Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Class | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
---|
PNPO | chr17 | 46020697 | 46020698 | rs11079804 | + | C | C/T | single | coding-synon,near-gene-5 | 20 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PJP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.854557 |
PNPO | chr17 | 46023294 | 46023295 | rs35974730 | + | C | C/G | single | coding-synon | 11 | 1000GENOMES,ABI,CLINSEQ_SNP,CORNELL,ENSEMBL,EXOME_CHIP,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,PJP,TISHKOFF, | 2 | 0.980497 |
PNPO | chr17 | 46023693 | 46023694 | rs4378657 | + | G | A/G | single | coding-synon | 10 | 1000GENOMES,ABI,APPLERA_GI,CLINSEQ_SNP,DEVINE_LAB,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SC_JCM,TISHKOFF, | 2 | 0.060046 |
SLC52A1 | chr17 | 4936335 | 4936336 | rs72822610 | + | A | A/T | single | coding-synon | 10 | 1000GENOMES,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.868427 |
SLC52A1 | chr17 | 4937350 | 4937351 | rs56126318 | + | G | G/T | single | coding-synon | 8 | 1000GENOMES,CLINSEQ_SNP,GMI,HGSV,ILLUMINA,NHLBI-ESP,SEATTLESEQ,SSMP, | 2 | 0.931280 |
NDUFV2 | chr18 | 9119488 | 9119489 | rs41274300 | + | A | A/T | single | coding-synon | 12 | 1000GENOMES,BCMHGSC_JDW,CLINSEQ_SNP,CORNELL,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,PJP,SI_EXO,SSMP,TISHKOFF, | 2 | 0.886143 |
NDUFV2 | chr18 | 9122590 | 9122591 | rs76552443 | + | T | C/T | single | coding-synon | 5 | BL,BUSHMAN,CLINSEQ_SNP,GMI,SEATTLESEQ, | 2 | 0.120794 |
ACP5 | chr19 | 11685947 | 11685948 | rs77911902 | + | A | A/G | single | coding-synon | 6 | 1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,ILLUMINA,NHLBI-ESP,SEATTLESEQ, | 2 | 0.966983 |
ACP5 | chr19 | 11687604 | 11687605 | rs2229530 | - | G | C/T | single | coding-synon | 3 | ILLUMINA,KRIBB_YJKIM,WICVAR, | 2 | 0.982759 |
ACP5 | chr19 | 11687907 | 11687908 | rs62638747 | + | G | A/G | single | coding-synon | 8 | 1000GENOMES,CLINSEQ_SNP,CORNELL,GMI,ILLUMINA,NHLBI-ESP,SSMP,TISHKOFF, | 2 | 0.088622 |
BLVRB | chr19 | 40964311 | 40964312 | rs1061197 | - | G | C/T | single | coding-synon | 19 | 1000GENOMES,BCMHGSC_JDW,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,SC_JCM,SEATTLESEQ,SEQUENOM,SSMP,TISHKOFF,WICVAR,YUSUKE, | 2 | 0.884172 |
ETFB | chr19 | 51857703 | 51857704 | rs1862495 | + | C | C/T | single | coding-synon,intron | 10 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,TSC-CSHL, | 2 | 0.981894 |
GCDH | chr19 | 13008606 | 13008607 | rs1060218 | + | G | G/T | single | coding-synon,ncRNA | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,CGAP-GAI,CLINSEQ_SNP,CORNELL,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,PJP,SC_SNP,SEATTLESEQ,SEQUENOM,SI_EXO,SSMP,TISHKOFF,WICVAR, | 2 | 0.731857 |
ACP1 | chr2 | 272050 | 272051 | rs11553742 | + | C | C/T | single | coding-synon,intron,ncRNA | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,HUMANGENOME_JCVI,NHLBI-ESP,PERLEGEN,PJP,SSAHASNP, | 2 | 0.963098 |
ACP1 | chr2 | 272202 | 272203 | rs11553746 | + | C | C/T | single | coding-synon,intron,ncRNA,missense | 19 | 1000GENOMES,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.738443 |
AGPS | chr2 | 178257663 | 178257664 | rs34442536 | - | C | A/G | single | coding-synon,near-gene-5 | 5 | 1000GENOMES,APPLERA_GI,ILLUMINA,NHLBI-ESP,SEATTLESEQ, | 2 | 0.029676 |
AGPS | chr2 | 178257723 | 178257724 | rs34744592 | - | A | C/T | single | coding-synon,near-gene-5 | 7 | 1000GENOMES,APPLERA_GI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SEATTLESEQ,SSMP, | 2 | 0.027019 |
AGPS | chr2 | 178346853 | 178346854 | rs115580413 | + | C | C/G | single | coding-synon | 2 | 1000GENOMES,NHLBI-ESP, | 2 | 0.983617 |
D2HGDH | chr2 | 242690769 | 242690770 | rs141343442 | + | T | C/T | single | coding-synon | 3 | 1000GENOMES,ILLUMINA,NHLBI-ESP, | 2 | 0.027265 |
D2HGDH | chr2 | 242707212 | 242707213 | rs111670322 | + | G | A/G | single | coding-synon | 3 | 1000GENOMES,BUSHMAN,NHLBI-ESP, | 2 | 0.031813 |
XDH | chr2 | 31562411 | 31562412 | rs207440 | - | C | A/G | single | coding-synon | 16 | 1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,KWOK,NHLBI-ESP,PHARMGKB_AB_DME,SC_JCM,SEATTLESEQ,SI_EXO,SNP500CANCER,SSMP,TISHKOFF, | 2 | 0.052303 |
XDH | chr2 | 31571196 | 31571197 | rs45604135 | - | G | C/T | single | coding-synon | 10 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,CORNELL,EGP_SNPS,ILLUMINA,NHLBI-ESP,PHARMGKB_AB_DME,SNP500CANCER,TISHKOFF, | 2 | 0.982947 |
XDH | chr2 | 31571785 | 31571786 | rs1884725 | + | A | A/G | single | coding-synon | 30 | 1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PHARMGKB_AB_DME,PJP,SC_JCM,SEATTLESEQ,SI_EXO,SNP500CANCER,SSMP,TISHKOFF,TSC-CSHL,WUGSC_SSAHASNP, | 2 | 0.214128 |
XDH | chr2 | 31589846 | 31589847 | rs2295475 | + | G | A/G | single | coding-synon | 25 | 1000GENOMES,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_AB_DME,PJP,SEATTLESEQ,SI_EXO,SNP500CANCER,SSMP,YUSUKE, | 2 | 0.234547 |
XDH | chr2 | 31598338 | 31598339 | rs45612839 | - | G | C/G | single | coding-synon | 8 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,CORNELL,EGP_SNPS,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.935848 |
XDH | chr2 | 31600016 | 31600017 | rs45471294 | - | C | A/G | single | coding-synon | 10 | 1000GENOMES,CLINSEQ_SNP,CORNELL,EGP_SNPS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_AB_DME,SNP500CANCER,SSMP, | 2 | 0.014113 |
XDH | chr2 | 31602840 | 31602841 | rs45612738 | - | G | C/T | single | coding-synon | 9 | 1000GENOMES,CLINSEQ_SNP,CORNELL,EGP_SNPS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_AB_DME,SNP500CANCER, | 2 | 0.981882 |
XDH | chr2 | 31606669 | 31606670 | rs4407290 | + | G | A/G | single | coding-synon | 16 | 1000GENOMES,AFFY,BCM-HGSC-SUB,CLINSEQ_SNP,DEVINE_LAB,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_AB_DME,SC_JCM,SEATTLESEQ,SNP500CANCER,SSMP,TISHKOFF, | 2 | 0.034553 |
XDH | chr2 | 31610700 | 31610701 | rs45575032 | - | C | A/G | single | coding-synon | 9 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,EGP_SNPS,ILLUMINA,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.028115 |
SLC52A3 | chr20 | 741846 | 741847 | rs910857 | + | A | A/G | single | coding-synon | 27 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CORNELL,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SEATTLESEQ,SI_EXO,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.391146 |
SLC52A3 | chr20 | 744233 | 744234 | rs62641669 | + | C | C/G | single | coding-synon | 2 | CORNELL,NHLBI-ESP, | 2 | 0.985473 |
SLC52A3 | chr20 | 744449 | 744450 | rs3746805 | + | G | A/G | single | coding-synon | 19 | 1000GENOMES,AFFY,APPLERA_GI,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,HGSV,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SI_EXO,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.333374 |
SLC52A3 | chr20 | 744569 | 744570 | rs6054605 | + | G | A/G | single | coding-synon | 14 | 1000GENOMES,APPLERA_GI,BGI,BUSHMAN,CLINSEQ_SNP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SC_SNP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.092203 |
SLC52A3 | chr20 | 744614 | 744615 | rs16992990 | + | G | A/G | single | coding-synon | 5 | 1000GENOMES,ILLUMINA,NHLBI-ESP,PERLEGEN,SSMP, | 2 | 0.013328 |
SLC52A3 | chr20 | 745962 | 745963 | rs3746807 | + | G | A/G | single | coding-synon | 15 | 1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SC_SNP,SEATTLESEQ,SI_EXO,SSMP,TISHKOFF,YUSUKE, | 2 | 0.115130 |
SLC52A3 | chr20 | 746097 | 746098 | rs3746808 | + | G | A/G | single | coding-synon | 25 | 1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SI_EXO,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.246467 |
SLC52A3 | chr20 | 746178 | 746179 | rs34376836 | - | G | C/T | single | coding-synon | 6 | 1000GENOMES,APPLERA_GI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ, | 2 | 0.983986 |
CYB5R3 | chr22 | 43032741 | 43032742 | rs5996200 | + | C | C/T | single | coding-synon | 18 | 1000GENOMES,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,EGP_SNPS,ENSEMBL,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SEATTLESEQ,SI_EXO,SSMP,TISHKOFF, | 2 | 0.882252 |
CYB5R3 | chr22 | 43036244 | 43036245 | rs6519327 | + | G | A/G | single | coding-synon,intron | 12 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,GMI,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PJP,SSMP,WI_SSAHASNP, | 2 | 0.270385 |
CYB5R3 | chr22 | 43036250 | 43036251 | rs11549139 | - | C | A/G | single | coding-synon,intron | 2 | CGAP-GAI,SEQUENOM, | 2 | 0.280000 |
PRODH | chr22 | 18900749 | 18900750 | rs372055 | + | G | A/G | single | coding-synon | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CANCER-GENOME,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,PJP,SC_JCM,SEATTLESEQ,SI_EXO,SSMP, | 2 | 0.746700 |
PRODH | chr22 | 18900867 | 18900868 | rs16983347 | + | G | A/C/G | single | coding-synon | 8 | 1000GENOMES,CANCER-GENOME,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.025756 |
PRODH | chr22 | 18904413 | 18904414 | rs455072 | + | A | A/G | single | coding-synon | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,LEE,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP, | 2 | 0.168524 |
PRODH | chr22 | 18904488 | 18904489 | rs5992333 | + | G | A/G | single | coding-synon | 11 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.025036 |
PRODH | chr22 | 18905881 | 18905882 | rs2904550 | + | G | G/T | single | coding-synon | 8 | 1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,NHLBI-ESP,SC_SNP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.980248 |
PRODH | chr22 | 18905893 | 18905894 | rs2238730 | + | C | C/T | single | coding-synon | 10 | 1000GENOMES,BCM_SSAHASNP,CLINSEQ_SNP,NHLBI-ESP,PERLEGEN,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.977445 |
PRODH | chr22 | 18905977 | 18905978 | rs16983466 | + | G | A/G | single | coding-synon | 9 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.128494 |
PRODH | chr22 | 18907041 | 18907042 | rs3970556 | + | G | A/G | single | coding-synon | 5 | 1000GENOMES,CLINSEQ_SNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.020225 |
PRODH | chr22 | 18908874 | 18908875 | rs1808320 | + | A | A/G | single | coding-synon | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PJP,SC_SNP,SEATTLESEQ,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.301001 |
PRODH | chr22 | 18923584 | 18923585 | rs1808323 | + | C | C/G | single | coding-synon,intron | 5 | 1000GENOMES,HGSV,SSMP,TSC-CSHL,YUSUKE, | 2 | 0.873853 |
TXNRD2 | chr22 | 19867770 | 19867771 | rs1139795 | - | C | A/G | single | coding-synon | 20 | 1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,LEE,NHLBI-ESP,PJP,SEATTLESEQ,SEQUENOM,SI_EXO,SSMP,TISHKOFF, | 2 | 0.217342 |
TXNRD2 | chr22 | 19868227 | 19868228 | rs35544159 | - | G | C/T | single | coding-synon | 6 | 1000GENOMES,APPLERA_GI,CLINSEQ_SNP,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ, | 2 | 0.986312 |
TXNRD2 | chr22 | 19906510 | 19906511 | rs11541479 | - | G | C/T | single | coding-synon | 17 | 1000GENOMES,ABI,BCMHGSC_JDW,CGAP-GAI,CLINSEQ_SNP,CORNELL,ENSEMBL,EXOME_CHIP,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PJP,SC_SNP,SEATTLESEQ,SSMP, | 2 | 0.828670 |
TXNRD2 | chr22 | 19907117 | 19907118 | rs5748470 | + | G | A/G | single | coding-synon | 21 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.581461 |
ACAD9 | chr3 | 128614184 | 128614185 | rs1680778 | + | A | A/C | single | coding-synon,ncRNA | 24 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SEATTLESEQ,SSMP,TISHKOFF, | 3 | 0.501608 |
ACAD9 | chr3 | 128618282 | 128618283 | rs1979529 | + | T | C/T | single | coding-synon,ncRNA | 10 | 1000GENOMES,BCMHGSC_JDW,CLINSEQ_SNP,CORNELL,CSHL-HAPMAP,ENSEMBL,ILLUMINA,NHLBI-ESP,SSMP,TSC-CSHL, | 2 | 0.028382 |
ACAD9 | chr3 | 128627932 | 128627933 | rs876755 | + | C | C/T | single | coding-synon,ncRNA | 24 | 1000GENOMES,ABI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.722999 |
ACOX2 | chr3 | 58512236 | 58512237 | rs1127745 | - | A | C/T | single | coding-synon | 21 | 1000GENOMES,BCM_SSAHASNP,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,LEE,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.281897 |
ACOX2 | chr3 | 58512284 | 58512285 | rs13097249 | + | T | C/T | single | coding-synon | 12 | 1000GENOMES,AFFY,CLINSEQ_SNP,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PJP,SEATTLESEQ,SSAHASNP,TISHKOFF, | 2 | 0.068391 |
ACOX2 | chr3 | 58512374 | 58512375 | rs1127743 | - | T | A/G | single | coding-synon | 14 | 1000GENOMES,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGSV,ILLUMINA,LEE,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF, | 4 | 0.826120 |
ACOX2 | chr3 | 58517519 | 58517520 | rs57216393 | + | A | A/G | single | coding-synon | 9 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.923032 |
MTRR | chr5 | 7866966 | 7866967 | rs162030 | + | G | C/G | single | coding-synon,intron | 27 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.822946 |
MTRR | chr5 | 7867026 | 7867027 | rs77130393 | + | A | A/G | single | coding-synon,intron | 4 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP, | 2 | 0.983853 |
MTRR | chr5 | 7878191 | 7878192 | rs161870 | + | T | C/T | single | coding-synon | 23 | 1000GENOMES,ABI,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KWOK,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SC_JCM,SEATTLESEQ,SNP500CANCER,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP,YUSUKE, | 2 | 0.216049 |
MTRR | chr5 | 7889215 | 7889216 | rs2287779 | + | G | A/G | single | coding-synon | 16 | 1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PHARMGKB_PPII,SEATTLESEQ,SI_EXO,SNP500CANCER,SSMP,TISHKOFF,YUSUKE, | 2 | 0.049650 |
MTRR | chr5 | 7892932 | 7892933 | rs35890938 | - | A | C/T | single | coding-synon | 8 | 1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,SI_EXO, | 2 | 0.018837 |
MTRR | chr5 | 7893004 | 7893005 | rs34172797 | - | C | A/G | single | coding-synon | 8 | 1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,SI_EXO, | 2 | 0.019431 |
MTRR | chr5 | 7897060 | 7897061 | rs6874544 | + | T | C/T | single | coding-synon | 12 | 1000GENOMES,ABI,APPLERA_GI,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,CSHL-HAPMAP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,SNP500CANCER, | 2 | 0.018671 |
MTRR | chr5 | 7897282 | 7897283 | rs12347 | - | G | C/T | single | coding-synon | 26 | 1000GENOMES,ABI,APPLERA_GI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,LEE,NHLBI-ESP,PHARMGKB_PPII,PJP,SC_JCM,SEATTLESEQ,SI_EXO,SNP500CANCER,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.782141 |
MTRR | chr5 | 7897318 | 7897319 | rs1802059 | + | G | A/G | single | coding-synon | 23 | 1000GENOMES,ABI,APPLERA_GI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGBASE,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PHARMGKB_PPII,PJP,SEATTLESEQ,SI_EXO,SNP500CANCER,SSMP,TISHKOFF, | 2 | 0.296916 |
SDHA | chr5 | 224632 | 224633 | rs1139424 | + | A | A/G | single | coding-synon | 11 | 1000GENOMES,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,LEE,MGC_GENOME_DIFF,NHLBI-ESP,PJP,SI_EXO,SSMP,WI_SSAHASNP, | 2 | 0.780042 |
SDHA | chr5 | 226159 | 226160 | rs6555055 | + | A | A/C | single | coding-synon | 21 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CANCER-GENOME,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,ENSEMBL,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,LARRIBA,NHLBI-ESP,PJP,SEATTLESEQ,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.750778 |
SDHA | chr5 | 228361 | 228362 | rs2115272 | - | T | A/G | single | coding-synon | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGSV,ILLUMINA-UK,LARRIBA,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP,YUSUKE, | 2 | 0.754177 |
SDHA | chr5 | 231041 | 231042 | rs34771391 | + | C | C/T | single | coding-synon | 5 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,LARRIBA,NHLBI-ESP, | 2 | 0.989329 |
SDHA | chr5 | 231110 | 231111 | rs1126417 | + | T | C/T | single | coding-synon | 25 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,LARRIBA,LEE,MGC_GENOME_DIFF,NHLBI-ESP,PJP,SEATTLESEQ,SEQUENOM,SSAHASNP,SSMP,YUSUKE, | 2 | 0.727076 |
SDHA | chr5 | 233691 | 233692 | rs1062467 | + | T | C/T | single | coding-synon | 2 | LEE,SEQUENOM, | 2 | 0.810000 |
SDHA | chr5 | 233733 | 233734 | rs1041949 | + | C | C/G | single | coding-synon | 18 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,HGSV,ILLUMINA-UK,LARRIBA,LEE,NHLBI-ESP,PJP,SEATTLESEQ,SEQUENOM,SI_EXO,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.724995 |
SDHA | chr5 | 235363 | 235364 | rs35277230 | + | C | C/T | single | coding-synon | 9 | 1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,HGSV,ILLUMINA-UK,LARRIBA,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.898970 |
SDHA | chr5 | 236586 | 236587 | rs150831951 | + | G | G/T | single | coding-synon | 4 | 1000GENOMES,CLINSEQ_SNP,NHLBI-ESP,SSMP, | 2 | 0.986471 |
SDHA | chr5 | 236616 | 236617 | rs200223188 | + | G | A/G/T | single | coding-synon | 1 | CLINSEQ_SNP, | 3 | 0.002000 |
SDHA | chr5 | 236652 | 236653 | rs75091805 | + | C | A/C | single | coding-synon | 3 | 1000GENOMES,CLINSEQ_SNP,GMI, | 2 | 0.116910 |
SDHA | chr5 | 251468 | 251469 | rs10039029 | + | G | A/G | single | coding-synon | 7 | 1000GENOMES,BCMHGSC_JDW,CLINSEQ_SNP,ILLUMINA-UK,SI_EXO,SSMP,WI_SSAHASNP, | 2 | 0.165050 |
SDHA | chr5 | 251507 | 251508 | rs17415917 | + | G | A/G | single | coding-synon | 1 | SEQUENOM, | 2 | 0.030000 |
SDHA | chr5 | 251540 | 251541 | rs77210621 | + | A | A/G | single | coding-synon | 8 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,CLINSEQ_SNP,ENSEMBL,NHLBI-ESP,SEATTLESEQ,SSMP, | 2 | 0.757013 |
SDHA | chr5 | 251564 | 251565 | rs1126538 | + | T | C/T | single | coding-synon | 6 | 1000GENOMES,EXOME_CHIP,LEE,NHLBI-ESP,SEATTLESEQ,SEQUENOM, | 2 | 0.014217 |
SDHA | chr5 | 254608 | 254609 | rs17415225 | + | T | C/T | single | coding-synon | 1 | SEQUENOM, | 2 | 0.620000 |
SDHA | chr5 | 256471 | 256472 | rs6961 | + | G | A/G | single | coding-synon | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,LARRIBA,LEE,NHLBI-ESP,PJP,SEATTLESEQ,SEQUENOM,SSMP,WI_SSAHASNP, | 2 | 0.322600 |
SDHA | chr5 | 256513 | 256514 | rs1042446 | + | G | A/C/G | single | coding-synon | 4 | CLINSEQ_SNP,LEE,NHLBI-ESP,SEQUENOM, | 2 | 0.026873 |
ENPP1 | chr6 | 132190540 | 132190541 | rs9483347 | + | A | A/G | single | coding-synon | 5 | 1000GENOMES,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SC_SNP, | 2 | 0.985970 |
ENPP1 | chr6 | 132190552 | 132190553 | rs113723070 | + | T | C/T | single | coding-synon | 5 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP, | 2 | 0.014997 |
ENPP1 | chr6 | 132203489 | 132203490 | rs7750837 | + | T | C/T | single | coding-synon | 4 | 1000GENOMES,ILLUMINA,NHLBI-ESP,WI_SSAHASNP, | 2 | 0.014780 |
ENPP1 | chr6 | 132211533 | 132211534 | rs1804025 | + | A | A/G | single | coding-synon | 15 | 1000GENOMES,ABI,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,CSHL-HAPMAP,HGBASE,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.915084 |
ENPP3 | chr6 | 131995312 | 131995313 | rs9493048 | + | A | A/G | single | coding-synon | 21 | 1000GENOMES,AFFY,APPLERA_GI,BCMHGSC_JDW,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.739617 |
ENPP3 | chr6 | 132022418 | 132022419 | rs201739285 | + | G | A/G | single | coding-synon,intron | 2 | CLINSEQ_SNP,GMI, | 2 | 0.112500 |
ENPP3 | chr6 | 132030036 | 132030037 | rs56095307 | + | T | C/T | single | coding-synon,intron | 5 | 1000GENOMES,CLINSEQ_SNP,GMI,ILLUMINA,NHLBI-ESP, | 2 | 0.053730 |
IYD | chr6 | 150719239 | 150719240 | rs73619510 | + | G | A/G | single | coding-synon,missense,untranslated-3 | 7 | 1000GENOMES,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.016934 |
DLD | chr7 | 107542819 | 107542820 | rs2228664 | + | T | A/C/T | single | coding-synon | 10 | 1000GENOMES,BUSHMAN,CANCER-GENOME,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SEATTLESEQ,TISHKOFF,WIAF-CSNP, | 3 | 0.000126 |
DLD | chr7 | 107546803 | 107546804 | rs73726765 | + | T | C/T | single | coding-synon | 6 | 1000GENOMES,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.015084 |
DLD | chr7 | 107556042 | 107556043 | rs1065762 | + | A | A/G | single | coding-synon | 9 | 1000GENOMES,BUSHMAN,CANCER-GENOME,ILLUMINA,NHLBI-ESP,PERLEGEN,SEATTLESEQ,TISHKOFF,WIAF-CSNP, | 2 | 0.988701 |
DLD | chr7 | 107558482 | 107558483 | rs1803921 | + | C | C/T | single | coding-synon | 9 | 1000GENOMES,CORNELL,HGBASE,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,TISHKOFF,WI_SSAHASNP, | 2 | 0.939288 |