | rs11332302 | + | G | -/G | deletion | intron | 9 | 1000GENOMES,ABI,BILGI_BIOE,DEVINE_LAB,GMI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.512397 |
L2HGDH | chr14 | 50746173 | 50746174 | rs74703322 | + | A | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.964679 |
L2HGDH | chr14 | 50747111 | 50747112 | rs113479239 | + | G | C/G | single | intron | 4 | 1000GENOMES,BUSHMAN,SSMP,TISHKOFF, | 2 | 0.013303 |
L2HGDH | chr14 | 50747336 | 50747337 | rs12432105 | + | T | G/T | single | intron | 17 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.555677 |
L2HGDH | chr14 | 50747830 | 50747831 | rs9743539 | + | T | G/T | single | intron | 5 | 1000GENOMES,AFFY,BCM_SSAHASNP,ILLUMINA,KRIBB_YJKIM, | 2 | 0.011628 |
L2HGDH | chr14 | 50747849 | 50747850 | rs115253800 | + | G | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.010889 |
L2HGDH | chr14 | 50748125 | 50748126 | rs7149462 | + | C | A/C/G | single | intron | 3 | 1000GENOMES,BCM_SSAHASNP,TISHKOFF, | 2 | 0.965565 |
L2HGDH | chr14 | 50748422 | 50748423 | rs192703645 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.033517 |
L2HGDH | chr14 | 50748427 | 50748427 | rs200178997 | + | - | -/G | insertion | intron | 1 | 1000GENOMES, | 2 | 0.966024 |
L2HGDH | chr14 | 50748852 | 50748853 | rs12889265 | + | T | C/T | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.566485 |
L2HGDH | chr14 | 50749866 | 50749867 | rs151333705 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.989899 |
L2HGDH | chr14 | 50749920 | 50749921 | rs113149074 | + | G | -/G | deletion | intron | 3 | 1000GENOMES,BUSHMAN,LUNTER, | 2 | 0.357798 |
L2HGDH | chr14 | 50749923 | 50749924 | rs8019274 | + | G | A/G | single | intron | 12 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.439662 |
L2HGDH | chr14 | 50750315 | 50750316 | rs12432978 | + | C | C/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.440230 |
L2HGDH | chr14 | 50750576 | 50750577 | rs12433038 | + | A | A/G | single | intron | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.492315 |
L2HGDH | chr14 | 50750778 | 50750779 | rs10135842 | + | G | A/G | single | intron | 12 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.143935 |
L2HGDH | chr14 | 50751182 | 50751183 | rs10483597 | - | G | A/C | single | intron | 10 | 1000GENOMES,AFFY,BCMHGSC_JDW,ENSEMBL,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.038511 |
L2HGDH | chr14 | 50751199 | 50751199 | rs11460377 | + | - | -/T | insertion | intron | 10 | 1000GENOMES,ABI,BILGI_BIOE,DEVINE_LAB,GMI,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.494495 |
L2HGDH | chr14 | 50751564 | 50751565 | rs6572655 | + | G | G/T | single | intron | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.410453 |
L2HGDH | chr14 | 50751691 | 50751692 | rs142815942 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.018366 |
L2HGDH | chr14 | 50752219 | 50752220 | rs8004572 | + | C | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.078986 |
L2HGDH | chr14 | 50752583 | 50752584 | rs78761462 | + | T | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.040070 |
L2HGDH | chr14 | 50752757 | 50752758 | rs75473886 | + | T | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.010889 |
L2HGDH | chr14 | 50752875 | 50752876 | rs12882001 | + | T | C/T | single | intron | 10 | 1000GENOMES,ABI,AFFY,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP, | 2 | 0.036612 |
L2HGDH | chr14 | 50753073 | 50753073 | rs149572581 | + | - | -/A | insertion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.979798 |
L2HGDH | chr14 | 50753241 | 50753242 | rs11849603 | + | C | C/G | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.422561 |
L2HGDH | chr14 | 50753562 | 50753563 | rs17122352 | + | C | C/T | single | intron | 3 | 1000GENOMES,PERLEGEN,TISHKOFF, | 2 | 0.965693 |
L2HGDH | chr14 | 50753706 | 50753707 | rs116475753 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.010889 |
L2HGDH | chr14 | 50753817 | 50753818 | rs115313890 | + | C | A/C | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.020035 |
L2HGDH | chr14 | 50753826 | 50753827 | rs12886516 | + | G | G/T | single | intron | 11 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PERLEGEN,PJP,SSAHASNP,SSMP, | 3 | 0.821075 |
L2HGDH | chr14 | 50753991 | 50753992 | rs7154966 | + | T | C/T | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.583485 |
L2HGDH | chr14 | 50754249 | 50754250 | rs80027895 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.038328 |
L2HGDH | chr14 | 50754680 | 50754681 | rs12436483 | + | A | A/G | single | intron | 12 | 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.494521 |
L2HGDH | chr14 | 50754709 | 50754710 | rs12436501 | + | C | C/T | single | intron | 14 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.599087 |
L2HGDH | chr14 | 50754968 | 50754969 | rs17716174 | + | A | A/C | single | intron | 9 | 1000GENOMES,AFFY,BCMHGSC_JDW,ENSEMBL,ILLUMINA,ILLUMINA-UK,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.941567 |
L2HGDH | chr14 | 50755087 | 50755088 | rs78712705 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.986934 |
L2HGDH | chr14 | 50755361 | 50755362 | rs113177564 | + | C | C/T | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.867431 |
L2HGDH | chr14 | 50755373 | 50755374 | rs138038370 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.985308 |
L2HGDH | chr14 | 50755385 | 50755386 | rs74889514 | + | T | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.070642 |
L2HGDH | chr14 | 50755670 | 50755671 | rs8022617 | + | C | C/T | single | intron | 17 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.472668 |
L2HGDH | chr14 | 50755856 | 50755857 | rs111937527 | + | A | A/G | single | intron | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.988084 |
L2HGDH | chr14 | 50755990 | 50755991 | rs12881896 | + | C | C/T | single | intron | 15 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP, | 2 | 0.420985 |
L2HGDH | chr14 | 50756019 | 50756020 | rs74735522 | + | T | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.015679 |
L2HGDH | chr14 | 50756088 | 50756089 | rs12882050 | + | C | C/T | single | intron | 14 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP, | 2 | 0.431189 |
L2HGDH | chr14 | 50756384 | 50756385 | rs17122355 | + | T | C/T | single | intron | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,PERLEGEN,SSMP, | 2 | 0.012048 |
L2HGDH | chr14 | 50756395 | 50756396 | rs17778466 | + | A | A/T | single | intron | 5 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,PERLEGEN,SSMP, | 2 | 0.948251 |
L2HGDH | chr14 | 50756711 | 50756712 | rs139363658 | + | A | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.965565 |
L2HGDH | chr14 | 50756809 | 50756810 | rs181098653 | + | T | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.034435 |
L2HGDH | chr14 | 50756986 | 50756986 | rs199797742 | + | - | -/A | insertion | intron | 1 | 1000GENOMES, | 2 | 0.971074 |
L2HGDH | chr14 | 50757094 | 50757095 | rs9888568 | + | C | C/T | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.489091 |
L2HGDH | chr14 | 50757130 | 50757131 | rs9888567 | + | A | A/C | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.412644 |
L2HGDH | chr14 | 50757594 | 50757594 | rs199628176 | + | - | -/T | insertion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.988062 |
L2HGDH | chr14 | 50757847 | 50757848 | rs112703335 | + | G | A/G | single | intron | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.022904 |
L2HGDH | chr14 | 50758218 | 50758219 | rs116330607 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.989111 |
L2HGDH | chr14 | 50758252 | 50758253 | rs17122357 | + | G | A/G | single | intron | 6 | 1000GENOMES,AFFY,ILLUMINA,KRIBB_YJKIM,PERLEGEN,TISHKOFF, | 2 | 0.038080 |
L2HGDH | chr14 | 50758564 | 50758565 | rs7158883 | + | T | C/T | single | intron | 9 | 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SSMP,TISHKOFF, | 2 | 0.153706 |
L2HGDH | chr14 | 50758816 | 50758821 | rs149022072 | + | AATAT | -/AATAT | deletion | intron | 3 | 1000GENOMES,LUNTER,SSMP, | 2 | 0.070248 |
L2HGDH | chr14 | 50759202 | 50759203 | rs12586416 | + | T | C/T | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.410959 |
L2HGDH | chr14 | 50759260 | 50759261 | rs7141428 | + | C | C/T | single | intron | 3 | 1000GENOMES,BCM_SSAHASNP,TISHKOFF, | 2 | 0.989111 |
L2HGDH | chr14 | 50759352 | 50759353 | rs61242556 | + | G | A/G | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,SSMP,TISHKOFF, | 2 | 0.046309 |
L2HGDH | chr14 | 50759462 | 50759463 | rs60116101 | + | T | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,SSMP,TISHKOFF, | 2 | 0.045392 |
L2HGDH | chr14 | 50759677 | 50759678 | rs7142135 | + | A | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.423760 |
L2HGDH | chr14 | 50759866 | 50759867 | rs114515014 | + | T | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.041376 |
L2HGDH | chr14 | 50760028 | 50760029 | rs116103825 | + | C | A/C | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.010889 |
L2HGDH | chr14 | 50760029 | 50760030 | rs12894758 | + | C | C/T | single | intron | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.822979 |
L2HGDH | chr14 | 50760250 | 50760251 | rs11851584 | + | A | A/T | single | intron | 10 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,ILLUMINA-UK,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.863832 |
L2HGDH | chr14 | 50760381 | 50760382 | rs76346958 | + | C | A/C | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.037456 |
L2HGDH | chr14 | 50760383 | 50760384 | rs56747827 | + | G | A/G | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,SSMP,TISHKOFF, | 2 | 0.011905 |
L2HGDH | chr14 | 50760465 | 50760466 | rs56820086 | + | T | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,SSMP,TISHKOFF, | 2 | 0.011905 |
L2HGDH | chr14 | 50761846 | 50761847 | rs7144289 | + | G | C/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.541971 |
L2HGDH | chr14 | 50762270 | 50762271 | rs117382920 | + | T | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.017406 |
L2HGDH | chr14 | 50762700 | 50762701 | rs7151147 | + | T | C/T | single | intron | 9 | 1000GENOMES,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,SSMP, | 2 | 0.708467 |
L2HGDH | chr14 | 50764107 | 50764107 | rs148803952 | + | - | -/A | insertion | intron | 3 | 1000GENOMES,LUNTER,TISHKOFF, | 2 | 0.968779 |
L2HGDH | chr14 | 50765096 | 50765097 | rs190103238 | + | G | C/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.016529 |
L2HGDH | chr14 | 50765210 | 50765211 | rs113231941 | + | T | G/T | single | intron | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.047204 |
L2HGDH | chr14 | 50765757 | 50765758 | rs4901010 | + | G | A/G | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.506014 |
L2HGDH | chr14 | 50765923 | 50765924 | rs80190354 | + | A | A/G | single | intron | 4 | 1000GENOMES,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.927982 |
L2HGDH | chr14 | 50766028 | 50766029 | rs2153554 | + | A | A/G | single | intron | 10 | 1000GENOMES,ABI,BUSHMAN,ILLUMINA-UK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.864265 |
L2HGDH | chr14 | 50767504 | 50767505 | rs113989112 | + | C | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.988084 |
L2HGDH | chr14 | 50767548 | 50767549 | rs116110419 | + | T | C/T | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.011760 |
L2HGDH | chr14 | 50767751 | 50767752 | rs111526615 | + | C | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.987637 |
L2HGDH | chr14 | 50767813 | 50767814 | rs73277317 | + | C | C/G | single | intron,near-gene-5 | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.987637 |
L2HGDH | chr14 | 50767873 | 50767874 | rs112771654 | + | G | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.012374 |
L2HGDH | chr14 | 50768389 | 50768390 | rs61584633 | + | A | A/G | single | intron,near-gene-5 | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,SSMP,TISHKOFF, | 2 | 0.980311 |
L2HGDH | chr14 | 50768482 | 50768483 | rs4901011 | + | A | A/G | single | intron,near-gene-5 | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.423304 |
L2HGDH | chr14 | 50768587 | 50768588 | rs73277322 | + | C | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS, | 2 | 0.989464 |
L2HGDH | chr14 | 50768698 | 50768699 | rs41299197 | + | T | C/T | single | intron | 6 | 1000GENOMES,CLINSEQ_SNP,HGSV,ILLUMINA,NHLBI-ESP,SI_EXO, | 2 | 0.043349 |
L2HGDH | chr14 | 50769326 | 50769327 | rs2297993 | + | A | A/G | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.415183 |
L2HGDH | chr14 | 50769355 | 50769356 | rs115316721 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.989111 |
L2HGDH | chr14 | 50769384 | 50769385 | rs55851766 | + | C | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,HGSV,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.924840 |
L2HGDH | chr14 | 50769454 | 50769455 | rs2297994 | + | G | G/T | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.428298 |
L2HGDH | chr14 | 50769858 | 50769859 | rs17122363 | + | C | C/T | single | intron | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,PERLEGEN,SSMP, | 2 | 0.987511 |
L2HGDH | chr14 | 50769867 | 50769868 | rs1962578 | + | G | A/G | single | intron | 14 | 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.415525 |
L2HGDH | chr14 | 50769900 | 50769901 | rs1974327 | + | A | A/G | single | intron | 16 | 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.428377 |
L2HGDH | chr14 | 50770014 | 50770015 | rs1962579 | + | C | A/C/G/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.479252 |
L2HGDH | chr14 | 50770042 | 50770043 | rs112503230 | + | G | A/G | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.021101 |
L2HGDH | chr14 | 50770520 | 50770521 | rs1557010 | + | G | G/T | single | intron | 13 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,SC_JCM,SSAHASNP,SSMP,TSC-CSHL, | 2 | 0.100000 |
L2HGDH | chr14 | 50770984 | 50770985 | rs79207710 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.039634 |
L2HGDH | chr14 | 50772402 | 50772403 | rs8018446 | + | C | C/T | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.427335 |
L2HGDH | chr14 | 50772733 | 50772734 | rs11851370 | + | C | C/T | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.464286 |
L2HGDH | chr14 | 50772799 | 50772800 | rs192789987 | + | G | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.969697 |
L2HGDH | chr14 | 50773074 | 50773075 | rs73277332 | + | T | G/T | single | intron | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.011916 |
L2HGDH | chr14 | 50773288 | 50773289 | rs113886089 | + | T | -/T | deletion | intron | 2 | 1000GENOMES,BUSHMAN, | 2 | 0.118349 |
L2HGDH | chr14 | 50773295 | 50773296 | rs946993 | + | T | G/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.494632 |
L2HGDH | chr14 | 50773309 | 50773310 | rs200320716 | + | G | -/G | deletion | intron | 1 | 1000GENOMES, | 2 | 0.069789 |
L2HGDH | chr14 | 50773426 | 50773427 | rs17122365 | + | T | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA,ILLUMINA-UK,PERLEGEN, | 2 | 0.011628 |
L2HGDH | chr14 | 50773538 | 50773539 | rs78230395 | + | T | A/T | single | intron | 3 | 1000GENOMES,BL,GMI, | 2 | 0.209385 |
L2HGDH | chr14 | 50773539 | 50773540 | rs12880166 | + | T | A/T | single | intron | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP, | 2 | 0.553522 |
L2HGDH | chr14 | 50773575 | 50773576 | rs12880323 | + | T | C/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.572599 |
L2HGDH | chr14 | 50773869 | 50773870 | rs7143204 | + | T | G/T | single | intron | 9 | 1000GENOMES,BCM_SSAHASNP,BGI,BL,GMI,ILLUMINA,PJP,SSMP,WI_SSAHASNP, | 2 | 0.197075 |
L2HGDH | chr14 | 50774503 | 50774504 | rs73277336 | + | G | C/G | single | intron | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.012363 |
L2HGDH | chr14 | 50774830 | 50774831 | rs73277339 | + | G | A/G | single | intron | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA,TISHKOFF, | 2 | 0.012363 |
L2HGDH | chr14 | 50775053 | 50775054 | rs8015010 | + | G | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,WI_SSAHASNP, | 2 | 0.021540 |
L2HGDH | chr14 | 50775318 | 50775319 | rs6572656 | + | C | A/C | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.579732 |
L2HGDH | chr14 | 50775475 | 50775476 | rs12433317 | + | G | A/G | single | intron | 13 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.428245 |
L2HGDH | chr14 | 50775740 | 50775750 | rs144747446 | + | TTTTGAGAGT | -/TTTTGAGAGT | deletion | intron | 4 | 1000GENOMES,BILGI_BIOE,GMI,LUNTER, | 2 | 0.521579 |
L2HGDH | chr14 | 50776005 | 50776006 | rs112733256 | + | T | G/T | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.038073 |
L2HGDH | chr14 | 50776240 | 50776241 | rs7158964 | + | C | C/T | single | intron | 12 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.409859 |
L2HGDH | chr14 | 50776297 | 50776298 | rs114696998 | + | A | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.986934 |
L2HGDH | chr14 | 50776532 | 50776533 | rs112083596 | + | T | A/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.011009 |
L2HGDH | chr14 | 50776544 | 50776545 | rs8021001 | + | A | A/G | single | intron | 16 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.423883 |
L2HGDH | chr14 | 50776586 | 50776587 | rs116023915 | + | T | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.011760 |
L2HGDH | chr14 | 50776863 | 50776864 | rs77039032 | + | T | A/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.021777 |
L2HGDH | chr14 | 50776896 | 50776897 | rs79988677 | + | T | G/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.022213 |
L2HGDH | chr14 | 50777429 | 50777430 | rs8007800 | + | T | C/T | single | intron,near-gene-5 | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSMP,WI_SSAHASNP, | 2 | 0.545247 |
L2HGDH | chr14 | 50777658 | 50777659 | rs188617542 | + | T | C/T | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.100092 |
L2HGDH | chr14 | 50777658 | 50777658 | rs200515426 | + | - | -/C | insertion | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.899449 |
L2HGDH | chr14 | 50778268 | 50778268 | rs72473098 | + | - | -/T | insertion | intron,near-gene-5 | 5 | 1000GENOMES,DEVINE_LAB,LUNTER,SSMP,TISHKOFF, | 2 | 0.872819 |
DUOX2 | chr15 | 45386655 | 45386656 | rs7171366 | + | T | G/T | single | intron | 14 | 1000GENOMES,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF, | 2 | 0.231763 |
DUOX2 | chr15 | 45387388 | 45387389 | rs111280439 | + | A | A/C | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.984418 |
DUOX2 | chr15 | 45387549 | 45387550 | rs199138 | - | A | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.703597 |
DUOX2 | chr15 | 45387898 | 45387899 | rs16977579 | + | T | C/T | single | intron | 9 | 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,HGSV,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,TISHKOFF, | 2 | 0.116008 |
DUOX2 | chr15 | 45388381 | 45388382 | rs2554451 | - | C | A/G | single | intron | 17 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.738897 |
DUOX2 | chr15 | 45388394 | 45388395 | rs73406323 | + | G | A/G | single | intron | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA-UK,TISHKOFF, | 2 | 0.076853 |
DUOX2 | chr15 | 45388726 | 45388727 | rs73406325 | + | A | A/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.884369 |
DUOX2 | chr15 | 45390945 | 45390946 | rs111702374 | + | G | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.015582 |
DUOX2 | chr15 | 45391210 | 45391211 | rs146865634 | + | C | -/C | deletion | intron | 1 | 1000GENOMES, | 2 | 0.039027 |
DUOX2 | chr15 | 45391293 | 45391294 | rs4774515 | + | C | C/T | single | intron | 4 | 1000GENOMES,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.960587 |
DUOX2 | chr15 | 45391454 | 45391455 | rs56833067 | + | A | A/G | single | intron | 7 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.800824 |
DUOX2 | chr15 | 45391498 | 45391499 | rs113618416 | + | C | C/T | single | intron | 4 | 1000GENOMES,BUSHMAN,SSMP,TISHKOFF, | 2 | 0.961962 |
DUOX2 | chr15 | 45391524 | 45391525 | rs111613241 | + | A | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.984418 |
DUOX2 | chr15 | 45392154 | 45392155 | rs143612396 | + | C | C/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.987603 |
DUOX2 | chr15 | 45392516 | 45392517 | rs77512689 | + | C | A/C | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.031794 |
DUOX2 | chr15 | 45392777 | 45392778 | rs79374174 | + | G | C/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.014679 |
DUOX2 | chr15 | 45392811 | 45392812 | rs76356689 | + | G | A/G | single | intron | 4 | 1000GENOMES,BUSHMAN,SSMP,TISHKOFF, | 2 | 0.037580 |
DUOX2 | chr15 | 45392900 | 45392901 | rs75048501 | + | C | C/T | single | intron | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.984876 |
DUOX2 | chr15 | 45393360 | 45393361 | rs111706445 | + | G | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,NHLBI-ESP, | 2 | 0.010092 |
DUOX2 | chr15 | 45393666 | 45393667 | rs953733 | + | A | A/G | single | intron | 11 | 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.848717 |
DUOX2 | chr15 | 45393929 | 45393930 | rs78256554 | + | G | A/G | single | intron | 4 | 1000GENOMES,BUSHMAN,SSMP,TISHKOFF, | 2 | 0.037580 |
DUOX2 | chr15 | 45394405 | 45394406 | rs269866 | - | G | C/T | single | intron | 22 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.466145 |
DUOX2 | chr15 | 45394518 | 45394519 | rs116562151 | + | C | A/C | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.016551 |
DUOX2 | chr15 | 45394582 | 45394583 | rs111477569 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.031193 |
DUOX2 | chr15 | 45394811 | 45394812 | rs112473943 | + | G | A/G | single | intron | 4 | 1000GENOMES,BUSHMAN,ILLUMINA,TISHKOFF, | 2 | 0.015124 |
DUOX2 | chr15 | 45394920 | 45394921 | rs56838826 | + | T | C/T | single | intron | 9 | 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.091491 |
DUOX2 | chr15 | 45395583 | 45395584 | rs61626661 | + | A | A/G | single | intron | 9 | 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.924943 |
DUOX2 | chr15 | 45395644 | 45395644 | rs143847058 | + | - | -/T | insertion | intron | 2 | 1000GENOMES,BL, | 2 | 0.980257 |
DUOX2 | chr15 | 45395795 | 45395796 | rs112432895 | + | A | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.984418 |
DUOX2 | chr15 | 45396288 | 45396289 | rs113684942 | + | T | C/T | single | intron | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.016972 |
DUOX2 | chr15 | 45396611 | 45396612 | rs80095330 | + | T | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.030488 |
DUOX2 | chr15 | 45396749 | 45396750 | rs113078084 | + | A | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.984418 |
DUOX2 | chr15 | 45397202 | 45397203 | rs141433708 | + | G | A/G/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.028007 |
DUOX2 | chr15 | 45397565 | 45397566 | rs269863 | - | G | C/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.265925 |
DUOX2 | chr15 | 45397830 | 45397831 | rs73406330 | + | G | A/G | single | intron | 11 | 1000GENOMES,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SSMP,TISHKOFF, | 2 | 0.120867 |
DUOX2 | chr15 | 45398088 | 45398089 | rs79849154 | + | C | C/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.982143 |
DUOX2 | chr15 | 45398126 | 45398127 | rs115012702 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.988676 |
DUOX2 | chr15 | 45398230 | 45398231 | rs73406335 | + | T | G/T | single | intron | 8 | 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.123400 |
DUOX2 | chr15 | 45398313 | 45398314 | rs73406337 | + | G | A/G | single | intron | 11 | 1000GENOMES,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SSMP,TISHKOFF, | 2 | 0.071040 |
DUOX2 | chr15 | 45398628 | 45398629 | rs79757509 | + | T | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.024390 |
DUOX2 | chr15 | 45398964 | 45398965 | rs269862 | - | G | A/C | single | intron | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.825515 |
DUOX2 | chr15 | 45399310 | 45399311 | rs78922026 | + | C | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.975610 |
DUOX2 | chr15 | 45399466 | 45399467 | rs190599 | - | A | C/T | single | intron | 21 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.865771 |
DUOX2 | chr15 | 45399532 | 45399533 | rs76411432 | + | C | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA,NHLBI-ESP,SSMP, | 2 | 0.975610 |
DUOX2 | chr15 | 45399991 | 45399992 | rs166574 | - | T | A/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.252737 |
DUOX2 | chr15 | 45400013 | 45400014 | rs142530819 | + | A | A/C | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.986226 |
DUOX2 | chr15 | 45400121 | 45400122 | rs116831463 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.023955 |
DUOX2 | chr15 | 45400163 | 45400164 | rs269861 | - | T | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.164695 |
DUOX2 | chr15 | 45400448 | 45400449 | rs117599686 | + | G | A/G | single | intron | 5 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP,SSMP, | 2 | 0.011127 |
DUOX2 | chr15 | 45400449 | 45400450 | rs79570265 | + | C | C/T | single | intron | 3 | 1000GENOMES,NHLBI-ESP,SSMP, | 2 | 0.975610 |
DUOX2 | chr15 | 45400611 | 45400611 | rs200873281 | + | - | -/G | insertion | intron | 1 | 1000GENOMES, | 2 | 0.910468 |
DUOX2 | chr15 | 45400613 | 45400613 | rs144393243 | + | - | -/C | insertion | intron | 4 | 1000GENOMES,GMI,LUNTER,SSMP, | 2 | 0.921947 |
DUOX2 | chr15 | 45401635 | 45401636 | rs1961660 | + | C | C/T | single | intron | 14 | 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.808531 |
DUOX2 | chr15 | 45402318 | 45402319 | rs111737855 | + | T | C/T | single | intron | 7 | 1000GENOMES,BL,BUSHMAN,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.072377 |
DUOX2 | chr15 | 45402428 | 45402429 | rs72724247 | + | T | G/T | single | intron | 3 | 1000GENOMES,GMI,ILLUMINA, | 2 | 0.011019 |
DUOX2 | chr15 | 45402478 | 45402479 | rs113324656 | + | A | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.985321 |
DUOX2 | chr15 | 45402939 | 45402940 | rs269859 | - | A | C/T | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KWOK,NHLBI-ESP,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.814868 |
DUOX2 | chr15 | 45402964 | 45402965 | rs114240217 | + | G | G/T | single | intron | 3 | 1000GENOMES,NHLBI-ESP,TISHKOFF, | 2 | 0.969948 |
DUOX2 | chr15 | 45402989 | 45402990 | rs80231352 | + | G | C/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.012620 |
DUOX2 | chr15 | 45403016 | 45403017 | rs74011359 | + | A | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA-UK,SSMP, | 2 | 0.985780 |
DUOX2 | chr15 | 45403036 | 45403037 | rs113800136 | + | G | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.011468 |
DUOX2 | chr15 | 45403095 | 45403096 | rs2412956 | + | T | G/T | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.983516 |
DUOX2 | chr15 | 45403511 | 45403512 | rs200998617 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.045454 |
DUOX2 | chr15 | 45403916 | 45403917 | rs181503132 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.984848 |
DUOX2 | chr15 | 45404692 | 45404693 | rs751151 | - | C | A/G | single | intron,near-gene-5 | 8 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ILLUMINA,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.051817 |
DUOX2 | chr15 | 45404698 | 45404699 | rs76180151 | + | C | C/T | single | intron,near-gene-5 | 7 | 1000GENOMES,BL,CLINSEQ_SNP,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.968483 |
DUOX2 | chr15 | 45404996 | 45404997 | rs113700172 | + | C | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.985321 |
DUOX2 | chr15 | 45405145 | 45405146 | rs74367551 | + | G | G/T | single | intron,near-gene-5 | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.971127 |
DUOX2 | chr15 | 45405322 | 45405323 | rs77078382 | + | C | A/C | single | intron,near-gene-5 | 3 | 1000GENOMES,NHLBI-ESP,TISHKOFF, | 2 | 0.029617 |
DUOX2 | chr15 | 45405413 | 45405414 | rs75354193 | + | C | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.969948 |
DUOX2 | chr15 | 45405462 | 45405463 | rs269856 | + | G | G/T | single | intron,near-gene-5 | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.141864 |
DUOX2 | chr15 | 45405986 | 45405987 | rs269855 | - | G | C/T | single | intron,near-gene-5 | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.038063 |
ETFA | chr15 | 76510035 | 76510036 | rs116724809 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.012631 |
ETFA | chr15 | 76510072 | 76510073 | rs1533600 | - | G | C/T | single | intron | 23 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.029300 |
ETFA | chr15 | 76510240 | 76510241 | rs79195417 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.012631 |
ETFA | chr15 | 76510303 | 76510304 | rs12916022 | + | G | A/G | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.391781 |
ETFA | chr15 | 76510524 | 76510525 | rs114145226 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.026568 |
ETFA | chr15 | 76510581 | 76510582 | rs2245180 | - | G | C/T | single | intron | 24 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.027350 |
ETFA | chr15 | 76510695 | 76510696 | rs2469570 | + | T | C/T | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.964025 |
ETFA | chr15 | 76510699 | 76510700 | rs62030229 | + | C | C/T | single | intron | 6 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.748168 |
ETFA | chr15 | 76511404 | 76511405 | rs80154152 | + | A | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.972561 |
ETFA | chr15 | 76511980 | 76511981 | rs79641522 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.027439 |
ETFA | chr15 | 76512026 | 76512027 | rs2456039 | - | A | C/T | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.978578 |
ETFA | chr15 | 76512356 | 76512357 | rs72736862 | + | A | A/G | single | intron | 3 | 1000GENOMES,SSMP,TISHKOFF, | 2 | 0.942467 |
ETFA | chr15 | 76512406 | 76512407 | rs11853864 | + | C | C/T | single | intron | 4 | 1000GENOMES,BUSHMAN,CSHL-HAPMAP,ENSEMBL, | 2 | 0.983516 |
ETFA | chr15 | 76512975 | 76512976 | rs117827176 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.986510 |
ETFA | chr15 | 76512999 | 76513000 | rs117973661 | + | T | G/T | single | intron | 4 | 1000GENOMES,GMI,ILLUMINA,SSMP, | 2 | 0.023499 |
ETFA | chr15 | 76513239 | 76513240 | rs34213321 | + | A | A/G | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.591241 |
ETFA | chr15 | 76513552 | 76513553 | rs2469571 | + | G | A/G | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.924125 |
ETFA | chr15 | 76513626 | 76513627 | rs62030230 | + | A | A/C | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,BL,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.936239 |
ETFA | chr15 | 76513965 | 76513966 | rs76634793 | + | A | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.973868 |
ETFA | chr15 | 76514360 | 76514361 | rs11072578 | + | A | A/G | single | intron | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA-UK,PERLEGEN,PJP,SSMP, | 2 | 0.670815 |
ETFA | chr15 | 76514589 | 76514591 | rs199626564 | + | AA | -/AA | deletion | intron | 1 | 1000GENOMES, | 2 | 0.016070 |
ETFA | chr15 | 76514667 | 76514668 | rs11475733 | + | T | -/T | deletion | intron | 7 | 1000GENOMES,BILGI_BIOE,DEVINE_LAB,GMI,LUNTER,PJP,SSMP, | 2 | 0.350781 |
ETFA | chr15 | 76514895 | 76514896 | rs77815174 | + | T | C/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.051282 |
ETFA | chr15 | 76514944 | 76514945 | rs55772702 | + | C | C/T | single | intron | 6 | 1000GENOMES,BL,BUSHMAN,HGSV,ILLUMINA,SSMP, | 2 | 0.926147 |
ETFA | chr15 | 76515031 | 76515031 | rs147485608 | + | - | -/A | insertion | intron | 3 | 1000GENOMES,LUNTER,TISHKOFF, | 2 | 0.973829 |
ETFA | chr15 | 76515119 | 76515120 | rs883993 | + | G | C/G | single | intron | 10 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,GMI,ILLUMINA-UK,KRIBB_YJKIM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.353994 |
ETFA | chr15 | 76515280 | 76515281 | rs1810347 | - | A | G/T | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.943431 |
ETFA | chr15 | 76515703 | 76515704 | rs7175022 | + | A | A/G | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,ENSEMBL,SSMP,TISHKOFF, | 2 | 0.941797 |
ETFA | chr15 | 76517047 | 76517048 | rs3784449 | + | G | A/G | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.354613 |
ETFA | chr15 | 76517166 | 76517167 | rs2456038 | - | A | C/T | single | intron | 20 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.946574 |
ETFA | chr15 | 76517876 | 76517877 | rs56233972 | + | G | A/G/T | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,BL,ENSEMBL,HGSV,SSMP,TISHKOFF, | 2 | 0.060092 |
ETFA | chr15 | 76517893 | 76517894 | rs145400891 | + | T | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.051423 |
ETFA | chr15 | 76518345 | 76518345 | rs200152795 | + | - | -/C | insertion | intron | 1 | 1000GENOMES, | 2 | 0.049587 |
ETFA | chr15 | 76518639 | 76518640 | rs62030232 | + | T | G/T | single | intron | 9 | 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA-UK,SSMP, | 2 | 0.351487 |
ETFA | chr15 | 76518940 | 76518941 | rs148568611 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.984389 |
ETFA | chr15 | 76518948 | 76518949 | rs141994554 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.010101 |
ETFA | chr15 | 76519075 | 76519076 | rs150704896 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.987603 |
ETFA | chr15 | 76519133 | 76519134 | rs11631764 | + | G | A/G | single | intron | 9 | 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,SSAHASNP,SSMP, | 2 | 0.320642 |
ETFA | chr15 | 76519135 | 76519136 | rs11631690 | + | C | C/T | single | intron | 9 | 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,SSAHASNP,SSMP, | 2 | 0.684404 |
ETFA | chr15 | 76519205 | 76519206 | rs2957036 | + | T | C/T | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP, | 2 | 0.962997 |
ETFA | chr15 | 76519480 | 76519481 | rs75375526 | + | A | A/G | single | intron | 3 | 1000GENOMES,BCM-HGSC-SUB,GMI, | 2 | 0.984769 |
ETFA | chr15 | 76519559 | 76519560 | rs144051186 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.014692 |
ETFA | chr15 | 76520363 | 76520364 | rs78057253 | + | T | G/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.039199 |
ETFA | chr15 | 76520675 | 76520676 | rs1518964 | - | C | A/G | single | intron | 5 | 1000GENOMES,ABI,BUSHMAN,TISHKOFF,TSC-CSHL, | 2 | 0.015396 |
ETFA | chr15 | 76520841 | 76520842 | rs74762436 | + | A | A/C | single | intron | 2 | 1000GENOMES,BUSHMAN, | 2 | 0.984404 |
ETFA | chr15 | 76521769 | 76521770 | rs3898352 | - | G | C/T | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.663866 |
ETFA | chr15 | 76521797 | 76521798 | rs959991 | + | C | C/T | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.638609 |
ETFA | chr15 | 76522039 | 76522040 | rs1047357 | - | G | C/T | single | intron | 4 | 1000GENOMES,AFFY,LEE,TISHKOFF, | 2 | 0.967432 |