Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Class | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
---|
ETFDH | chr4 | 159594749 | 159594750 | rs114653187 | + | G | G/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.980401 |
ETFDH | chr4 | 159594816 | 159594817 | rs75829254 | + | T | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.017857 |
ETFDH | chr4 | 159594890 | 159594891 | rs116032941 | + | G | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.010009 |
ETFDH | chr4 | 159595060 | 159595061 | rs78051411 | + | T | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.017857 |
ETFDH | chr4 | 159595091 | 159595092 | rs191392725 | + | C | A/C | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.015611 |
ETFDH | chr4 | 159595092 | 159595093 | rs182838657 | + | A | A/G | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.984389 |
ETFDH | chr4 | 159595116 | 159595117 | rs78439212 | + | G | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.017422 |
ETFDH | chr4 | 159595228 | 159595229 | rs76433339 | + | G | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.018293 |
MTRR | chr5 | 7851922 | 7851923 | rs7714950 | + | C | C/T | single | near-gene-5 | 12 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.670475 |
MTRR | chr5 | 7852166 | 7852167 | rs162023 | + | A | A/G | single | near-gene-5 | 22 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.512069 |
MTRR | chr5 | 7852281 | 7852282 | rs326205 | + | G | A/G | single | near-gene-5 | 23 | 1000GENOMES,ABI,AFFY,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,WI_SSAHASNP, | 2 | 0.563031 |
MTRR | chr5 | 7852406 | 7852407 | rs79931532 | + | G | G/T | single | near-gene-5 | 5 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,ILLUMINA,SSMP, | 2 | 0.975688 |
MTRR | chr5 | 7852529 | 7852530 | rs79562536 | + | T | G/T | single | near-gene-5 | 1 | 1000GENOMES, | 2 | 0.010453 |
MTRR | chr5 | 7852811 | 7852812 | rs75874701 | + | T | A/T | single | near-gene-5 | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.033085 |
MTRR | chr5 | 7852977 | 7852978 | rs12653983 | + | C | A/C | single | near-gene-5 | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.305403 |
MTRR | chr5 | 7853041 | 7853042 | rs74647306 | + | G | A/G | single | near-gene-5 | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.032672 |
MTRR | chr5 | 7853181 | 7853182 | rs112112268 | + | C | C/G | single | near-gene-5 | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.981193 |
MTRR | chr5 | 7853295 | 7853296 | rs75171450 | + | C | C/T | single | near-gene-5 | 1 | 1000GENOMES, | 2 | 0.977807 |
MTRR | chr5 | 7853303 | 7853304 | rs326206 | + | C | A/C | single | near-gene-5 | 11 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.082493 |
MTRR | chr5 | 7868029 | 7868030 | rs2966952 | + | T | C/T | single | intron,near-gene-5,missense | 27 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.834742 |
MTRR | chr5 | 7868268 | 7868269 | rs3733781 | - | A | C/T | single | intron,near-gene-5,untranslated-5 | 8 | 1000GENOMES,BUSHMAN,GMI,ILLUMINA,ILLUMINA-UK,SSMP,TISHKOFF,YUSUKE, | 2 | 0.123683 |
MTRR | chr5 | 7868542 | 7868543 | rs326118 | + | T | G/T | single | intron,near-gene-5 | 18 | 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KWOK,PHARMGKB_PPII,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.232664 |
MTRR | chr5 | 7868865 | 7868866 | rs3822445 | - | G | C/G | single | intron,near-gene-5 | 9 | 1000GENOMES,BUSHMAN,CSHL-HAPMAP,GMI,ILLUMINA-UK,PHARMGKB_PPII,SSMP,TISHKOFF,YUSUKE, | 2 | 0.859432 |
MTRR | chr5 | 7869234 | 7869235 | rs72716536 | + | T | C/T | single | near-gene-5,untranslated-5 | 9 | 1000GENOMES,BL,CLINSEQ_SNP,COMPLETE_GENOMICS,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,SSMP,TISHKOFF, | 2 | 0.170937 |
MTRR | chr5 | 7869383 | 7869386 | rs150132234 | + | CTC | -/CTC | deletion | intron,near-gene-5 | 3 | 1000GENOMES,LUNTER,WARNICH_LAB, | 2 | 0.035813 |
MTRR | chr5 | 7869385 | 7869388 | rs141755990 | + | CCT | -/CCT/CCTCT | in-del | intron,near-gene-5 | 2 | PHARMGKB_PPII,TISHKOFF, | 2 | 0.038328 |
MTRR | chr5 | 7869455 | 7869456 | rs34828626 | + | C | -/C | deletion | intron,near-gene-5 | 7 | 1000GENOMES,ABI,HUMANGENOME_JCVI,LUNTER,PHARMGKB_PPII,PJP,SSMP, | 2 | 0.214482 |
MTRR | chr5 | 7869577 | 7869578 | rs75888760 | + | C | C/T | single | intron,near-gene-5 | 6 | 1000GENOMES,BUSHMAN,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.857339 |
MTRR | chr5 | 7869590 | 7869591 | rs138374466 | + | C | C/T | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.988981 |
MTRR | chr5 | 7869702 | 7869703 | rs75772655 | + | G | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,BUSHMAN,SSMP,TISHKOFF, | 2 | 0.137156 |
MTRR | chr5 | 7869883 | 7869884 | rs79227708 | + | G | A/G | single | intron,near-gene-5 | 5 | 1000GENOMES,BUSHMAN,GMI,SSMP,TISHKOFF, | 2 | 0.083486 |
MTRR | chr5 | 7869899 | 7869900 | rs73737651 | + | G | C/G | single | intron,near-gene-5 | 6 | 1000GENOMES,BUSHMAN,GMI,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.094867 |
MTRR | chr5 | 7870082 | 7870083 | rs326119 | + | C | A/C | single | intron,near-gene-5 | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KWOK,KYUGEN,PHARMGKB_PPII,PJP,SC_JCM,SSMP,TISHKOFF, | 2 | 0.601280 |
MTRR | chr5 | 7870094 | 7870095 | rs12653464 | + | G | A/G | single | intron,near-gene-5 | 11 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,KYUGEN,PHARMGKB_PPII,SSMP,TISHKOFF, | 2 | 0.247938 |
MTRR | chr5 | 7870972 | 7870973 | rs1801394 | + | A | A/G | single | near-gene-5,missense | 29 | 1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HGBASE,HUMANGENOME_JCVI,ILLUMINA,KYUGEN,NHLBI-ESP,OMICIA,OMIM-CURATED-RECORDS,PHARMGKB_PPII,PJP,SEATTLESEQ,SI_EXO,SNP500CANCER,SSMP,TISHKOFF,YUSUKE, | 2 | 0.572342 |
SDHA | chr5 | 218381 | 218381 | rs3214561 | - | - | -/G | insertion | near-gene-5,untranslated-5 | 4 | 1000GENOMES,LUNTER,SSMP,YUSUKE, | 2 | 0.787879 |
SDHA | chr5 | 218387 | 218387 | rs35805262 | + | - | -/C | insertion | near-gene-5,untranslated-5 | 2 | HGSV,LARRIBA, | 2 | 0.882023 |
SDHA | chr5 | 218597 | 218598 | rs2303740 | - | G | C/T | single | intron,near-gene-5 | 10 | 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,YUSUKE, | 2 | 0.649588 |
SDHA | chr5 | 218809 | 218810 | rs1864090 | - | C | A/G | single | intron,near-gene-5 | 2 | SSMP,TSC-CSHL, | 2 | 0.020667 |
SDHA | chr5 | 219021 | 219022 | rs10054902 | + | G | A/G | single | intron,near-gene-5 | 5 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,SSMP,WI_SSAHASNP, | 2 | 0.298624 |
SDHA | chr5 | 219137 | 219138 | rs10061004 | + | C | C/G | single | intron,near-gene-5 | 10 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,ENSEMBL,ILLUMINA-UK,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.782967 |
SDHA | chr5 | 219327 | 219328 | rs10067482 | + | T | G/T | single | intron,near-gene-5 | 11 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,HGSV,ILLUMINA-UK,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.217749 |
SDHA | chr5 | 219396 | 219396 | rs58226981 | + | - | -/TT | insertion | intron,near-gene-5 | 7 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,HGSV,LUNTER,SSMP,TISHKOFF, | 2 | 0.783945 |
SDHA | chr5 | 219505 | 219509 | rs146146961 | + | ACCC | -/ACCC | deletion | intron,near-gene-5 | 4 | 1000GENOMES,GMI,LUNTER,SSMP, | 2 | 0.044077 |
SDHA | chr5 | 219548 | 219549 | rs6859848 | + | A | A/G | single | intron,near-gene-5 | 12 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,ENSEMBL,GMI,HGSV,ILLUMINA-UK,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.722527 |
SDHA | chr5 | 219560 | 219561 | rs6859853 | + | A | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,BCM_SSAHASNP,HGSV,TISHKOFF, | 2 | 0.913303 |
SDHA | chr5 | 219906 | 219907 | rs138004841 | + | C | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,SSMP, | 2 | 0.988981 |
SDHA | chr5 | 220002 | 220002 | rs56026450 | + | - | -/T | insertion | intron,near-gene-5 | 7 | 1000GENOMES,BUSHMAN,HGSV,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.783945 |
SDHA | chr5 | 220229 | 220231 | rs201995405 | + | AG | -/AG | deletion | intron,near-gene-5 | 2 | 1000GENOMES,LUNTER, | 2 | 0.016529 |
ENPP3 | chr6 | 132022991 | 132022992 | rs112641550 | + | A | A/C | single | intron,near-gene-5 | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.949541 |
ENPP3 | chr6 | 132023033 | 132023034 | rs150578170 | + | A | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,GMI, | 2 | 0.828283 |
ENPP3 | chr6 | 132023129 | 132023131 | rs201952293 | + | AT | -/AT | deletion | intron,near-gene-5 | 3 | 1000GENOMES,LUNTER,SSMP, | 2 | 0.042700 |
ENPP3 | chr6 | 132023165 | 132023166 | rs200398525 | + | A | -/A | deletion | intron,near-gene-5 | 3 | 1000GENOMES,BILGI_BIOE,LUNTER, | 2 | 0.058770 |
ENPP3 | chr6 | 132023625 | 132023627 | rs140349321 | + | TT | -/TT | deletion | intron,near-gene-5 | 2 | 1000GENOMES,LUNTER, | 2 | 0.068411 |
ENPP3 | chr6 | 132033371 | 132033372 | rs143146055 | + | G | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,GMI, | 2 | 0.166208 |
ENPP3 | chr6 | 132033682 | 132033683 | rs17090727 | + | A | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,PERLEGEN, | 2 | 0.960708 |
ENPP3 | chr6 | 132033691 | 132033692 | rs17090723 | + | T | C/T | single | intron,near-gene-5 | 1 | PERLEGEN, | 2 | 0.335714 |
POR | chr7 | 75542786 | 75542787 | rs7799657 | + | C | C/T | single | near-gene-5 | 3 | 1000GENOMES,HGSV,WI_SSAHASNP, | 2 | 0.988084 |
POR | chr7 | 75542947 | 75542948 | rs149371800 | + | A | A/G | single | near-gene-5 | 1 | 1000GENOMES, | 2 | 0.984848 |
POR | chr7 | 75544211 | 75544212 | rs12537282 | + | C | C/G/T | single | near-gene-5 | 7 | 1000GENOMES,ABI,CSHL-HAPMAP,ILLUMINA,KRIBB_YJKIM,PHARMGKB_PMT,TISHKOFF, | 2 | 0.952681 |
POR | chr7 | 75544246 | 75544247 | rs72553971 | + | C | A/C | single | near-gene-5 | 3 | 1000GENOMES,ILLUMINA,PHARMGKB_PMT, | 2 | 0.026216 |
POR | chr7 | 75544267 | 75544268 | rs72553972 | + | C | A/C | single | near-gene-5 | 4 | 1000GENOMES,ILLUMINA,PHARMGKB_PMT,SSMP, | 2 | 0.089459 |
POR | chr7 | 75544454 | 75544455 | rs3823884 | - | A | G/T | single | near-gene-5,untranslated-5 | 16 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,ILLUMINA,PERLEGEN,PHARMGKB_PMT,PJP,SSMP,WI_SSAHASNP,WUGSC_SSAHASNP,YUSUKE, | 2 | 0.430056 |
POR | chr7 | 75571305 | 75571306 | rs58648820 | + | G | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,COMPLETE_GENOMICS,HGSV,TISHKOFF, | 2 | 0.072477 |
POR | chr7 | 75571335 | 75571336 | rs112274825 | + | A | A/C | single | intron,near-gene-5 | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.980275 |
POR | chr7 | 75572557 | 75572558 | rs139772877 | + | C | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.983471 |
POR | chr7 | 75572923 | 75572924 | rs73702701 | + | A | A/C | single | intron,near-gene-5 | 4 | 1000GENOMES,ILLUMINA,ILLUMINA-UK,TISHKOFF, | 2 | 0.978440 |
SUGCT | chr7 | 40174672 | 40174673 | rs7793074 | + | C | A/C | single | coding-synon,near-gene-5 | 4 | 1000GENOMES,ILLUMINA,NHLBI-ESP,WI_SSAHASNP, | 2 | 0.035714 |
SUGCT | chr7 | 40175243 | 40175244 | rs142237061 | + | T | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.013774 |
SUGCT | chr7 | 40175963 | 40175964 | rs115025708 | + | G | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.017422 |
SUGCT | chr7 | 40175983 | 40175984 | rs186511123 | + | T | A/T | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.010101 |
SLC25A32 | chr8 | 104425303 | 104425304 | rs3098241 | - | A | C/T | single | intron,near-gene-5 | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.216899 |
SLC25A32 | chr8 | 104425608 | 104425609 | rs3134291 | + | C | C/T | single | intron,near-gene-5 | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.547898 |
SLC25A32 | chr8 | 104425879 | 104425880 | rs115361595 | + | A | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.987369 |
SLC25A32 | chr8 | 104426044 | 104426045 | rs3134292 | + | C | A/C | single | intron,near-gene-5 | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_JCM,SSMP,TISHKOFF, | 2 | 0.258745 |
SLC25A32 | chr8 | 104426083 | 104426084 | rs3134293 | + | C | C/T | single | intron,near-gene-5 | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSMP, | 2 | 0.793236 |
SLC25A32 | chr8 | 104426244 | 104426245 | rs3133817 | + | A | A/G | single | intron,near-gene-5 | 18 | 1000GENOMES,ABI,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_JCM,SSMP,TISHKOFF,YUSUKE, | 2 | 0.736441 |
SLC25A32 | chr8 | 104426530 | 104426531 | rs28630640 | + | C | C/T | single | intron,near-gene-5 | 10 | 1000GENOMES,ABI,BL,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.943681 |
SLC25A32 | chr8 | 104426791 | 104426792 | rs73699799 | + | C | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,ILLUMINA-UK, | 2 | 0.987615 |
SLC25A32 | chr8 | 104426797 | 104426798 | rs3134294 | + | A | A/C | single | intron,near-gene-5 | 2 | 1000GENOMES,SC_JCM, | 2 | 0.966057 |
SLC25A32 | chr8 | 104426909 | 104426910 | rs5893654 | + | T | -/T | deletion | intron,near-gene-5 | 3 | 1000GENOMES,ABI,DEVINE_LAB, | 2 | 0.443119 |
SLC52A2 | chr8 | 145582247 | 145582248 | rs144713518 | + | G | A/G | single | near-gene-5,ncRNA,untranslated-5 | 1 | 1000GENOMES, | 2 | 0.012397 |
SLC52A2 | chr8 | 145582293 | 145582294 | rs115940535 | + | C | A/C | single | intron,near-gene-5,ncRNA,untranslated-5 | 1 | 1000GENOMES, | 2 | 0.030923 |
SLC52A2 | chr8 | 145582739 | 145582740 | rs114304511 | + | A | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.982578 |
SLC52A2 | chr8 | 145582808 | 145582809 | rs115365198 | + | C | C/G | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.985927 |
SLC52A2 | chr8 | 145582838 | 145582839 | rs3817681 | + | T | C/T | single | intron,near-gene-5 | 15 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.417187 |
SLC52A2 | chr8 | 145578811 | 145578812 | rs4515595 | - | G | C/T | single | near-gene-3,near-gene-5 | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,PJP,SC_JCM,SSMP,TISHKOFF, | 2 | 0.710430 |
SLC52A2 | chr8 | 145579703 | 145579704 | rs61747069 | + | T | C/T | single | near-gene-5,missense | 2 | CORNELL,NHLBI-ESP, | 2 | 0.016667 |
SLC52A2 | chr8 | 145579791 | 145579792 | rs2272665 | + | C | A/C | single | near-gene-5,missense | 3 | ILLUMINA,KRIBB_YJKIM,YUSUKE, | 2 | 0.017913 |
SLC52A2 | chr8 | 145579930 | 145579931 | rs200026961 | + | C | C/G | single | intron,near-gene-5 | 2 | BILGI_BIOE,CLINSEQ_SNP, | 2 | 0.820500 |
SLC52A2 | chr8 | 145579931 | 145579932 | rs200985955 | + | C | C/T | single | intron,near-gene-5 | 2 | BILGI_BIOE,CLINSEQ_SNP, | 2 | 0.834500 |
SLC52A2 | chr8 | 145579935 | 145579936 | rs112211890 | + | C | C/T | single | intron,near-gene-5 | 3 | CLINSEQ_SNP,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.773085 |
SLC52A2 | chr8 | 145579952 | 145579953 | rs4993862 | - | T | A/G/T | single | intron,near-gene-5 | 2 | CLINSEQ_SNP,DEVINE_LAB, | 3 | 0.617117 |
SLC52A2 | chr8 | 145579961 | 145579962 | rs77494279 | + | C | C/T | single | near-gene-5,missense | 3 | CLINSEQ_SNP,ENSEMBL,EXOME_CHIP, | 2 | 0.932166 |
SLC52A2 | chr8 | 145579963 | 145579964 | rs75159950 | + | A | A/G | single | coding-synon,near-gene-5 | 4 | CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,ILLUMINA, | 2 | 0.927680 |
SLC52A2 | chr8 | 145579966 | 145579967 | rs77157066 | + | T | C/T | single | coding-synon,near-gene-5 | 2 | CLINSEQ_SNP,ENSEMBL, | 2 | 0.073788 |
SLC52A2 | chr8 | 145580534 | 145580535 | rs61746974 | + | C | C/G | single | near-gene-5,missense | 9 | 1000GENOMES,CLINSEQ_SNP,CORNELL,EXOME_CHIP,GOLDSTEINLAB,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.935919 |
SLC52A2 | chr8 | 145580983 | 145580984 | rs2272666 | + | A | A/G | single | intron,near-gene-5 | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.387120 |
SLC52A2 | chr8 | 145581004 | 145581005 | rs115001185 | + | G | G/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.981707 |
SLC52A2 | chr8 | 145581023 | 145581024 | rs116687799 | + | C | C/T | single | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.981707 |
SLC52A2 | chr8 | 145581556 | 145581557 | rs2280840 | + | G | A/G | single | intron,near-gene-5 | 17 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.480154 |
SLC52A2 | chr8 | 145581949 | 145581950 | rs200282665 | + | C | C/G | single | near-gene-5,missense | 2 | 1000GENOMES,NHLBI-ESP, | 2 | 0.985308 |
SLC52A2 | chr8 | 145582121 | 145582122 | rs183286864 | + | C | C/T | single | near-gene-5,untranslated-5 | 3 | 1000GENOMES,NHLBI-ESP,WARNICH_LAB, | 2 | 0.978421 |
AIFM1 | chrX | 129272440 | 129272441 | rs12010190 | + | A | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,TISHKOFF, | 2 | 0.980048 |
AIFM1 | chrX | 129272448 | 129272449 | rs182805215 | + | T | A/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.029021 |
AIFM1 | chrX | 129272448 | 129272449 | rs200686111 | + | T | -/T | deletion | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.024184 |
AIFM1 | chrX | 129272519 | 129272520 | rs12014323 | + | C | C/T | single | intron,near-gene-5 | 9 | 1000GENOMES,ABI,AFFY,CSHL-HAPMAP,ENSEMBL,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,TISHKOFF, | 2 | 0.968689 |
AIFM1 | chrX | 129272616 | 129272617 | rs12014115 | + | G | A/G | single | coding-synon,intron,near-gene-5 | 9 | 1000GENOMES,ABI,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,ILLUMINA,NHLBI-ESP,SSAHASNP,TISHKOFF, | 2 | 0.033072 |
AIFM1 | chrX | 129273247 | 129273248 | rs209999 | + | A | A/G | single | intron,near-gene-5 | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,ENSEMBL,GMI,HGSV,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.553679 |