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Items: 1 to 20 of 47250

1.

rs268 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    8:19956018 (GRCh38)
    8:19813529 (GRCh37)
    Canonical SPDI:
    NC_000008.11:19956017:A:G
    Gene:
    LPL (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Clinical significance:
    pathogenic,uncertain-significance,risk-factor
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.017301/1584 (ALFA)
    G=0.004968/391 (PAGE_STUDY)
    G=0.005192/26 (1000Genomes)
    G=0.00565/4 (HapMap)
    G=0.01091/1370 (TOPMED)
    G=0.01278/3212 (GnomAD_exomes)
    G=0.013109/7 (MGP)
    G=0.013158/4 (FINRISK)
    G=0.013363/1622 (ExAC)
    G=0.014485/455 (GnomAD)
    G=0.018682/72 (ALSPAC)
    G=0.019957/74 (TWINSUK)
    G=0.023884/107 (Estonian)
    G=0.028333/17 (NorthernSweden)
    G=0.03006/30 (GoNL)
    G=0.05/2 (GENOME_DK)
    A=0.5/1 (SGDP_PRJ)
    HGVS:
    2.

    rs334 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C,G [Show Flanks]
      Chromosome:
      11:5227002 (GRCh38)
      11:5248232 (GRCh37)
      Canonical SPDI:
      NC_000011.10:5227001:T:A,NC_000011.10:5227001:T:C,NC_000011.10:5227001:T:G
      Gene:
      HBB (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Clinical significance:
      protective,pathogenic,other
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000716/8 (ALFA)
      G=0.000546/1 (Korea1K)
      G=0.001711/5 (KOREAN)
      A=0.00348/874 (GnomAD_exomes)
      A=0.004384/532 (ExAC)
      A=0.011529/362 (GnomAD)
      A=0.018519/4 (Qatari)
      A=0.027356/137 (1000Genomes)
      A=0.040373/13 (HapMap)
      T=0.5/5 (SGDP_PRJ)
      HGVS:
      3.

      4.

      rs5036 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:44261577 (GRCh38)
        17:42338945 (GRCh37)
        Canonical SPDI:
        NC_000017.11:44261576:T:C
        Gene:
        SLC4A1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,5_prime_UTR_variant
        Clinical significance:
        pathogenic,benign,likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.029744/4240 (ALFA)
        C=0.003289/1 (FINRISK)
        C=0.011667/7 (NorthernSweden)
        C=0.016032/16 (GoNL)
        C=0.01753/65 (TWINSUK)
        C=0.01808/81 (Estonian)
        C=0.021796/84 (ALSPAC)
        C=0.022472/12 (MGP)
        C=0.025/1 (GENOME_DK)
        C=0.042433/5151 (ExAC)
        C=0.044606/11216 (GnomAD_exomes)
        C=0.047384/1487 (GnomAD)
        C=0.055285/6942 (TOPMED)
        C=0.060185/13 (Qatari)
        C=0.063898/320 (1000Genomes)
        C=0.096981/7632 (PAGE_STUDY)
        C=0.105895/194 (Korea1K)
        C=0.114676/336 (KOREAN)
        T=0.478261/44 (SGDP_PRJ)
        T=0.5/2 (Siberian)
        HGVS:
        5.

        rs5110 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          11:116820918 (GRCh38)
          11:116691634 (GRCh37)
          Canonical SPDI:
          NC_000011.10:116820917:C:A
          Gene:
          APOA4 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Clinical significance:
          pathogenic
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.074393/10641 (ALFA)
          A=0.023762/119 (1000Genomes)
          A=0.029188/2297 (PAGE_STUDY)
          A=0.033691/44 (HapMap)
          A=0.047948/1505 (GnomAD)
          A=0.04886/60 (PharmGKB)
          A=0.052285/13128 (GnomAD_exomes)
          A=0.05244/6342 (ExAC)
          A=0.053103/6668 (TOPMED)
          A=0.074906/40 (MGP)
          A=0.087648/325 (TWINSUK)
          A=0.088176/88 (GoNL)
          A=0.094447/364 (ALSPAC)
          A=0.096667/58 (NorthernSweden)
          A=0.1/4 (GENOME_DK)
          C=0.5/11 (SGDP_PRJ)
          C=0.5/2 (Siberian)
          HGVS:
          6.

          rs5122 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:44948823 (GRCh38)
            19:45452080 (GRCh37)
            Canonical SPDI:
            NC_000019.10:44948822:G:A
            Gene:
            APOC2 (Varview), APOC4-APOC2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Clinical significance:
            uncertain-significance,pathogenic
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000177/17 (ALFA)
            A=0.000482/121 (GnomAD_exomes)
            A=0.000588/71 (ExAC)
            A=0.001198/6 (1000Genomes)
            A=0.002295/72 (GnomAD)
            A=0.002349/295 (TOPMED)
            A=0.00463/1 (Qatari)
            A=0.005639/3 (HapMap)
            HGVS:
            7.

            rs5126 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              19:44949172 (GRCh38)
              19:45452429 (GRCh37)
              Canonical SPDI:
              NC_000019.10:44949171:A:C
              Gene:
              APOC2 (Varview), APOC4-APOC2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Clinical significance:
              benign,pathogenic
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.00028/26 (ALFA)
              C=0.001828/459 (GnomAD_exomes)
              C=0.002375/276 (ExAC)
              C=0.007013/220 (GnomAD)
              C=0.007788/39 (1000Genomes)
              C=0.008211/1031 (TOPMED)
              C=0.009259/2 (Qatari)
              C=0.012185/959 (PAGE_STUDY)
              C=0.021341/7 (HapMap)
              A=0.5/1 (SGDP_PRJ)
              HGVS:
              8.

              rs5736 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:23189600 (GRCh38)
                16:23200921 (GRCh37)
                Canonical SPDI:
                NC_000016.10:23189599:G:A
                Gene:
                SCNN1G (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Clinical significance:
                benign-likely-benign,benign,likely-benign,pathogenic
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.002718/375 (ALFA)
                A=0.000223/1 (Estonian)
                A=0.000809/3 (TWINSUK)
                A=0.001002/1 (GoNL)
                A=0.001038/4 (ALSPAC)
                A=0.004088/1028 (GnomAD_exomes)
                A=0.004464/5 (Daghestan)
                A=0.004753/577 (ExAC)
                A=0.006494/4 (Vietnamese)
                A=0.008214/24 (KOREAN)
                A=0.009259/2 (Qatari)
                A=0.010954/344 (GnomAD)
                A=0.013172/1654 (TOPMED)
                A=0.014577/73 (1000Genomes)
                A=0.014738/27 (Korea1K)
                A=0.019378/1525 (PAGE_STUDY)
                A=0.044242/63 (HapMap)
                G=0.5/3 (SGDP_PRJ)
                HGVS:
                9.

                rs5738 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:23189642 (GRCh38)
                  16:23200963 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:23189641:G:A
                  Gene:
                  SCNN1G (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Clinical significance:
                  benign-likely-benign,benign,likely-benign,pathogenic
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.00914/1289 (ALFA)
                  A=0.002596/13 (1000Genomes)
                  A=0.003348/15 (Estonian)
                  A=0.004008/4 (GoNL)
                  A=0.004396/346 (PAGE_STUDY)
                  A=0.004682/147 (GnomAD)
                  A=0.004731/574 (ExAC)
                  A=0.005027/1264 (GnomAD_exomes)
                  A=0.006196/778 (TOPMED)
                  A=0.007491/4 (MGP)
                  A=0.007551/28 (TWINSUK)
                  A=0.0096/37 (ALSPAC)
                  A=0.012371/12 (HapMap)
                  A=0.013889/3 (Qatari)
                  A=0.025/1 (GENOME_DK)
                  HGVS:
                  10.

                  rs6025 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    1:169549811 (GRCh38)
                    1:169519049 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:169549810:C:A,NC_000001.11:169549810:C:T
                    Gene:
                    F5 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Clinical significance:
                    benign,pathogenic,conflicting-interpretations-of-pathogenicity,drug-response,risk-factor
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.019477/832 (ALFA)
                    T=0./0 (KOREAN)
                    T=0.006175/486 (PAGE_STUDY)
                    T=0.008818/10 (HapMap)
                    T=0.019256/2418 (TOPMED)
                    HGVS:
                    11.

                    rs6054 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      4:154568456 (GRCh38)
                      4:155489608 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:154568455:C:T
                      Gene:
                      FGB (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Clinical significance:
                      likely-benign,likely-pathogenic,pathogenic,uncertain-significance
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.003997/516 (ALFA)
                      T=0.000223/1 (Estonian)
                      T=0.000342/1 (KOREAN)
                      T=0.000998/5 (1000Genomes)
                      T=0.001029/81 (PAGE_STUDY)
                      T=0.002352/591 (GnomAD_exomes)
                      T=0.002431/295 (ExAC)
                      T=0.002585/81 (GnomAD)
                      T=0.002955/371 (TOPMED)
                      T=0.003067/1 (HapMap)
                      T=0.003152/41 (GoESP)
                      T=0.003289/1 (FINRISK)
                      T=0.005708/22 (ALSPAC)
                      T=0.006667/4 (NorthernSweden)
                      T=0.006742/25 (TWINSUK)
                      T=0.007014/7 (GoNL)
                      HGVS:
                      12.

                      rs6063 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        4:154609725 (GRCh38)
                        4:155530877 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:154609724:C:T
                        Gene:
                        FGG (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Clinical significance:
                        likely-benign,uncertain-significance,pathogenic
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.006072/571 (ALFA)
                        T=0.001761/2 (Daghestan)
                        T=0.001786/8 (Estonian)
                        T=0.002485/78 (GnomAD)
                        T=0.002541/200 (PAGE_STUDY)
                        T=0.002705/328 (ExAC)
                        T=0.002796/14 (1000Genomes)
                        T=0.00281/706 (GnomAD_exomes)
                        T=0.003432/431 (TOPMED)
                        T=0.003745/2 (MGP)
                        T=0.003776/14 (TWINSUK)
                        T=0.005/3 (NorthernSweden)
                        T=0.006012/6 (GoNL)
                        T=0.006746/26 (ALSPAC)
                        T=0.008316/8 (HapMap)
                        HGVS:
                        13.

                        rs6189 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          5:143400774 (GRCh38)
                          5:142780339 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:143400773:C:A,NC_000005.10:143400773:C:T
                          Gene:
                          NR3C1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,synonymous_variant
                          Clinical significance:
                          benign-likely-benign,pathogenic
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.022318/907 (ALFA)
                          T=0./0 (KOREAN)
                          T=0.005858/461 (PAGE_STUDY)
                          T=0.009506/5 (PharmGKB)
                          T=0.010583/53 (1000Genomes)
                          T=0.013109/7 (MGP)
                          T=0.015697/1971 (TOPMED)
                          T=0.017837/2163 (ExAC)
                          T=0.01857/583 (GnomAD)
                          T=0.020913/272 (GoESP)
                          T=0.022321/100 (Estonian)
                          T=0.023026/7 (FINRISK)
                          T=0.025/1 (GENOME_DK)
                          T=0.025801/29 (Daghestan)
                          T=0.026969/100 (TWINSUK)
                          T=0.027054/27 (GoNL)
                          T=0.028333/17 (NorthernSweden)
                          T=0.030358/117 (ALSPAC)
                          C=0.5/10 (SGDP_PRJ)
                          C=0.5/2 (Siberian)
                          HGVS:
                          NC_000005.10:g.143400774C>A, NC_000005.10:g.143400774C>T, NC_000005.9:g.142780339C>A, NC_000005.9:g.142780339C>T, NG_009062.1:g.39739G>T, NG_009062.1:g.39739G>A, NM_000176.3:c.66G>T, NM_000176.3:c.66G>A, NM_000176.2:c.66G>T, NM_000176.2:c.66G>A, NM_001024094.2:c.66G>T, NM_001024094.2:c.66G>A, NM_001024094.1:c.66G>T, NM_001024094.1:c.66G>A, NM_001204264.2:c.-940G>T, NM_001204264.2:c.-940G>A, NM_001204264.1:c.-940G>T, NM_001204264.1:c.-940G>A, NM_001204263.2:c.-925G>T, NM_001204263.2:c.-925G>A, NM_001204263.1:c.-925G>T, NM_001204263.1:c.-925G>A, NM_001204262.2:c.-880G>T, NM_001204262.2:c.-880G>A, NM_001204262.1:c.-880G>T, NM_001204262.1:c.-880G>A, NM_001204261.2:c.-226G>T, NM_001204261.2:c.-226G>A, NM_001204261.1:c.-226G>T, NM_001204261.1:c.-226G>A, NM_001204260.2:c.-202G>T, NM_001204260.2:c.-202G>A, NM_001204260.1:c.-202G>T, NM_001204260.1:c.-202G>A, NM_001204259.2:c.-190G>T, NM_001204259.2:c.-190G>A, NM_001204259.1:c.-190G>T, NM_001204259.1:c.-190G>A, NM_001204258.2:c.-13G>T, NM_001204258.2:c.-13G>A, NM_001204258.1:c.-13G>T, NM_001204258.1:c.-13G>A, NM_001364183.2:c.66G>T, NM_001364183.2:c.66G>A, NM_001364183.1:c.66G>T, NM_001364183.1:c.66G>A, NM_001364181.2:c.66G>T, NM_001364181.2:c.66G>A, NM_001364181.1:c.66G>T, NM_001364181.1:c.66G>A, NM_001364180.2:c.66G>T, NM_001364180.2:c.66G>A, NM_001364180.1:c.66G>T, NM_001364180.1:c.66G>A, NM_001364184.2:c.66G>T, NM_001364184.2:c.66G>A, NM_001364184.1:c.66G>T, NM_001364184.1:c.66G>A, NM_001018076.2:c.66G>T, NM_001018076.2:c.66G>A, NM_001018076.1:c.66G>T, NM_001018076.1:c.66G>A, NM_001020825.2:c.66G>T, NM_001020825.2:c.66G>A, NM_001020825.1:c.66G>T, NM_001020825.1:c.66G>A, NM_001204265.2:c.66G>T, NM_001204265.2:c.66G>A, NM_001204265.1:c.66G>T, NM_001204265.1:c.66G>A, NM_001018077.1:c.66G>T, NM_001018077.1:c.66G>A, NM_001364185.1:c.66G>T, NM_001364185.1:c.66G>A, NM_001364182.1:c.66G>T, NM_001364182.1:c.66G>A, NM_001018074.1:c.66G>T, NM_001018074.1:c.66G>A, NM_001018075.1:c.66G>T, NM_001018075.1:c.66G>A, XM_005268422.3:c.66G>T, XM_005268422.3:c.66G>A, XM_005268422.1:c.66G>T, XM_005268422.1:c.66G>A, XM_005268423.3:c.66G>T, XM_005268423.3:c.66G>A, XM_005268423.1:c.66G>T, XM_005268423.1:c.66G>A, NP_000167.1:p.Glu22Asp, NP_001019265.1:p.Glu22Asp, NP_001351112.1:p.Glu22Asp, NP_001351110.1:p.Glu22Asp, NP_001351109.1:p.Glu22Asp, NP_001351113.1:p.Glu22Asp, NP_001018086.1:p.Glu22Asp, NP_001018661.1:p.Glu22Asp, NP_001191194.1:p.Glu22Asp, NP_001018087.1:p.Glu22Asp, NP_001351114.1:p.Glu22Asp, NP_001351111.1:p.Glu22Asp, NP_001018084.1:p.Glu22Asp, NP_001018085.1:p.Glu22Asp, XP_005268479.1:p.Glu22Asp, XP_005268480.1:p.Glu22Asp
                          14.

                          rs6256 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            11:13492506 (GRCh38)
                            11:13514053 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:13492505:G:A,NC_000011.10:13492505:G:T
                            Gene:
                            PTH (Varview)
                            Functional Consequence:
                            stop_gained,synonymous_variant,coding_sequence_variant
                            Clinical significance:
                            benign,pathogenic
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.14664/4159 (ALFA)
                            T=0.103659/34 (HapMap)
                            T=0.109836/67 (Vietnamese)
                            T=0.120524/15134 (TOPMED)
                            T=0.125546/230 (Korea1K)
                            T=0.126756/3916 (GnomAD)
                            T=0.128333/77 (NorthernSweden)
                            T=0.129021/377 (KOREAN)
                            T=0.145313/651 (Estonian)
                            T=0.149299/149 (GoNL)
                            T=0.151358/758 (1000Genomes)
                            T=0.152318/46 (FINRISK)
                            T=0.153182/568 (TWINSUK)
                            T=0.15698/605 (ALSPAC)
                            T=0.161057/19544 (ExAC)
                            T=0.166667/89 (MGP)
                            T=0.319444/69 (Qatari)
                            G=0.426667/64 (SGDP_PRJ)
                            G=0.5/6 (Siberian)
                            HGVS:
                            15.

                            rs6336 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:156879126 (GRCh38)
                              1:156848918 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:156879125:C:T
                              Gene:
                              NTRK1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Clinical significance:
                              benign,benign-likely-benign,pathogenic
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.054684/2649 (ALFA)
                              T=0.000684/2 (KOREAN)
                              T=0.015244/5 (HapMap)
                              T=0.019392/1526 (PAGE_STUDY)
                              T=0.023179/7 (FINRISK)
                              T=0.024361/122 (1000Genomes)
                              T=0.036411/4572 (TOPMED)
                              T=0.037037/8 (Qatari)
                              T=0.037115/1164 (GnomAD)
                              T=0.041647/10359 (GnomAD_exomes)
                              T=0.042526/5104 (ExAC)
                              T=0.04509/45 (GoNL)
                              T=0.05/2 (GENOME_DK)
                              T=0.050562/27 (MGP)
                              T=0.051667/31 (NorthernSweden)
                              T=0.055556/206 (TWINSUK)
                              T=0.058381/225 (ALSPAC)
                              T=0.058955/264 (Estonian)
                              C=0.5/2 (Siberian)
                              C=0.5/20 (SGDP_PRJ)
                              HGVS:
                              16.

                              rs6339 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                1:156879154 (GRCh38)
                                1:156848946 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:156879153:G:T
                                Gene:
                                NTRK1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Clinical significance:
                                benign,benign-likely-benign,pathogenic
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.053844/5754 (ALFA)
                                T=0.000685/2 (KOREAN)
                                T=0.019428/1529 (PAGE_STUDY)
                                T=0.022963/115 (1000Genomes)
                                T=0.023179/7 (FINRISK)
                                T=0.031397/40 (HapMap)
                                T=0.03645/4577 (TOPMED)
                                T=0.037037/8 (Qatari)
                                T=0.037198/1166 (GnomAD)
                                T=0.041676/10381 (GnomAD_exomes)
                                T=0.042404/5101 (ExAC)
                                T=0.04509/45 (GoNL)
                                T=0.051667/31 (NorthernSweden)
                                T=0.052434/28 (MGP)
                                T=0.055556/206 (TWINSUK)
                                T=0.058482/262 (Estonian)
                                T=0.05864/226 (ALSPAC)
                                G=0.5/2 (Siberian)
                                G=0.5/20 (SGDP_PRJ)
                                HGVS:
                                17.

                                rs6445 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  6:32041006 (GRCh38)
                                  6:32008783 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:32041005:C:T
                                  Gene:
                                  CYP21A2 (Varview), TNXB (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Clinical significance:
                                  pathogenic
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.004339/39 (ALFA)
                                  T=0.001797/9 (1000Genomes)
                                  T=0.002278/29 (ExAC)
                                  T=0.004597/633 (GnomAD_exomes)
                                  T=0.025/1 (GENOME_DK)
                                  C=0.25/1 (SGDP_PRJ)
                                  HGVS:
                                  18.

                                  rs6467 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    6:32039081 (GRCh38)
                                    6:32006858 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:32039080:C:A,NC_000006.12:32039080:C:G,NC_000006.12:32039080:C:T
                                    Gene:
                                    CYP21A2 (Varview)
                                    Functional Consequence:
                                    intron_variant,5_prime_UTR_variant
                                    Clinical significance:
                                    pathogenic,not-provided,benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.42163/17776 (ALFA)
                                    A=0.2/2 (Korea1K)
                                    C=0.25/11 (Siberian)
                                    C=0.28017/130 (SGDP_PRJ)
                                    C=0.325/260 (HapMap)
                                    C=0.3446/1009 (KOREAN)
                                    C=0.34824/1744 (1000Genomes)
                                    C=0.37065/4817 (GoESP)
                                    C=0.40278/87 (Qatari)
                                    C=0.42322/226 (MGP)
                                    HGVS:
                                    NC_000006.12:g.32039081C>A, NC_000006.12:g.32039081C>G, NC_000006.12:g.32039081C>T, NC_000006.11:g.32006858C>A, NC_000006.11:g.32006858C>G, NC_000006.11:g.32006858C>T, NG_007941.3:g.5777C>A, NG_007941.3:g.5777C>G, NG_007941.3:g.5777C>T, NM_001368143.1:c.-126C>A, NM_001368143.1:c.-126C>G, NM_001368143.1:c.-126C>T, NM_001368144.1:c.-126C>A, NM_001368144.1:c.-126C>G, NM_001368144.1:c.-126C>T, NT_113891.3:g.3477403C>A, NT_113891.3:g.3477403C>G, NT_113891.3:g.3477403C>T, NT_113891.2:g.3477509C>A, NT_113891.2:g.3477509C>G, NT_113891.2:g.3477509C>T, NT_167245.2:g.3280489A>C, NT_167245.2:g.3280489A>G, NT_167245.2:g.3280489A>T, NT_167245.1:g.3286074A>C, NT_167245.1:g.3286074A>G, NT_167245.1:g.3286074A>T, NT_167249.2:g.3340268A>C, NT_167249.2:g.3340268A>G, NT_167249.2:g.3340268A>T, NT_167249.1:g.3339566A>C, NT_167249.1:g.3339566A>G, NT_167249.1:g.3339566A>T, NT_167247.2:g.3381114C>A, NT_167247.2:g.3381114C>G, NT_167247.2:g.3381114C>T, NT_167247.1:g.3386699C>A, NT_167247.1:g.3386699C>G, NT_167247.1:g.3386699C>T, NG_045215.1:g.1310C>A, NG_045215.1:g.1310C>G, NG_045215.1:g.1310C>T
                                    19.

                                    rs6471 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      6:32040110 (GRCh38)
                                      6:32007887 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:32040109:G:A,NC_000006.12:32040109:G:C,NC_000006.12:32040109:G:T
                                      Gene:
                                      CYP21A2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Clinical significance:
                                      pathogenic
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.0343/308 (ALFA)
                                      T=0.0021/6 (KOREAN)
                                      G=0.5/4 (SGDP_PRJ)
                                      HGVS:
                                      NC_000006.12:g.32040110G>A, NC_000006.12:g.32040110G>C, NC_000006.12:g.32040110G>T, NC_000006.11:g.32007887G>A, NC_000006.11:g.32007887G>C, NC_000006.11:g.32007887G>T, NG_007941.3:g.6806G>A, NG_007941.3:g.6806G>C, NG_007941.3:g.6806G>T, NM_000500.9:c.844G>A, NM_000500.9:c.844G>C, NM_000500.9:c.844G>T, NM_000500.8:c.844G>A, NM_000500.8:c.844G>C, NM_000500.8:c.844G>T, NM_000500.7:c.844G>A, NM_000500.7:c.844G>C, NM_000500.7:c.844G>T, NM_001128590.3:c.754G>A, NM_001128590.3:c.754G>C, NM_001128590.3:c.754G>T, NM_001368143.1:c.439G>A, NM_001368143.1:c.439G>C, NM_001368143.1:c.439G>T, NM_001368144.1:c.439G>A, NM_001368144.1:c.439G>C, NM_001368144.1:c.439G>T, NT_113891.3:g.3478432G>A, NT_113891.3:g.3478432G>C, NT_113891.3:g.3478432G>T, NT_113891.2:g.3478538G>A, NT_113891.2:g.3478538G>C, NT_113891.2:g.3478538G>T, NT_167245.2:g.3281518G>A, NT_167245.2:g.3281518G>C, NT_167245.2:g.3281518G>T, NT_167245.1:g.3287103G>A, NT_167245.1:g.3287103G>C, NT_167245.1:g.3287103G>T, NT_167249.2:g.3341297G>A, NT_167249.2:g.3341297G>C, NT_167249.2:g.3341297G>T, NT_167249.1:g.3340595G>A, NT_167249.1:g.3340595G>C, NT_167249.1:g.3340595G>T, NT_167247.2:g.3382143G>A, NT_167247.2:g.3382143G>C, NT_167247.2:g.3382143G>T, NT_167247.1:g.3387728G>A, NT_167247.1:g.3387728G>C, NT_167247.1:g.3387728G>T, NG_008337.2:g.74265C>T, NG_008337.2:g.74265C>G, NG_008337.2:g.74265C>A, NG_045215.1:g.2339G>A, NG_045215.1:g.2339G>C, NG_045215.1:g.2339G>T, NP_000491.4:p.Val282Met, NP_000491.4:p.Val282Leu, NP_000491.4:p.Val282Leu, NP_001122062.3:p.Val252Met, NP_001122062.3:p.Val252Leu, NP_001122062.3:p.Val252Leu, NP_001355072.1:p.Val147Met, NP_001355072.1:p.Val147Leu, NP_001355072.1:p.Val147Leu, NP_001355073.1:p.Val147Met, NP_001355073.1:p.Val147Leu, NP_001355073.1:p.Val147Leu
                                      20.

                                      rs6475 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        6:32039426 (GRCh38)
                                        6:32007203 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:32039425:T:A
                                        Gene:
                                        CYP21A2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Clinical significance:
                                        pathogenic
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000668/6 (ALFA)
                                        A=0.000404/41 (ExAC)
                                        A=0.000481/120 (GnomAD_exomes)
                                        A=0.000799/4 (1000Genomes)
                                        A=0.001002/1 (GoNL)
                                        A=0.002399/7 (KOREAN)
                                        HGVS:

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