Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Class | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
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DLD | chr7 | 107569516 | 107569517 | rs1131398 | - | A | C/T | single | coding-synon | 26 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,LEE,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SEQUENOM,SI_EXO,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.452699 |
POR | chr7 | 75583324 | 75583325 | rs10262966 | + | A | A/G | single | coding-synon | 13 | 1000GENOMES,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,HGSV,ILLUMINA,NHLBI-ESP,PHARMGKB_PMT,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.933901 |
POR | chr7 | 75609676 | 75609677 | rs1135612 | + | A | A/G/T | single | coding-synon | 22 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,EXOME_CHIP,GMI,ILLUMINA,LEE,NHLBI-ESP,PERLEGEN,PHARMGKB_AB_DME,PHARMGKB_PMT,SNP500CANCER,SSMP,WIAF-CSNP,YUSUKE, | 3 | 0.715455 |
POR | chr7 | 75614952 | 75614953 | rs2228104 | + | T | C/T | single | coding-synon | 24 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,MGC_GENOME_DIFF,NHLBI-ESP,PHARMGKB_PMT,PJP,SSAHASNP,SSMP,TISHKOFF,WIAF-CSNP,WUGSC_SSAHASNP, | 2 | 0.822355 |
POR | chr7 | 75615286 | 75615287 | rs1057870 | + | G | A/G | single | coding-synon | 23 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,PHARMGKB_AB_DME,PHARMGKB_PMT,PJP,SEQUENOM,SNP500CANCER,SSAHASNP,SSMP,TISHKOFF,WIAF-CSNP, | 2 | 0.173680 |
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 | 40314164 | 40314165 | rs12669315 | + | G | A/G | single | coding-synon,intron | 13 | 1000GENOMES,ABI,AFFY,APPLERA_GI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SSMP,TISHKOFF, | 2 | 0.317389 |
SUGCT | chr7 | 40314242 | 40314243 | rs4637704 | + | A | A/G | single | coding-synon,intron | 15 | 1000GENOMES,ABI,BGI,BL,CLINSEQ_SNP,CSHL-HAPMAP,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SC_JCM,SSMP,TISHKOFF, | 2 | 0.667015 |
SUGCT | chr7 | 40899966 | 40899967 | rs2010706 | + | G | C/G | single | coding-synon | 22 | 1000GENOMES,ABI,APPLERA_GI,BCM_SSAHASNP,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PJP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP,WUGSC_SSAHASNP,YUSUKE, | 2 | 0.444095 |
SUGCT | chr7 | 40899987 | 40899988 | rs35870589 | + | G | A/G | single | coding-synon | 1 | APPLERA_GI, | 2 | 0.012820 |
SLC52A2 | chr8 | 145578295 | 145578296 | rs2272663 | - | A | C/T | single | coding-synon,ncRNA | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,WI_SSAHASNP,YUSUKE, | 2 | 0.549065 |
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 |
RFK | chr9 | 79003515 | 79003516 | rs10781358 | + | C | C/G | single | coding-synon | 17 | 1000GENOMES,ABI,APPLERA_GI,BCMHGSC_JDW,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,HGSV,NHLBI-ESP,PJP,SC_SNP,SEATTLESEQ,SI_EXO,SSMP,TISHKOFF, | 2 | 0.833527 |
AIFM1 | chrX | 129271131 | 129271132 | rs12007545 | + | T | C/T | single | coding-synon,untranslated-3,untranslated-5 | 9 | 1000GENOMES,ABI,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,TISHKOFF, | 2 | 0.032759 |
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 | 129283519 | 129283520 | rs1139851 | - | A | C/T | single | coding-synon,intron | 27 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,CANCER-GENOME,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,LEE,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SEATTLESEQ,SEQUENOM,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 3 | 0.003894 |
CYBB | chrX | 37663233 | 37663234 | rs2228117 | + | G | A/G | single | coding-synon | 13 | 1000GENOMES,AFFY,CORNELL,HGSV,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,RSG_UW,SEATTLESEQ,SNP500CANCER,TISHKOFF,WIAF-CSNP, | 3 | 0.006435 |