Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
---|
ABCB1 | chr 7 | 87138644 | 87138645 | rs1045642 | - | A | A/C/T | coding-synon | 39 | 1000GENOMES,AFFY,AFFY_GWHS,BGI,BUSHMAN,CCHMC-CAE-PGCORE,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,EGP_SN | 4 | 0.006619 |
ABCB1 | chr 7 | 87179600 | 87179601 | rs1128503 | - | A | C/T | coding-synon | 38 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CCHMC-CAE-PGCORE,CGM_KYOTO,CLINSEQ_SNP,CNG,COMPLETE_GENOMICS | 2 | 0.615974 |
ABCB1 | chr 7 | 87178771 | 87178772 | rs35633772 | - | G | C/T | coding-synon | 3 | CORNELL,PHARMGKB_AB_DME,PHARMGKB_PMT, | 2 | 0.985714 |
ABCC1 | chr 16 | 16138312 | 16138313 | rs2230669 | + | G | A/G | coding-synon | 12 | 1000GENOMES,BCMHGSC_JDW,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,EGP_SNPS,ENSEMBL,ILLUMINA,NHLBI-ESP,PH | 2 | 0.037047 |
ABCC1 | chr 16 | 16228241 | 16228242 | rs2230671 | + | G | A/C/G | coding-synon | 29 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CLINSEQ_SNP,CORNELL,CSHL-HAPMAP,EGP_SNPS,ENSEMBL | 4 | 0.144414 |
ABCC1 | chr 16 | 16196493 | 16196494 | rs2230672 | + | C | C/T | coding-synon | 9 | 1000GENOMES,CORNELL,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SNP500CANCER,WICVAR, | 2 | 0.987063 |
ABCC1 | chr 16 | 16138321 | 16138322 | rs246221 | + | T | C/T | coding-synon | 27 | 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,EGP_SNPS,ENSEMBL,GMI,HGSV, | 2 | 0.437174 |
ABCC1 | chr 16 | 16208722 | 16208723 | rs28364000 | + | C | C/T | coding-synon | 1 | PHARMGKB_PHAT, | 2 | 0.982759 |
ABCC1 | chr 16 | 16184365 | 16184366 | rs28364004 | + | G | G/T | coding-synon | 6 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP,PHARMGKB_PHAT,PHARMGKB_PMT, | 2 | 0.983466 |
ABCC1 | chr 16 | 16232379 | 16232380 | rs35148086 | + | C | C/T | coding-synon | 14 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,CORNELL,EGP_SNPS,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PHARMGKB_AB_DME | 2 | 0.98967
|
ABCC1 | chr 16 | 16139713 | 16139714 | rs35587 | + | T | C/T | coding-synon | 26 | 1000GENOMES,BCM_SSAHASNP,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,EGP_SNPS,GMI,HGSV,ILLUMIN | 2 | 0.423778 |
ABCC1 | chr 16 | 16162018 | 16162019 | rs35605 | + | T | C/T | coding-synon | 34 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SN | 2 | 0.816155 |
ABCC1 | chr 16 | 16235122 | 16235123 | rs35980404 | + | C | C/T | coding-synon | 1 | PHARMGKB_PMT, | 2 | 0.833333 |
ABCC1 | chr 16 | 16196568 | 16196569 | rs61731704 | + | G | A/G | coding-synon | 1 | CORNELL, | 2 | 0.01282
|
ABCC1 | chr 16 | 16103718 | 16103719 | rs61731710 | + | A | A/G | coding-synon | 2 | AFFY_DM3_1,CORNELL, | 2 | 0.982759 |
ABCC1 | chr 16 | 16103655 | 16103656 | rs61731711 | + | C | C/T | coding-synon | 2 | AFFY_DM3_1,CORNELL, | 2 | 0.985714 |
ABCC1 | chr 16 | 16130356 | 16130357 | rs8187849 | + | C | C/T | coding-synon | 8 | 1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,ILLUMINA,NHLBI-ESP,PHARMGKB_PMT,SNP500CANCER,TISHKOFF, | 2 | 0.988762 |
ABCC1 | chr 16 | 16139719 | 16139720 | rs8187853 | + | G | A/G | coding-synon | 11 | 1000GENOMES,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,CORNELL,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PHARMGK | 2 | 0.026831 |
ABCC1 | chr 16 | 16162038 | 16162039 | rs8187858 | + | C | C/T | coding-synon | 13 | 1000GENOMES,BCMHGSC_JDW,CLINSEQ_SNP,EGP_SNPS,ENSEMBL,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGK | 2 | 0.953007 |
ABCC1 | chr 16 | 16173220 | 16173221 | rs8187863 | + | C | C/T | coding-synon | 10 | 1000GENOMES,CLINSEQ_SNP,CORNELL,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_PHAT,PHARM | 2 | 0.984105 |
ABCC1 | chr 16 | 16219728 | 16219729 | rs9933640 | + | C | C/T | coding-synon | 11 | 1000GENOMES,BCM_SSAHASNP,CORNELL,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PHARMGKB_AB_DME,PHARMGKB_PM | 2 | 0.979285 |
ABCC2 | chr 10 | 101606860 | 101606861 | rs1137968 | + | G | G/T | coding-synon | 15 | 1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,GMI,ILLUMINA,LEE,NHLBI-ESP,PHARMGKB_AB_DME,PHARMGKB_PMT,S | 2 | 0.944109 |
ABCC2 | chr 10 | 101563784 | 101563785 | rs17216198 | + | C | C/T | coding-synon | 9 | 1000GENOMES,APPLERA_GI,CLINSEQ_SNP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PHARMGKB_AB_DME,PHARMGKB_PMT,SNP50 | 2 | 0.988994 |
ABCC2 | chr 10 | 101605454 | 101605455 | rs17216275 | + | C | C/T | coding-synon | 9 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PHARMGKB_PMT,SEATTLESEQ,TISHKOFF, | 2 | 0.985061 |
ABCC2 | chr 10 | 101604206 | 101604207 | rs3740066 | - | C | A/G | coding-synon | 31 | 1000GENOMES,ABI,APPLERA_GI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,CNG,COMPLETE_GENOMICS,CS | 2 | 0.321572 |
ABCC2 | chr 10 | 101591417 | 101591418 | rs3740070 | - | G | A/C/G | coding-synon | 12 | 1000GENOMES,GMI,IKP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_AB_DME,PHARMGKB_PMT,RIKENSNPRC, | 2 | 0.988571 |
ABCC2 | chr 10 | 101605502 | 101605503 | rs7899457 | + | C | C/T | coding-synon | 12 | 1000GENOMES,AFFY,CLINSEQ_SNP,CORNELL,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PHARMGKB_AB_DME,PHARMGKB_PMT,SNP | 2 | 0.965903 |
ABCC2 | chr 10 | 101610454 | 101610455 | rs8187706 | + | G | A/G | coding-synon | 12 | 1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_AB_DME,P | 2 | 0.035233 |
ABCC2 | chr 10 | 101610532 | 101610533 | rs8187707 | + | C | C/T | coding-synon | 17 | 1000GENOMES,APPLERA_GI,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,CNG,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN | 2 | 0.949523 |
ALDH1L1 | chr 3 | 125872292 | 125872293 | rs16837178 | + | G | A/G | coding-synon,nc | 14 | 1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEG | 2 | 0.077844 |
ALDH1L1 | chr 3 | 125856694 | 125856695 | rs2305230 | + | C | A/C | coding-synon,nc | 22 | 1000GENOMES,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,EN | 2 | 0.233075 |
AMT | chr 3 | 49455329 | 49455330 | rs11715915 | + | C | C/T | coding-synon,nc | 21 | 1000GENOMES,ABI,AFFY,APPLERA_GI,BL,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI, | 2 | 0.735943 |
ATIC | chr 2 | 216211603 | 216211604 | rs112288749 | + | A | A/G | coding-synon | 4 | 1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,NHLBI-ESP, | 2 | 0.986865 |
BHMT | chr 5 | 78423734 | 78423735 | rs56915878 | + | A | A/G | coding-synon | 5 | 1000GENOMES,CLINSEQ_SNP,CORNELL,NHLBI-ESP,PHARMGKB_PPII, | 2 | 0.989594 |
BHMT | chr 5 | 78423620 | 78423621 | rs60340837 | + | C | C/T | coding-synon | 8 | 1000GENOMES,CLINSEQ_SNP,CORNELL,GMI,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,SSMP, | 2 | 0.977975 |
CBS | chr 21 | 44480615 | 44480616 | rs1801181 | - | G | C/T | coding-synon | 23 | 1000GENOMES,ABI,APPLERA_GI,BGI,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGBASE | 2 | 0.719665 |
CBS | chr 21 | 44485349 | 44485350 | rs234706 | + | G | A/G | coding-synon | 28 | 1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,CSHL-HAPMAP | 3 | 0.264448 |
CD320 | chr 19 | 8367358 | 8367359 | rs2227289 | - | G | C/G | coding-synon | 15 | 1000GENOMES,APPLERA_GI,BCM_SSAHASNP,BGI,CLINSEQ_SNP,GENAISSANCE,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PERLE | 2 | 0.868887 |
CD320 | chr 19 | 8368793 | 8368794 | rs2232783 | - | C | G/T | coding-synon | 17 | 1000GENOMES,ABI,APPLERA_GI,BCM_SSAHASNP,BGI,BL,CLINSEQ_SNP,GENAISSANCE,HGSV,ILLUMINA,KRIBB_YJKIM,NHL | 2 | 0.864939 |
CD320 | chr 19 | 8368757 | 8368758 | rs2232784 | - | G | C/T | coding-synon | 18 | 1000GENOMES,ABI,APPLERA_GI,BCM_SSAHASNP,BGI,BL,CLINSEQ_SNP,GENAISSANCE,HGSV,ILLUMINA,NHLBI-ESP,PERLE | 2 | 0.869539 |
CUBN | chr 10 | 16967324 | 16967325 | rs11254278 | + | C | C/T | coding-synon | 11 | 1000GENOMES,BGI,BL,BUSHMAN,CLINSEQ_SNP,GMI,ILLUMINA,NHLBI-ESP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.98637
|
CUBN | chr 10 | 16994371 | 16994372 | rs114958584 | + | G | A/G | coding-synon | 4 | 1000GENOMES,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.010401 |
CUBN | chr 10 | 17146589 | 17146590 | rs12571671 | + | A | A/G | coding-synon | 14 | 1000GENOMES,ABI,BUSHMAN,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEAT | 2 | 0.934781 |
CUBN | chr 10 | 17113478 | 17113479 | rs17432826 | + | G | A/G | coding-synon | 8 | 1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,ILLUMINA,NHLBI-ESP,PERLEGEN,SI_EXO,SSMP, | 2 | 0.014264 |
CUBN | chr 10 | 17152993 | 17152994 | rs1801223 | - | G | C/T | coding-synon | 19 | 1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,HGBASE,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,N | 4 | 0.03628
|
CUBN | chr 10 | 17113562 | 17113563 | rs1801225 | - | C | A/G | coding-synon | 24 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGBASE,HGSV,HUMANGENOME_JC | 2 | 0.343285 |
CUBN | chr 10 | 17088005 | 17088006 | rs1801228 | - | T | A/G | coding-synon | 11 | 1000GENOMES,BGI,CLINSEQ_SNP,HGBASE,ILLUMINA,NHLBI-ESP,PERLEGEN,RSG_JCVI,SI_EXO,SSMP,YUSUKE, | 2 | 0.967861 |
CUBN | chr 10 | 17024614 | 17024615 | rs1801229 | - | A | A/T | coding-synon | 26 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPM | 2 | 0.708202 |
CUBN | chr 10 | 16870911 | 16870912 | rs1801232 | - | G | A/C/G | coding-synon,mi | 19 | 1000GENOMES,ABI,AFFY,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGBASE,HUMANGENOME_JCVI,ILLUMINA | 2 | 0.0705
|
CUBN | chr 10 | 16979660 | 16979661 | rs1801234 | - | T | A/G | coding-synon | 26 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGBAS | 3 | 0.474833 |