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Items: 1 to 20 of 3588

1.

rs1491472396 has merged into rs548085618 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    17:38700938 (GRCh38)
    17:36857191 (GRCh37)
    Canonical SPDI:
    NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    LOC105371763 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000017.11:g.38700938_38700953del, NC_000017.11:g.38700939_38700953del, NC_000017.11:g.38700940_38700953del, NC_000017.11:g.38700941_38700953del, NC_000017.11:g.38700942_38700953del, NC_000017.11:g.38700943_38700953del, NC_000017.11:g.38700944_38700953del, NC_000017.11:g.38700945_38700953del, NC_000017.11:g.38700946_38700953del, NC_000017.11:g.38700947_38700953del, NC_000017.11:g.38700948_38700953del, NC_000017.11:g.38700949_38700953del, NC_000017.11:g.38700950_38700953del, NC_000017.11:g.38700951_38700953del, NC_000017.11:g.38700952_38700953del, NC_000017.11:g.38700953del, NC_000017.11:g.38700953dup, NC_000017.11:g.38700952_38700953dup, NC_000017.11:g.38700951_38700953dup, NC_000017.11:g.38700950_38700953dup, NC_000017.11:g.38700949_38700953dup, NC_000017.11:g.38700948_38700953dup, NC_000017.11:g.38700947_38700953dup, NC_000017.11:g.38700946_38700953dup, NC_000017.10:g.36857191_36857206del, NC_000017.10:g.36857192_36857206del, NC_000017.10:g.36857193_36857206del, NC_000017.10:g.36857194_36857206del, NC_000017.10:g.36857195_36857206del, NC_000017.10:g.36857196_36857206del, NC_000017.10:g.36857197_36857206del, NC_000017.10:g.36857198_36857206del, NC_000017.10:g.36857199_36857206del, NC_000017.10:g.36857200_36857206del, NC_000017.10:g.36857201_36857206del, NC_000017.10:g.36857202_36857206del, NC_000017.10:g.36857203_36857206del, NC_000017.10:g.36857204_36857206del, NC_000017.10:g.36857205_36857206del, NC_000017.10:g.36857206del, NC_000017.10:g.36857206dup, NC_000017.10:g.36857205_36857206dup, NC_000017.10:g.36857204_36857206dup, NC_000017.10:g.36857203_36857206dup, NC_000017.10:g.36857202_36857206dup, NC_000017.10:g.36857201_36857206dup, NC_000017.10:g.36857200_36857206dup, NC_000017.10:g.36857199_36857206dup, NT_187614.1:g.2736257_2736272del, NT_187614.1:g.2736258_2736272del, NT_187614.1:g.2736259_2736272del, NT_187614.1:g.2736260_2736272del, NT_187614.1:g.2736261_2736272del, NT_187614.1:g.2736262_2736272del, NT_187614.1:g.2736263_2736272del, NT_187614.1:g.2736264_2736272del, NT_187614.1:g.2736265_2736272del, NT_187614.1:g.2736266_2736272del, NT_187614.1:g.2736267_2736272del, NT_187614.1:g.2736268_2736272del, NT_187614.1:g.2736269_2736272del, NT_187614.1:g.2736270_2736272del, NT_187614.1:g.2736271_2736272del, NT_187614.1:g.2736272del, NT_187614.1:g.2736272dup, NT_187614.1:g.2736271_2736272dup, NT_187614.1:g.2736270_2736272dup, NT_187614.1:g.2736269_2736272dup, NT_187614.1:g.2736268_2736272dup, NT_187614.1:g.2736267_2736272dup, NT_187614.1:g.2736266_2736272dup, NT_187614.1:g.2736265_2736272dup
    2.

    rs1491289758 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      17:38700925 (GRCh38)
      17:36857178 (GRCh37)
      Canonical SPDI:
      NC_000017.11:38700924:CA:
      Gene:
      LOC105371763 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491287293 has merged into rs60056669 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
        Chromosome:
        17:38696699 (GRCh38)
        17:36852952 (GRCh37)
        Canonical SPDI:
        NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACACACACACACACAC=0./0 (ALFA)
        -=0.378/1893 (1000Genomes)
        HGVS:
        NC_000017.11:g.38696683AC[8], NC_000017.11:g.38696683AC[9], NC_000017.11:g.38696683AC[10], NC_000017.11:g.38696683AC[11], NC_000017.11:g.38696683AC[12], NC_000017.11:g.38696683AC[13], NC_000017.11:g.38696683AC[14], NC_000017.11:g.38696683AC[15], NC_000017.11:g.38696683AC[16], NC_000017.11:g.38696683AC[17], NC_000017.11:g.38696683AC[18], NC_000017.11:g.38696683AC[20], NC_000017.11:g.38696683AC[21], NC_000017.11:g.38696683AC[22], NC_000017.11:g.38696683AC[23], NC_000017.11:g.38696683AC[24], NC_000017.11:g.38696683AC[25], NC_000017.11:g.38696683AC[26], NC_000017.11:g.38696683AC[27], NC_000017.11:g.38696683AC[28], NC_000017.10:g.36852936AC[8], NC_000017.10:g.36852936AC[9], NC_000017.10:g.36852936AC[10], NC_000017.10:g.36852936AC[11], NC_000017.10:g.36852936AC[12], NC_000017.10:g.36852936AC[13], NC_000017.10:g.36852936AC[14], NC_000017.10:g.36852936AC[15], NC_000017.10:g.36852936AC[16], NC_000017.10:g.36852936AC[17], NC_000017.10:g.36852936AC[18], NC_000017.10:g.36852936AC[20], NC_000017.10:g.36852936AC[21], NC_000017.10:g.36852936AC[22], NC_000017.10:g.36852936AC[23], NC_000017.10:g.36852936AC[24], NC_000017.10:g.36852936AC[25], NC_000017.10:g.36852936AC[26], NC_000017.10:g.36852936AC[27], NC_000017.10:g.36852936AC[28], NT_187614.1:g.2732002AC[8], NT_187614.1:g.2732002AC[9], NT_187614.1:g.2732002AC[10], NT_187614.1:g.2732002AC[11], NT_187614.1:g.2732002AC[12], NT_187614.1:g.2732002AC[13], NT_187614.1:g.2732002AC[14], NT_187614.1:g.2732002AC[15], NT_187614.1:g.2732002AC[16], NT_187614.1:g.2732002AC[17], NT_187614.1:g.2732002AC[18], NT_187614.1:g.2732002AC[20], NT_187614.1:g.2732002AC[21], NT_187614.1:g.2732002AC[22], NT_187614.1:g.2732002AC[23], NT_187614.1:g.2732002AC[24], NT_187614.1:g.2732002AC[25], NT_187614.1:g.2732002AC[26], NT_187614.1:g.2732002AC[27], NT_187614.1:g.2732002AC[28]
        4.

        rs1490805470 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          17:38696117 (GRCh38)
          17:36852370 (GRCh37)
          Canonical SPDI:
          NC_000017.11:38696116:C:A
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490735246 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:38695123 (GRCh38)
            17:36851376 (GRCh37)
            Canonical SPDI:
            NC_000017.11:38695122:C:T
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1490713970 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:38695275 (GRCh38)
              17:36851528 (GRCh37)
              Canonical SPDI:
              NC_000017.11:38695274:C:T
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490570322 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                17:38696041 (GRCh38)
                17:36852294 (GRCh37)
                Canonical SPDI:
                NC_000017.11:38696040:G:T
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490221713 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  17:38694674 (GRCh38)
                  17:36850927 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:38694673:A:C,NC_000017.11:38694673:A:G
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489718386 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    17:38696925 (GRCh38)
                    17:36853178 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:38696924:C:A
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1489513059 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:38690279 (GRCh38)
                      17:36846532 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:38690278:G:A
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489283439 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        17:38697249 (GRCh38)
                        17:36853502 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:38697248:C:G
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1489281620 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:38689500 (GRCh38)
                          17:36845753 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:38689499:T:C
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          C=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1489253969 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            17:38704705 (GRCh38)
                            17:36860958 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:38704704:G:T
                            Gene:
                            MLLT6 (Varview), LOC105371763 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            14.

                            rs1489104801 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              17:38690019 (GRCh38)
                              17:36846272 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:38690018:G:C
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489002719 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:38703963 (GRCh38)
                                17:36860216 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:38703962:C:T
                                Gene:
                                MLLT6 (Varview), MIR4734 (Varview), LOC105371763 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488687336 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  17:38693735 (GRCh38)
                                  17:36849988 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:38693734:G:A,NC_000017.11:38693734:G:T
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488633882 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    17:38691590 (GRCh38)
                                    17:36847843 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:38691589:C:A
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488187990 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      17:38690325 (GRCh38)
                                      17:36846578 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:38690324:G:T
                                      HGVS:
                                      19.

                                      rs1488080162 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:38693966 (GRCh38)
                                        17:36850219 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:38693965:C:T
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487519354 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:38689543 (GRCh38)
                                          17:36845796 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:38689542:C:T
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000312/2 (1000Genomes)
                                          HGVS:

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