Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Class | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
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KDM1A | chr1 | 23386319 | 23386320 | rs12081529 | + | T | C/T | single | intron,near-gene-5 | 5 | 1000GENOMES,AFFY,KRIBB_YJKIM,SC_SNP,TISHKOFF, | 2 | 0.050923 |
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 | 11866182 | 11866183 | rs13306560 | - | C | A/G | single | near-gene-5,ncRNA,untranslated-5 | 7 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,IMCJ-GDT,KRIBB_YJKIM,PHARMGKB_PPII,SSMP, | 2 | 0.019176 |
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 | 161147770 | 161147771 | rs17392570 | + | A | A/G | single | near-gene-5 | 9 | 1000GENOMES,BL,BUSHMAN,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SI_EXO,SSMP, | 2 | 0.929800 |
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 |
ACP2 | chr11 | 47270254 | 47270255 | rs2167079 | - | C | A/G | single | near-gene-5,missense,untranslated-5 | 27 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KYUGEN,NHLBI-ESP,PJP,SC_SNP,SEATTLESEQ,SSMP,TISHKOFF,TSC-CSHL,WIAF-CSNP, | 2 | 0.440645 |
FOXRED1 | chr11 | 126139099 | 126139100 | rs1786702 | + | T | C/T | single | near-gene-5,ncRNA,untranslated-5 | 24 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.733031 |
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 |
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 |
NDUFV1 | chr11 | 67379932 | 67379933 | rs3183626 | + | A | A/C | single | near-gene-5,untranslated-3 | 1 | LEE, | 2 | 0.990000 |
NDUFV1 | chr11 | 67380007 | 67380008 | rs76839099 | + | C | C/T | single | near-gene-5,untranslated-3 | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.985640 |
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 | 74416697 | 74416698 | rs11848954 | + | C | C/G | single | near-gene-5,missense,untranslated-5 | 12 | 1000GENOMES,ABI,APPLERA_GI,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.979246 |
COQ6 | chr14 | 74416781 | 74416782 | rs190881382 | + | T | G/T | single | near-gene-5,missense,untranslated-5 | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.023875 |
COQ6 | chr14 | 74416831 | 74416832 | rs111833521 | + | G | G/T | single | near-gene-5,missense | 4 | 1000GENOMES,BUSHMAN,ILLUMINA,TISHKOFF, | 2 | 0.984432 |
COQ6 | chr14 | 74416835 | 74416836 | rs17094161 | + | G | A/G | single | near-gene-5,nonsense,missense | 6 | 1000GENOMES,AFFY,ILLUMINA,KRIBB_YJKIM,PERLEGEN,TISHKOFF, | 2 | 0.020356 |
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 | 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 |
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 | 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 |
L2HGDH | chr14 | 50778769 | 50778770 | rs35710558 | - | C | G/T | single | near-gene-5,missense | 7 | 1000GENOMES,APPLERA_GI,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,TISHKOFF, | 2 | 0.988918 |
L2HGDH | chr14 | 50778815 | 50778816 | rs2275591 | + | A | A/C | single | near-gene-5,missense | 23 | 1000GENOMES,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.429577 |
L2HGDH | chr14 | 50779228 | 50779229 | rs12892575 | + | C | C/T | single | near-gene-5,ncRNA,untranslated-5 | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSAHASNP,SSMP, | 2 | 0.433269 |
L2HGDH | chr14 | 50779263 | 50779264 | rs117249640 | + | A | A/C | single | near-gene-5,ncRNA,untranslated-5 | 1 | 1000GENOMES, | 2 | 0.986510 |
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 | 45404773 | 45404774 | rs117041393 | + | G | G/T | single | coding-synon,near-gene-5 | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.988251 |
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 |
DUOX2 | chr15 | 45406197 | 45406198 | rs112353868 | + | G | C/G | single | near-gene-5,untranslated-5 | 4 | 1000GENOMES,BUSHMAN,ILLUMINA,TISHKOFF, | 2 | 0.028440 |
DUOX2 | chr15 | 45406389 | 45406390 | rs113699001 | + | T | C/T | single | near-gene-5 | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.015589 |
DUOX2 | chr15 | 45406426 | 45406427 | rs2576089 | + | C | C/T | single | near-gene-5 | 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,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.036247 |
ETFA | chr15 | 76553332 | 76553333 | rs62030244 | + | C | C/T | single | intron,near-gene-5 | 7 | 1000GENOMES,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,ENSEMBL,SSMP,TISHKOFF, | 2 | 0.873052 |
ETFA | chr15 | 76553498 | 76553499 | rs62030245 | + | C | C/G | single | intron,near-gene-5 | 9 | 1000GENOMES,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.682234 |
ETFA | chr15 | 76553587 | 76553588 | rs62030246 | + | G | A/G | single | intron,near-gene-5 | 8 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,ENSEMBL,GMI,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.306141 |
ETFA | chr15 | 76553789 | 76553790 | rs35831705 | + | C | C/T | single | intron,near-gene-5 | 10 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,ENSEMBL,GMI,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.690018 |
ETFA | chr15 | 76553889 | 76553890 | rs62027004 | + | C | C/T | single | intron,near-gene-5 | 6 | 1000GENOMES,BCMHGSC_JDW,BL,ENSEMBL,SSMP,TISHKOFF, | 2 | 0.954587 |
DHODH | chr16 | 72042634 | 72042635 | rs34270657 | + | A | A/G | single | near-gene-5 | 9 | 1000GENOMES,ABI,BCM-HGSC-SUB,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,PJP,SSMP, | 2 | 0.953755 |
ACADVL | chr17 | 7121104 | 7121105 | rs72839706 | + | C | A/C | single | coding-synon,intron,near-gene-5 | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.020017 |