Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Class | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
---|
ACADM | chr1 | 76199276 | 76199277 | rs74090726 | + | A | A/C | single | coding-synon | 8 | 1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.951073 |
ACADM | chr1 | 76205684 | 76205685 | rs78392995 | + | T | G/T | single | coding-synon | 3 | 1000GENOMES,ILLUMINA,NHLBI-ESP, | 2 | 0.026831 |
ACADM | chr1 | 76216185 | 76216186 | rs17097429 | + | C | C/T | single | coding-synon | 7 | 1000GENOMES,APPLERA_GI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,TISHKOFF, | 2 | 0.980907 |
ACADM | chr1 | 76227021 | 76227022 | rs1061337 | + | A | A/G | single | coding-synon | 20 | 1000GENOMES,APPLERA_GI,BCMHGSC_JDW,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGBASE,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SEQUENOM,SSMP,TISHKOFF,WIAF-CSNP, | 2 | 0.776811 |
DHCR | chr1 | 55319901 | 55319902 | rs718265 | + | A | A/G | single | coding-synon | 30 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PJP,SC_SNP,SEATTLESEQ,SEQUENOM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.362577 |
DHCR | chr1 | 55352612 | 55352613 | rs79857573 | + | G | A/G | single | coding-synon | 4 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP, | 2 | 0.012799 |
FMO3 | chr1 | 171076934 | 171076935 | rs1800822 | + | C | C/T | single | coding-synon | 19 | 1000GENOMES,AFFY,BGI,BUSHMAN,CANCER-GENOME,CLINSEQ_SNP,EGP_SNPS,GMI,HGBASE,HGSV,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_AB_DME,SEATTLESEQ,SNP500CANCER,SSMP,UWGC, | 2 | 0.897645 |
FMO3 | chr1 | 171083173 | 171083174 | rs909530 | + | C | C/T | single | coding-synon | 27 | 1000GENOMES,ABI,AFFY,BGI,BUSHMAN,CANCER-GENOME,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGBASE,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_AB_DME,SC_JCM,SEATTLESEQ,SNP500CANCER,SSMP,TISHKOFF,TSC-CSHL,UWGC,YUSUKE, | 2 | 0.665013 |
FMO3 | chr1 | 171083224 | 171083225 | rs2066536 | + | C | C/T | single | coding-synon | 7 | BUSHMAN,HGBASE,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SSMP,UWGC, | 2 | 0.957447 |
FMO3 | chr1 | 171086512 | 171086513 | rs28363595 | + | C | C/T | single | coding-synon | 6 | 1000GENOMES,EGP_SNPS,GMI,ILLUMINA,KRIBB_YJKIM,SSMP, | 2 | 0.989931 |
KDM1A | chr1 | 23380258 | 23380259 | rs61757704 | + | G | A/G | single | coding-synon | 8 | 1000GENOMES,CANCER-GENOME,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.036215 |
KDM1A | chr1 | 23399823 | 23399824 | rs75011666 | + | T | C/T | single | coding-synon | 5 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP,SSMP, | 2 | 0.023508 |
MTHFR | chr1 | 11848053 | 11848054 | rs34733339 | - | T | A/G | single | coding-synon,untranslated-3 | 8 | 1000GENOMES,CLINSEQ_SNP,HGSV,ILLUMINA,ILLUMINA-UK,SNP500CANCER,SSMP,TISHKOFF, | 2 | 0.981475 |
MTHFR | chr1 | 11854456 | 11854457 | rs4846051 | + | G | A/G | single | coding-synon | 31 | 1000GENOMES,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SC_SNP,SEATTLESEQ,SNP500CANCER,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.896990 |
MTHFR | chr1 | 11854895 | 11854896 | rs2066462 | - | G | C/T | single | coding-synon | 15 | 1000GENOMES,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,HGBASE,IMCJ-GDT,MGC_GENOME_DIFF,NHLBI-ESP,PHARMGKB_PPII,SEATTLESEQ,SEQUENOM,SSMP,TISHKOFF,UWGC, | 2 | 0.910388 |
MTHFR | chr1 | 11863056 | 11863057 | rs2066470 | - | G | C/T | single | coding-synon | 23 | 1000GENOMES,APPLERA_GI,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,GMI,HGBASE,HGSV,ILLUMINA,IMCJ-GDT,KRIBB_YJKIM,KYUGEN,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SEATTLESEQ,SEQUENOM,SNP500CANCER,SSMP,TISHKOFF,UWGC, | 2 | 0.910381 |
PPOX | chr1 | 161143800 | 161143801 | rs3813619 | + | G | A/G | single | coding-synon | 13 | 1000GENOMES,BL,CLINSEQ_SNP,CORNELL,GMI,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF,YUSUKE, | 2 | 0.053817 |
PPOX | chr1 | 161145004 | 161145005 | rs3813620 | + | C | C/T | single | coding-synon | 18 | 1000GENOMES,AFFY,APPLERA_GI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,YUSUKE, | 2 | 0.918143 |
ACP2 | chr11 | 47267078 | 47267079 | rs10838677 | + | C | C/T | single | coding-synon,untranslated-3 | 12 | 1000GENOMES,APPLERA_GI,CGAP-GAI,CLINSEQ_SNP,ILLUMINA,ILLUMINA-UK,MGC_GENOME_DIFF,NHLBI-ESP,SC_SNP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.969734 |
NDUFV1 | chr11 | 67377889 | 67377890 | rs10896187 | + | C | C/G | single | coding-synon,near-gene-3 | 7 | 1000GENOMES,BUSHMAN,CGAP-GAI,ILLUMINA,NHLBI-ESP,SC_SNP,TISHKOFF, | 2 | 0.950810 |
NDUFV1 | chr11 | 67379015 | 67379016 | rs11227859 | + | T | C/T | single | coding-synon | 7 | 1000GENOMES,BUSHMAN,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SC_SNP,TISHKOFF, | 2 | 0.056331 |
ACADS | chr12 | 121174898 | 121174899 | rs3914 | + | T | C/T | single | coding-synon | 26 | 1000GENOMES,ABI,APPLERA_GI,BGI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,MGC_GENOME_DIFF,MMF,NHLBI-ESP,PJP,SC_JCM,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.523839 |
ACADS | chr12 | 121174937 | 121174938 | rs76543640 | + | C | C/T | single | coding-synon | 7 | 1000GENOMES,BGI,BUSHMAN,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SSMP, | 2 | 0.965202 |
ACADS | chr12 | 121175220 | 121175221 | rs2239686 | + | G | A/C/G/T | single | coding-synon | 9 | 1000GENOMES,CGAP-GAI,GMI,ILLUMINA,IMCJ-GDT,NHLBI-ESP,SEATTLESEQ,SSMP,YUSUKE, | 2 | 0.010371 |
ACADS | chr12 | 121176678 | 121176679 | rs3915 | - | C | A/C/G/T | single | coding-synon | 27 | 1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BGI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,ILLUMINA,ILLUMINA-UK,IMCJ-GDT,KWOK,MGC_GENOME_DIFF,MMF,NHLBI-ESP,PJP,SC_JCM,SC_SNP,SEATTLESEQ,SSMP,TISHKOFF,WIAF-CSNP,WI_SSAHASNP,YUSUKE, | 3 | 0.589408 |
COQ6 | chr14 | 74424937 | 74424938 | rs3180946 | - | T | A/G | single | coding-synon | 22 | 1000GENOMES,ABI,APPLERA_GI,BCMHGSC_JDW,BCM_SSAHASNP,CGAP-GAI,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SI_EXO,SSMP,TISHKOFF,YUSUKE, | 2 | 0.736661 |
L2HGDH | chr14 | 50735946 | 50735947 | rs72683923 | + | T | C/T | single | coding-synon | 4 | 1000GENOMES,CLINSEQ_SNP,ILLUMINA,NHLBI-ESP, | 2 | 0.010123 |
L2HGDH | chr14 | 50769716 | 50769717 | rs2297995 | + | G | A/G | single | coding-synon | 28 | 1000GENOMES,ABI,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.581054 |
DUOX2 | chr15 | 45386805 | 45386806 | rs56323146 | + | G | C/G | single | coding-synon | 13 | 1000GENOMES,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.079402 |
DUOX2 | chr15 | 45388139 | 45388140 | rs61730032 | + | G | A/G | single | coding-synon | 12 | 1000GENOMES,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,GMI,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.032011 |
DUOX2 | chr15 | 45392013 | 45392014 | rs79480907 | + | C | C/T | single | coding-synon | 6 | 1000GENOMES,BUSHMAN,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.984407 |
DUOX2 | chr15 | 45396503 | 45396504 | rs61753432 | + | C | C/T | single | coding-synon | 1 | CORNELL, | 2 | 0.982143 |
DUOX2 | chr15 | 45397888 | 45397889 | rs73406334 | + | C | C/T | single | coding-synon | 11 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF, | 2 | 0.923109 |
DUOX2 | chr15 | 45398508 | 45398509 | rs58361817 | + | G | A/G | single | coding-synon | 8 | 1000GENOMES,CLINSEQ_SNP,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,TISHKOFF, | 2 | 0.060006 |
DUOX2 | chr15 | 45400357 | 45400358 | rs269860 | - | C | C/G | single | coding-synon | 23 | 1000GENOMES,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KWOK,NHLBI-ESP,PJP,SC_JCM,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.874303 |
DUOX2 | chr15 | 45401082 | 45401083 | rs78412174 | + | T | C/T | single | coding-synon | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.030452 |
DUOX2 | chr15 | 45403977 | 45403978 | rs76681174 | + | G | A/G | single | coding-synon | 3 | 1000GENOMES,SEATTLESEQ,TISHKOFF, | 2 | 0.010560 |
DUOX2 | chr15 | 45404773 | 45404774 | rs117041393 | + | G | G/T | single | coding-synon,near-gene-5 | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.988251 |
IVD | chr15 | 40705224 | 40705225 | rs2229312 | + | C | C/T | single | coding-synon | 12 | 1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SSMP,TISHKOFF,WICVAR, | 2 | 0.886557 |
GFER | chr16 | 2035867 | 2035868 | rs1046502 | + | C | C/T | single | coding-synon | 20 | 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HGBASE,HGSV,ILLUMINA,ILLUMINA-UK,LEE,NHLBI-ESP,SEATTLESEQ,SEQUENOM,SSMP,TISHKOFF, | 2 | 0.785164 |
GFER | chr16 | 2035998 | 2035999 | rs1802834 | + | C | C/T | single | coding-synon | 10 | 1000GENOMES,ABI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,HGBASE,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,PJP, | 2 | 0.938592 |
ACADVL | chr17 | 7121104 | 7121105 | rs72839706 | + | C | A/C | single | coding-synon,intron,near-gene-5 | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.020017 |
ACADVL | chr17 | 7123972 | 7123973 | rs201085520 | + | T | C/T | single | coding-synon,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.031680 |
ACADVL | chr17 | 7126144 | 7126145 | rs8064573 | + | G | A/G | single | coding-synon,near-gene-3 | 11 | 1000GENOMES,APPLERA_GI,CLINSEQ_SNP,COMPLETE_GENOMICS,GENEREVIEWS,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SEATTLESEQ,TISHKOFF,WI_SSAHASNP, | 2 | 0.027577 |
ACOX1 | chr17 | 73945956 | 73945957 | rs8065946 | + | A | A/G | single | coding-synon | 16 | 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.920004 |
ACOX1 | chr17 | 73949554 | 73949555 | rs79677613 | + | C | C/T | single | coding-synon | 3 | 1000GENOMES,CLINSEQ_SNP,NHLBI-ESP, | 2 | 0.989666 |
ACOX1 | chr17 | 73951975 | 73951976 | rs75808808 | + | C | C/T | single | coding-synon | 4 | 1000GENOMES,BUSHMAN,ILLUMINA,NHLBI-ESP, | 2 | 0.974302 |
FDXR | chr17 | 72859058 | 72859059 | rs34435361 | - | T | A/G | single | coding-synon,ncRNA | 5 | 1000GENOMES,EGP_SNPS,ILLUMINA,NHLBI-ESP,SEATTLESEQ, | 2 | 0.982341 |
FDXR | chr17 | 72860099 | 72860100 | rs33991203 | - | G | C/T | single | coding-synon,ncRNA | 6 | 1000GENOMES,APPLERA_GI,BUSHMAN,EGP_SNPS,NHLBI-ESP,TISHKOFF, | 2 | 0.987514 |
FDXR | chr17 | 72860653 | 72860654 | rs2070921 | - | G | C/T | single | coding-synon,ncRNA | 13 | 1000GENOMES,AFFY,CGAP-GAI,CLINSEQ_SNP,EGP_SNPS,GMI,HGBASE,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SEATTLESEQ,SSMP,YUSUKE, | 2 | 0.978895 |