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  • The following term was not found in SNP: <b>M46I<.
1.

rs559 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    21:46129655 (GRCh38)
    21:47549569 (GRCh37)
    Canonical SPDI:
    NC_000021.9:46129654:T:C,NC_000021.9:46129654:T:G
    Gene:
    COL6A2 (Varview)
    Functional Consequence:
    intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.058149/8608 (ALFA)
    C=0.028333/17 (NorthernSweden)
    C=0.036072/36 (GoNL)
    C=0.040625/182 (Estonian)
    C=0.044768/166 (TWINSUK)
    C=0.04904/189 (ALSPAC)
    C=0.05/2 (GENOME_DK)
    C=0.125521/17584 (GnomAD)
    C=0.134259/29 (Qatari)
    C=0.199681/1000 (1000Genomes)
    C=0.228571/432 (HapMap)
    C=0.3125/65 (Vietnamese)
    C=0.415208/759 (Korea1K)
    C=0.434426/1272 (KOREAN)
    T=0.442308/69 (SGDP_PRJ)
    T=0.454545/10 (Siberian)
    C=0.465449/7800 (TOMMO)
    HGVS:
    2.

    rs576 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      3:69967316 (GRCh38)
      3:70016467 (GRCh37)
      Canonical SPDI:
      NC_000003.12:69967315:C:G,NC_000003.12:69967315:C:T
      Gene:
      MITF (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,3_prime_UTR_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.292864/43386 (ALFA)
      T=0.166667/8 (PRJEB36033)
      T=0.225/9 (GENOME_DK)
      T=0.230337/123 (MGP)
      T=0.245283/52 (Vietnamese)
      T=0.249499/249 (GoNL)
      T=0.259259/56 (Qatari)
      T=0.278857/1034 (TWINSUK)
      T=0.291386/1123 (ALSPAC)
      T=0.325/1456 (Estonian)
      T=0.326667/196 (NorthernSweden)
      T=0.341054/1708 (1000Genomes)
      T=0.34152/90397 (TOPMED)
      T=0.345524/633 (Korea1K)
      T=0.35148/665 (HapMap)
      T=0.351536/1030 (KOREAN)
      T=0.360263/6038 (TOMMO)
      C=0.368421/14 (Siberian)
      C=0.393855/141 (SGDP_PRJ)
      HGVS:
      NC_000003.12:g.69967316C>G, NC_000003.12:g.69967316C>T, NC_000003.11:g.70016467C>G, NC_000003.11:g.70016467C>T, NG_011631.1:g.232835C>G, NG_011631.1:g.232835C>T, NM_000248.4:c.*2068C>G, NM_000248.4:c.*2068C>T, NM_000248.3:c.*2068C>G, NM_000248.3:c.*2068C>T, NM_198159.3:c.*2068C>G, NM_198159.3:c.*2068C>T, NM_198159.2:c.*2068C>G, NM_198159.2:c.*2068C>T, NM_006722.3:c.*2068C>G, NM_006722.3:c.*2068C>T, NM_006722.2:c.*2068C>G, NM_006722.2:c.*2068C>T, NM_198177.3:c.*2068C>G, NM_198177.3:c.*2068C>T, NM_198177.2:c.*2068C>G, NM_198177.2:c.*2068C>T, NM_198158.3:c.*2068C>G, NM_198158.3:c.*2068C>T, NM_198158.2:c.*2068C>G, NM_198158.2:c.*2068C>T, NM_198178.3:c.*2068C>G, NM_198178.3:c.*2068C>T, NM_198178.2:c.*2068C>G, NM_198178.2:c.*2068C>T, NM_001354607.2:c.*2068C>G, NM_001354607.2:c.*2068C>T, NM_001354607.1:c.*2068C>G, NM_001354607.1:c.*2068C>T, NM_001354608.2:c.*2068C>G, NM_001354608.2:c.*2068C>T, NM_001354608.1:c.*2068C>G, NM_001354608.1:c.*2068C>T, NM_001354604.2:c.*2068C>G, NM_001354604.2:c.*2068C>T, NM_001354604.1:c.*2068C>G, NM_001354604.1:c.*2068C>T, NM_001354605.2:c.*2068C>G, NM_001354605.2:c.*2068C>T, NM_001354605.1:c.*2068C>G, NM_001354605.1:c.*2068C>T, NM_001354606.2:c.*2068C>G, NM_001354606.2:c.*2068C>T, NM_001354606.1:c.*2068C>G, NM_001354606.1:c.*2068C>T, NM_001184967.2:c.*2068C>G, NM_001184967.2:c.*2068C>T, NM_001184967.1:c.*2068C>G, NM_001184967.1:c.*2068C>T
      3.

      rs696 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        14:35401887 (GRCh38)
        14:35871093 (GRCh37)
        Canonical SPDI:
        NC_000014.9:35401886:C:G,NC_000014.9:35401886:C:T
        Gene:
        NFKBIA (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.392834/32540 (ALFA)
        T=0.309248/5183 (TOMMO)
        T=0.346653/1336 (ALSPAC)
        T=0.349488/1024 (KOREAN)
        T=0.35/14 (GENOME_DK)
        C=0.354749/127 (SGDP_PRJ)
        T=0.357533/655 (Korea1K)
        T=0.363269/1347 (TWINSUK)
        T=0.365731/365 (GoNL)
        T=0.365885/281 (PRJEB37584)
        T=0.405134/1815 (Estonian)
        C=0.423077/11 (Siberian)
        T=0.423333/254 (NorthernSweden)
        T=0.426442/887 (HGDP_Stanford)
        T=0.433333/26 (PRJEB36033)
        T=0.441452/116848 (TOPMED)
        T=0.446532/62519 (GnomAD)
        T=0.455671/2282 (1000Genomes)
        T=0.475661/899 (HapMap)
        C=0.49537/107 (Vietnamese)
        C=0.5/108 (Qatari)
        HGVS:
        4.

        rs1230 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          16:89738447 (GRCh38)
          16:89804855 (GRCh37)
          Canonical SPDI:
          NC_000016.10:89738446:C:G,NC_000016.10:89738446:C:T
          Gene:
          FANCA (Varview), ZNF276 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.410049/33478 (ALFA)
          C=0.018692/4 (Vietnamese)
          C=0.020819/61 (KOREAN)
          C=0.022926/42 (Korea1K)
          C=0.026074/437 (TOMMO)
          C=0.16886/77 (SGDP_PRJ)
          T=0.190476/8 (PRJEB36033)
          C=0.214286/9 (Siberian)
          C=0.297985/562 (HapMap)
          C=0.302316/1514 (1000Genomes)
          T=0.361111/78 (Qatari)
          C=0.377885/786 (HGDP_Stanford)
          T=0.387776/387 (GoNL)
          T=0.4/16 (GENOME_DK)
          T=0.403217/1554 (ALSPAC)
          T=0.41942/1879 (Estonian)
          T=0.423333/254 (NorthernSweden)
          T=0.430151/1595 (TWINSUK)
          C=0.44755/118462 (TOPMED)
          HGVS:
          NC_000016.10:g.89738447C>G, NC_000016.10:g.89738447C>T, NC_000016.9:g.89804855C>G, NC_000016.9:g.89804855C>T, NG_011706.1:g.83211G>C, NG_011706.1:g.83211G>A, NM_000135.4:c.*154G>C, NM_000135.4:c.*154G>A, NM_000135.3:c.*154G>C, NM_000135.3:c.*154G>A, NM_000135.2:c.*154G>C, NM_000135.2:c.*154G>A, NM_001286167.3:c.*251G>C, NM_001286167.3:c.*251G>A, NM_001286167.2:c.*251G>C, NM_001286167.2:c.*251G>A, NM_152287.4:c.*201C>G, NM_152287.4:c.*201C>T, NM_152287.3:c.*201C>G, NM_152287.3:c.*201C>T, XM_005256324.3:c.*201C>G, XM_005256324.3:c.*201C>T, XM_005256324.1:c.*201C>G, XM_005256324.1:c.*201C>T, XM_005256328.3:c.*201C>G, XM_005256328.3:c.*201C>T, XM_005256328.1:c.*201C>G, XM_005256328.1:c.*201C>T, NR_110122.2:n.2201C>G, NR_110122.2:n.2201C>T, NR_110122.1:n.2218C>G, NR_110122.1:n.2218C>T, NM_001113525.2:c.*201C>G, NM_001113525.2:c.*201C>T, NM_001113525.1:c.*201C>G, NM_001113525.1:c.*201C>T, NR_110129.2:n.2118C>G, NR_110129.2:n.2118C>T, NR_110129.1:n.2113C>G, NR_110129.1:n.2113C>T, NR_110126.2:n.2084C>G, NR_110126.2:n.2084C>T, NR_110126.1:n.2101C>G, NR_110126.1:n.2101C>T, NR_110128.2:n.2024C>G, NR_110128.2:n.2024C>T, NR_110128.1:n.2024C>G, NR_110128.1:n.2024C>T, XR_933484.2:n.2212C>G, XR_933484.2:n.2212C>T, XR_429740.2:n.2228C>G, XR_429740.2:n.2228C>T, XR_243507.2:n.2124C>G, XR_243507.2:n.2124C>T, XM_017023890.1:c.*201C>G, XM_017023890.1:c.*201C>T, XR_001752030.1:n.3265C>G, XR_001752030.1:n.3265C>T, XR_002957853.1:n.2625C>G, XR_002957853.1:n.2625C>T, XR_001752031.1:n.2209C>G, XR_001752031.1:n.2209C>T
          5.

          rs1303 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            14:94378506 (GRCh38)
            14:94844843 (GRCh37)
            Canonical SPDI:
            NC_000014.9:94378505:T:C,NC_000014.9:94378505:T:G
            Gene:
            SERPINA1 (Varview)
            Functional Consequence:
            synonymous_variant,missense_variant,coding_sequence_variant
            Clinical significance:
            other,benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.247313/72310 (ALFA)
            G=0.2/8 (GENOME_DK)
            G=0.212276/16704 (PAGE_STUDY)
            G=0.21723/411 (HapMap)
            G=0.217862/30495 (GnomAD)
            G=0.221795/173 (PRJEB37584)
            G=0.222592/58918 (TOPMED)
            G=0.237946/1066 (Estonian)
            G=0.24198/709 (KOREAN)
            G=0.243421/74 (FINRISK)
            G=0.24987/963 (ALSPAC)
            G=0.251079/931 (TWINSUK)
            G=0.259519/259 (GoNL)
            G=0.268333/161 (NorthernSweden)
            G=0.274731/33348 (ExAC)
            G=0.277385/69749 (GnomAD_exomes)
            G=0.280351/1404 (1000Genomes)
            G=0.286217/4797 (TOMMO)
            G=0.305662/637 (HGDP_Stanford)
            G=0.314607/168 (MGP)
            G=0.347222/75 (Qatari)
            G=0.362745/222 (Vietnamese)
            T=0.363636/8 (Siberian)
            T=0.367857/103 (SGDP_PRJ)
            G=0.44/22 (PRJEB36033)
            HGVS:
            NC_000014.9:g.94378506T>C, NC_000014.9:g.94378506T>G, NC_000014.8:g.94844843T>C, NC_000014.8:g.94844843T>G, NG_008290.1:g.17187A>G, NG_008290.1:g.17187A>C, NM_000295.5:c.1200A>G, NM_000295.5:c.1200A>C, NM_000295.4:c.1200A>G, NM_000295.4:c.1200A>C, NM_001002236.3:c.1200A>G, NM_001002236.3:c.1200A>C, NM_001002236.2:c.1200A>G, NM_001002236.2:c.1200A>C, NM_001002235.3:c.1200A>G, NM_001002235.3:c.1200A>C, NM_001002235.2:c.1200A>G, NM_001002235.2:c.1200A>C, NM_001127701.2:c.1200A>G, NM_001127701.2:c.1200A>C, NM_001127701.1:c.1200A>G, NM_001127701.1:c.1200A>C, NM_001127705.2:c.1200A>G, NM_001127705.2:c.1200A>C, NM_001127705.1:c.1200A>G, NM_001127705.1:c.1200A>C, NM_001127703.2:c.1200A>G, NM_001127703.2:c.1200A>C, NM_001127703.1:c.1200A>G, NM_001127703.1:c.1200A>C, NM_001127704.2:c.1200A>G, NM_001127704.2:c.1200A>C, NM_001127704.1:c.1200A>G, NM_001127704.1:c.1200A>C, NM_001127702.2:c.1200A>G, NM_001127702.2:c.1200A>C, NM_001127702.1:c.1200A>G, NM_001127702.1:c.1200A>C, NM_001127706.2:c.1200A>G, NM_001127706.2:c.1200A>C, NM_001127706.1:c.1200A>G, NM_001127706.1:c.1200A>C, NM_001127707.2:c.1200A>G, NM_001127707.2:c.1200A>C, NM_001127707.1:c.1200A>G, NM_001127707.1:c.1200A>C, NM_001127700.2:c.1200A>G, NM_001127700.2:c.1200A>C, NM_001127700.1:c.1200A>G, NM_001127700.1:c.1200A>C, NT_187601.1:g.1495078T>C, NT_187601.1:g.1495078T>G, XM_017021370.1:c.1200A>G, XM_017021370.1:c.1200A>C, NP_000286.3:p.Glu400Asp, NP_001002236.1:p.Glu400Asp, NP_001002235.1:p.Glu400Asp, NP_001121173.1:p.Glu400Asp, NP_001121177.1:p.Glu400Asp, NP_001121175.1:p.Glu400Asp, NP_001121176.1:p.Glu400Asp, NP_001121174.1:p.Glu400Asp, NP_001121178.1:p.Glu400Asp, NP_001121179.1:p.Glu400Asp, NP_001121172.1:p.Glu400Asp, XP_016876859.1:p.Glu400Asp
            6.

            rs1384 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              12:69354054 (GRCh38)
              12:69747834 (GRCh37)
              Canonical SPDI:
              NC_000012.12:69354053:C:G,NC_000012.12:69354053:C:T
              Gene:
              LYZ (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.479098/69588 (ALFA)
              C=0.267857/105 (SGDP_PRJ)
              C=0.296943/544 (Korea1K)
              C=0.303413/889 (KOREAN)
              C=0.303738/65 (Vietnamese)
              C=0.323449/5421 (TOMMO)
              C=0.347826/16 (Siberian)
              T=0.375/15 (GENOME_DK)
              T=0.396186/748 (HapMap)
              T=0.400163/55978 (GnomAD)
              T=0.406358/107559 (TOPMED)
              C=0.455804/2042 (Estonian)
              T=0.456667/274 (NorthernSweden)
              T=0.458333/99 (Qatari)
              T=0.46865/2347 (1000Genomes)
              T=0.481964/481 (GoNL)
              C=0.492988/1828 (TWINSUK)
              T=0.496367/1913 (ALSPAC)
              HGVS:
              7.

              rs1510 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                6:131893782 (GRCh38)
                6:132214922 (GRCh37)
                Canonical SPDI:
                NC_000006.12:131893781:C:G,NC_000006.12:131893781:C:T
                Gene:
                ENPP1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Clinical significance:
                benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.123077/2304 (ALFA)
                G=0.000342/1 (KOREAN)
                G=0.052117/261 (1000Genomes)
                G=0.054878/18 (HapMap)
                G=0.077109/20410 (TOPMED)
                G=0.083333/18 (Qatari)
                G=0.09612/109 (Daghestan)
                G=0.098572/13775 (GnomAD)
                G=0.119741/444 (TWINSUK)
                G=0.124805/481 (ALSPAC)
                G=0.165331/165 (GoNL)
                G=0.195/117 (NorthernSweden)
                G=0.21875/980 (Estonian)
                G=0.25/10 (GENOME_DK)
                C=0.416667/5 (Siberian)
                C=0.484375/31 (SGDP_PRJ)
                HGVS:
                8.

                rs1590 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  9:99153883 (GRCh38)
                  9:101916165 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:99153882:T:C,NC_000009.12:99153882:T:G
                  Gene:
                  TGFBR1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,genic_downstream_transcript_variant
                  Clinical significance:
                  benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.246668/21620 (ALFA)
                  G=0.2/18 (PRJEB36033)
                  G=0.249499/249 (GoNL)
                  G=0.25463/55 (Qatari)
                  G=0.257914/994 (ALSPAC)
                  G=0.26/156 (NorthernSweden)
                  G=0.26753/992 (TWINSUK)
                  G=0.280357/1256 (Estonian)
                  G=0.28669/75884 (TOPMED)
                  G=0.3/12 (GENOME_DK)
                  G=0.329872/1652 (1000Genomes)
                  G=0.340909/645 (HapMap)
                  G=0.375/81 (Vietnamese)
                  T=0.392216/131 (SGDP_PRJ)
                  T=0.454545/10 (Siberian)
                  G=0.460859/365 (PRJEB37584)
                  T=0.473253/867 (Korea1K)
                  T=0.479863/1406 (KOREAN)
                  HGVS:
                  9.

                  rs1962 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    20:23045859 (GRCh38)
                    20:23026496 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:23045858:C:G,NC_000020.11:23045858:C:T
                    Gene:
                    THBD (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.238937/35195 (ALFA)
                    C=0.138258/73 (SGDP_PRJ)
                    C=0.175/7 (GENOME_DK)
                    C=0.207279/3474 (TOMMO)
                    C=0.208333/45 (Qatari)
                    C=0.211392/167 (PRJEB37584)
                    C=0.218993/844 (ALSPAC)
                    C=0.223799/410 (Korea1K)
                    C=0.224042/1122 (1000Genomes)
                    C=0.228425/847 (TWINSUK)
                    C=0.228858/433 (HapMap)
                    C=0.22901/671 (KOREAN)
                    C=0.232143/13 (Siberian)
                    C=0.235491/1055 (Estonian)
                    C=0.248097/34740 (GnomAD)
                    C=0.254388/67334 (TOPMED)
                    C=0.256513/256 (GoNL)
                    C=0.264151/56 (Vietnamese)
                    C=0.293333/176 (NorthernSweden)
                    HGVS:
                    11.

                    rs2775 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      5:126544897 (GRCh38)
                      5:125880589 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:126544896:T:C,NC_000005.10:126544896:T:G
                      Gene:
                      ALDH7A1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Clinical significance:
                      benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.45964/25157 (ALFA)
                      C=0.34434/73 (Vietnamese)
                      C=0.360623/1806 (1000Genomes)
                      T=0.364943/127 (SGDP_PRJ)
                      C=0.369565/289 (PRJEB37584)
                      T=0.375/15 (Siberian)
                      C=0.379522/1112 (KOREAN)
                      C=0.406128/107498 (TOPMED)
                      C=0.416667/90 (Qatari)
                      C=0.417603/223 (MGP)
                      C=0.422848/59159 (GnomAD)
                      C=0.423313/138 (HapMap)
                      C=0.434297/1983 (GoESP)
                      C=0.462053/7744 (TOMMO)
                      C=0.475/19 (GENOME_DK)
                      C=0.475/285 (NorthernSweden)
                      C=0.475869/1834 (ALSPAC)
                      C=0.480313/1781 (TWINSUK)
                      C=0.483482/2166 (Estonian)
                      C=0.490982/490 (GoNL)
                      HGVS:
                      12.

                      rs2871 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        4:148078873 (GRCh38)
                        4:149000024 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:148078872:C:G,NC_000004.12:148078872:C:T
                        Gene:
                        NR3C2 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                        Clinical significance:
                        benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.303844/75504 (ALFA)
                        C=0.154206/33 (Vietnamese)
                        C=0.174821/2930 (TOMMO)
                        C=0.175/7 (GENOME_DK)
                        C=0.182353/93 (SGDP_PRJ)
                        C=0.184478/145 (PRJEB37584)
                        C=0.201419/369 (Korea1K)
                        C=0.201706/591 (KOREAN)
                        C=0.273333/164 (NorthernSweden)
                        C=0.28/14 (Siberian)
                        C=0.283746/1421 (1000Genomes)
                        C=0.286469/542 (HapMap)
                        C=0.293558/22867 (PAGE_STUDY)
                        C=0.296117/1098 (TWINSUK)
                        C=0.297613/1147 (ALSPAC)
                        C=0.305556/66 (Qatari)
                        C=0.31699/83904 (TOPMED)
                        C=0.320641/320 (GoNL)
                        C=0.328582/46031 (GnomAD)
                        C=0.349554/1566 (Estonian)
                        T=0.486891/260 (MGP)
                        HGVS:
                        13.

                        rs3019 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          9:116699833 (GRCh38)
                          9:119462112 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:116699832:C:G,NC_000009.12:116699832:C:T
                          Gene:
                          TRIM32 (Varview), ASTN2 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                          Clinical significance:
                          benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.079989/11779 (ALFA)
                          C=0.013889/3 (Qatari)
                          C=0.025655/47 (Korea1K)
                          C=0.027327/458 (TOMMO)
                          C=0.030034/88 (KOREAN)
                          C=0.037736/8 (Vietnamese)
                          C=0.042964/69 (HapMap)
                          C=0.05/2 (GENOME_DK)
                          C=0.050919/255 (1000Genomes)
                          C=0.053571/3 (Siberian)
                          C=0.055957/31 (SGDP_PRJ)
                          C=0.060356/8465 (GnomAD)
                          C=0.061525/16285 (TOPMED)
                          C=0.068304/306 (Estonian)
                          C=0.074148/74 (GoNL)
                          C=0.093333/56 (NorthernSweden)
                          C=0.093851/348 (TWINSUK)
                          C=0.094447/364 (ALSPAC)
                          C=0.344569/184 (MGP)
                          HGVS:
                          14.

                          rs3361 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            X:31120472 (GRCh38)
                            X:31138589 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:31120471:T:C,NC_000023.11:31120471:T:G
                            Gene:
                            DMD (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant
                            Clinical significance:
                            benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.243507/39848 (ALFA)
                            C=0./0 (PRJEB36033)
                            T=0.17094/40 (SGDP_PRJ)
                            T=0.181818/4 (Siberian)
                            C=0.232201/861 (TWINSUK)
                            C=0.239529/692 (ALSPAC)
                            C=0.255732/290 (Daghestan)
                            C=0.259259/28 (Qatari)
                            C=0.275/11 (GENOME_DK)
                            C=0.288396/845 (KOREAN)
                            C=0.304808/634 (HGDP_Stanford)
                            C=0.321187/4125 (TOMMO)
                            C=0.34706/35802 (GnomAD)
                            C=0.354167/17 (Vietnamese)
                            C=0.354172/1337 (1000Genomes)
                            C=0.354543/93844 (TOPMED)
                            C=0.385316/719 (HapMap)
                            HGVS:
                            NC_000023.11:g.31120472T>C, NC_000023.11:g.31120472T>G, NC_000023.10:g.31138589T>C, NC_000023.10:g.31138589T>G, NG_012232.1:g.2224138A>G, NG_012232.1:g.2224138A>C, NM_000109.4:c.*1447A>G, NM_000109.4:c.*1447A>C, NM_000109.3:c.*1447A>G, NM_000109.3:c.*1447A>C, NM_004012.4:c.*1447A>G, NM_004012.4:c.*1447A>C, NM_004012.3:c.*1447A>G, NM_004012.3:c.*1447A>C, NM_004011.4:c.*1447A>G, NM_004011.4:c.*1447A>C, NM_004011.3:c.*1447A>G, NM_004011.3:c.*1447A>C, NM_004020.4:c.*1447A>G, NM_004020.4:c.*1447A>C, NM_004020.3:c.*1447A>G, NM_004020.3:c.*1447A>C, NM_004010.3:c.*1447A>G, NM_004010.3:c.*1447A>C, NM_004009.3:c.*1447A>G, NM_004009.3:c.*1447A>C, NM_004006.3:c.*1447A>G, NM_004006.3:c.*1447A>C, NM_004006.2:c.*1447A>G, NM_004006.2:c.*1447A>C, NM_004013.3:c.*1447A>G, NM_004013.3:c.*1447A>C, NM_004013.2:c.*1447A>G, NM_004013.2:c.*1447A>C, NM_004021.3:c.*1361A>G, NM_004021.3:c.*1361A>C, NM_004021.2:c.*1361A>G, NM_004021.2:c.*1361A>C, NM_004022.3:c.*1361A>G, NM_004022.3:c.*1361A>C, NM_004022.2:c.*1361A>G, NM_004022.2:c.*1361A>C, NM_004023.3:c.*1361A>G, NM_004023.3:c.*1361A>C, NM_004023.2:c.*1361A>G, NM_004023.2:c.*1361A>C, NM_004014.3:c.*1447A>G, NM_004014.3:c.*1447A>C, NM_004014.2:c.*1447A>G, NM_004014.2:c.*1447A>C, NM_004015.3:c.*1447A>G, NM_004015.3:c.*1447A>C, NM_004015.2:c.*1447A>G, NM_004015.2:c.*1447A>C, NM_004016.3:c.*1361A>G, NM_004016.3:c.*1361A>C, NM_004016.2:c.*1361A>G, NM_004016.2:c.*1361A>C, NM_004017.3:c.*1447A>G, NM_004017.3:c.*1447A>C, NM_004017.2:c.*1447A>G, NM_004017.2:c.*1447A>C, NM_004018.3:c.*1361A>G, NM_004018.3:c.*1361A>C, NM_004018.2:c.*1361A>G, NM_004018.2:c.*1361A>C, XM_006724469.3:c.*1361A>G, XM_006724469.3:c.*1361A>C, XM_006724470.3:c.*1361A>G, XM_006724470.3:c.*1361A>C, XM_006724474.3:c.*1361A>G, XM_006724474.3:c.*1361A>C, XM_006724468.2:c.*1361A>G, XM_006724468.2:c.*1361A>C, XM_006724473.2:c.*1361A>G, XM_006724473.2:c.*1361A>C, NM_004007.2:c.*1447A>G, NM_004007.2:c.*1447A>C, XM_006724475.2:c.*1447A>G, XM_006724475.2:c.*1447A>C, XM_017029328.1:c.*1447A>G, XM_017029328.1:c.*1447A>C, XM_011545467.1:c.*1361A>G, XM_011545467.1:c.*1361A>C, XM_017029331.1:c.*1361A>G, XM_017029331.1:c.*1361A>C
                            15.

                            rs3816 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              10:102067980 (GRCh38)
                              10:103827737 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:102067979:T:C,NC_000010.11:102067979:T:G
                              Gene:
                              HPS6 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Clinical significance:
                              benign
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.196062/48358 (ALFA)
                              G=0.123884/555 (Estonian)
                              G=0.148333/89 (NorthernSweden)
                              G=0.174757/648 (TWINSUK)
                              G=0.181629/700 (ALSPAC)
                              G=0.191383/191 (GoNL)
                              G=0.199126/27900 (GnomAD)
                              G=0.2/8 (GENOME_DK)
                              G=0.21617/57218 (TOPMED)
                              G=0.228464/122 (MGP)
                              G=0.258322/20269 (PAGE_STUDY)
                              G=0.280751/1406 (1000Genomes)
                              G=0.287037/62 (Qatari)
                              G=0.301058/569 (HapMap)
                              T=0.366667/11 (Siberian)
                              T=0.369966/1084 (KOREAN)
                              T=0.378821/694 (Korea1K)
                              T=0.388889/91 (SGDP_PRJ)
                              T=0.406981/6821 (TOMMO)
                              G=0.410377/87 (Vietnamese)
                              T=0.46056/362 (PRJEB37584)
                              HGVS:
                              16.

                              rs3916 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                12:120739469 (GRCh38)
                                12:121177272 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:120739468:G:C,NC_000012.12:120739468:G:T
                                Gene:
                                ACADS (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Clinical significance:
                                benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.200234/4967 (ALFA)
                                C=0.135056/2263 (TOMMO)
                                C=0.141026/44 (HapMap)
                                C=0.144026/88 (Vietnamese)
                                C=0.166484/303 (Korea1K)
                                C=0.171672/503 (KOREAN)
                                C=0.193291/968 (1000Genomes)
                                C=0.19792/2550 (GoESP)
                                C=0.2/8 (GENOME_DK)
                                C=0.214596/30082 (GnomAD)
                                C=0.215887/57143 (TOPMED)
                                C=0.221667/133 (NorthernSweden)
                                C=0.252984/975 (ALSPAC)
                                C=0.25625/1148 (Estonian)
                                C=0.260248/965 (TWINSUK)
                                C=0.287037/62 (Qatari)
                                G=0.352273/93 (SGDP_PRJ)
                                G=0.4/8 (Siberian)
                                HGVS:
                                17.

                                rs3926 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  19:29701831 (GRCh38)
                                  19:30192738 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:29701830:C:G,NC_000019.10:29701830:C:T
                                  Gene:
                                  C19orf12 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,genic_downstream_transcript_variant
                                  Clinical significance:
                                  benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.274415/8216 (ALFA)
                                  C=0.075/3 (GENOME_DK)
                                  C=0.2/120 (NorthernSweden)
                                  C=0.224299/96 (SGDP_PRJ)
                                  C=0.228594/881 (ALSPAC)
                                  C=0.231392/858 (TWINSUK)
                                  C=0.237475/237 (GoNL)
                                  C=0.250893/1124 (Estonian)
                                  C=0.268852/37656 (GnomAD)
                                  C=0.283093/74932 (TOPMED)
                                  T=0.299127/548 (Korea1K)
                                  T=0.299317/877 (KOREAN)
                                  C=0.305556/66 (Qatari)
                                  T=0.319093/5348 (TOMMO)
                                  C=0.323338/3483 (ExAC)
                                  C=0.333333/16 (Siberian)
                                  T=0.334906/71 (Vietnamese)
                                  C=0.357784/46021 (GnomAD_exomes)
                                  C=0.360317/681 (HapMap)
                                  C=0.38139/1910 (1000Genomes)
                                  HGVS:
                                  NC_000019.10:g.29701831C>G, NC_000019.10:g.29701831C>T, NC_000019.9:g.30192738C>G, NC_000019.9:g.30192738C>T, NG_031970.2:g.18959G>C, NG_031970.2:g.18959G>A, NM_031448.6:c.*881G>C, NM_031448.6:c.*881G>A, NM_031448.5:c.*881G>C, NM_031448.5:c.*881G>A, NM_031448.4:c.*881G>C, NM_031448.4:c.*881G>A, NM_001031726.4:c.*881G>C, NM_001031726.4:c.*881G>A, NM_001031726.3:c.*881G>C, NM_001031726.3:c.*881G>A, NM_001282931.3:c.*881G>C, NM_001282931.3:c.*881G>A, NM_001282931.2:c.*881G>C, NM_001282931.2:c.*881G>A, NM_001282931.1:c.*881G>C, NM_001282931.1:c.*881G>A, NM_001256046.3:c.*928G>C, NM_001256046.3:c.*928G>A, NM_001256046.2:c.*928G>C, NM_001256046.2:c.*928G>A, NM_001256046.1:c.*928G>C, NM_001256046.1:c.*928G>A, NM_001282930.3:c.*881G>C, NM_001282930.3:c.*881G>A, NM_001282930.2:c.*881G>C, NM_001282930.2:c.*881G>A, NM_001282930.1:c.*881G>C, NM_001282930.1:c.*881G>A, NM_001256047.2:c.*881G>C, NM_001256047.2:c.*881G>A, NM_001256047.1:c.*881G>C, NM_001256047.1:c.*881G>A, NM_001282929.1:c.*881G>C, NM_001282929.1:c.*881G>A, NR_045692.1:n.1859G>C, NR_045692.1:n.1859G>A, XM_024451735.1:c.*881G>C, XM_024451735.1:c.*881G>A, XM_024451736.1:c.*881G>C, XM_024451736.1:c.*881G>A, NR_045691.1:n.1568G>C, NR_045691.1:n.1568G>A, XM_024451734.1:c.*881G>C, XM_024451734.1:c.*881G>A, NR_045690.1:n.1297G>C, NR_045690.1:n.1297G>A, XM_024451737.1:c.*881G>C, XM_024451737.1:c.*881G>A, XM_024451738.1:c.*881G>C, XM_024451738.1:c.*881G>A
                                  18.

                                  rs4302 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    17:63480461 (GRCh38)
                                    17:61557822 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:63480460:C:G,NC_000017.11:63480460:C:T
                                    Gene:
                                    ACE (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,synonymous_variant
                                    Clinical significance:
                                    benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000556/25 (ALFA)
                                    T=0.001873/1 (MGP)
                                    T=0.002077/522 (GnomAD_exomes)
                                    T=0.00239/290 (ExAC)
                                    T=0.00463/1 (Qatari)
                                    T=0.008385/1176 (GnomAD)
                                    T=0.008387/42 (1000Genomes)
                                    T=0.009346/2 (Vietnamese)
                                    T=0.009765/127 (GoESP)
                                    C=0.5/3 (SGDP_PRJ)
                                    HGVS:
                                    19.

                                    rs4314 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      17:63483943 (GRCh38)
                                      17:61561304 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:63483942:C:G,NC_000017.11:63483942:C:T
                                      Gene:
                                      ACE (Varview)
                                      Functional Consequence:
                                      missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                      Clinical significance:
                                      benign
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000357/31 (ALFA)
                                      T=0./0 (HapMap)
                                      T=0./0 (TWINSUK)
                                      T=0.000259/1 (ALSPAC)
                                      T=0.00067/3 (Estonian)
                                      T=0.000778/195 (GnomAD_exomes)
                                      T=0.000996/118 (ExAC)
                                      T=0.001845/2 (PharmGKB)
                                      T=0.002396/12 (1000Genomes)
                                      T=0.003159/443 (GnomAD)
                                      T=0.003691/48 (GoESP)
                                      HGVS:
                                      20.

                                      rs4525 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        1:169542496 (GRCh38)
                                        1:169511734 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:169542495:T:C,NC_000001.11:169542495:T:G
                                        Gene:
                                        F5 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Clinical significance:
                                        benign,likely-benign
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.266423/74981 (ALFA)
                                        C=0.184211/56 (FINRISK)
                                        C=0.2157/632 (KOREAN)
                                        C=0.217557/171 (PRJEB37584)
                                        C=0.218341/400 (Korea1K)
                                        C=0.225/9 (GENOME_DK)
                                        C=0.232041/3889 (TOMMO)
                                        C=0.236542/145 (Vietnamese)
                                        C=0.240721/454 (HapMap)
                                        C=0.241413/33819 (GnomAD)
                                        C=0.243734/3170 (GoESP)
                                        C=0.252408/19864 (PAGE_STUDY)
                                        C=0.254195/67283 (TOPMED)
                                        C=0.258259/1157 (Estonian)
                                        C=0.26278/1316 (1000Genomes)
                                        C=0.263298/297 (Daghestan)
                                        C=0.264529/264 (GoNL)
                                        C=0.270227/1002 (TWINSUK)
                                        C=0.273774/33223 (ExAC)
                                        C=0.278495/69851 (GnomAD_exomes)
                                        C=0.280747/1082 (ALSPAC)
                                        C=0.284069/592 (HGDP_Stanford)
                                        C=0.292683/24 (PRJEB36033)
                                        C=0.325/195 (NorthernSweden)
                                        C=0.331461/177 (MGP)
                                        C=0.333333/72 (Qatari)
                                        T=0.412/103 (SGDP_PRJ)
                                        C=0.439128/1450 (PRJEB37766)
                                        T=0.466667/14 (Siberian)
                                        HGVS:

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