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Items: 1 to 20 of 6283

1.

rs1491446453 has merged into rs5819002 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    17:4979517 (GRCh38)
    17:4882812 (GRCh37)
    Canonical SPDI:
    NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    CAMTA2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000017.11:g.4979517_4979529del, NC_000017.11:g.4979518_4979529del, NC_000017.11:g.4979520_4979529del, NC_000017.11:g.4979521_4979529del, NC_000017.11:g.4979522_4979529del, NC_000017.11:g.4979523_4979529del, NC_000017.11:g.4979524_4979529del, NC_000017.11:g.4979525_4979529del, NC_000017.11:g.4979526_4979529del, NC_000017.11:g.4979527_4979529del, NC_000017.11:g.4979528_4979529del, NC_000017.11:g.4979529del, NC_000017.11:g.4979529dup, NC_000017.11:g.4979528_4979529dup, NC_000017.11:g.4979527_4979529dup, NC_000017.11:g.4979526_4979529dup, NC_000017.11:g.4979525_4979529dup, NC_000017.11:g.4979524_4979529dup, NC_000017.10:g.4882812_4882824del, NC_000017.10:g.4882813_4882824del, NC_000017.10:g.4882815_4882824del, NC_000017.10:g.4882816_4882824del, NC_000017.10:g.4882817_4882824del, NC_000017.10:g.4882818_4882824del, NC_000017.10:g.4882819_4882824del, NC_000017.10:g.4882820_4882824del, NC_000017.10:g.4882821_4882824del, NC_000017.10:g.4882822_4882824del, NC_000017.10:g.4882823_4882824del, NC_000017.10:g.4882824del, NC_000017.10:g.4882824dup, NC_000017.10:g.4882823_4882824dup, NC_000017.10:g.4882822_4882824dup, NC_000017.10:g.4882821_4882824dup, NC_000017.10:g.4882820_4882824dup, NC_000017.10:g.4882819_4882824dup
    2.

    rs1491011821 has merged into rs1340577918 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GAGA>-,GA,GAGAGA [Show Flanks]
      Chromosome:
      17:4979534 (GRCh38)
      17:4882829 (GRCh37)
      Canonical SPDI:
      NC_000017.11:4979528:AGAGAGAGA:AGAGA,NC_000017.11:4979528:AGAGAGAGA:AGAGAGA,NC_000017.11:4979528:AGAGAGAGA:AGAGAGAGAGA
      Gene:
      CAMTA2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AGAGAGA=0.00006/1 (ALFA)
      -=0.02238/41 (Korea1K)
      HGVS:
      3.

      rs1491004825 has merged into rs5819002 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        17:4979517 (GRCh38)
        17:4882812 (GRCh37)
        Canonical SPDI:
        NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:4979508:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        CAMTA2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000017.11:g.4979517_4979529del, NC_000017.11:g.4979518_4979529del, NC_000017.11:g.4979520_4979529del, NC_000017.11:g.4979521_4979529del, NC_000017.11:g.4979522_4979529del, NC_000017.11:g.4979523_4979529del, NC_000017.11:g.4979524_4979529del, NC_000017.11:g.4979525_4979529del, NC_000017.11:g.4979526_4979529del, NC_000017.11:g.4979527_4979529del, NC_000017.11:g.4979528_4979529del, NC_000017.11:g.4979529del, NC_000017.11:g.4979529dup, NC_000017.11:g.4979528_4979529dup, NC_000017.11:g.4979527_4979529dup, NC_000017.11:g.4979526_4979529dup, NC_000017.11:g.4979525_4979529dup, NC_000017.11:g.4979524_4979529dup, NC_000017.10:g.4882812_4882824del, NC_000017.10:g.4882813_4882824del, NC_000017.10:g.4882815_4882824del, NC_000017.10:g.4882816_4882824del, NC_000017.10:g.4882817_4882824del, NC_000017.10:g.4882818_4882824del, NC_000017.10:g.4882819_4882824del, NC_000017.10:g.4882820_4882824del, NC_000017.10:g.4882821_4882824del, NC_000017.10:g.4882822_4882824del, NC_000017.10:g.4882823_4882824del, NC_000017.10:g.4882824del, NC_000017.10:g.4882824dup, NC_000017.10:g.4882823_4882824dup, NC_000017.10:g.4882822_4882824dup, NC_000017.10:g.4882821_4882824dup, NC_000017.10:g.4882820_4882824dup, NC_000017.10:g.4882819_4882824dup
        4.

        rs1490740372 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          17:4983946 (GRCh38)
          17:4887241 (GRCh37)
          Canonical SPDI:
          NC_000017.11:4983945:T:C
          Gene:
          CAMTA2 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490737940 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            17:4976781 (GRCh38)
            17:4880076 (GRCh37)
            Canonical SPDI:
            NC_000017.11:4976780:T:G
            Gene:
            CAMTA2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency
            MAF:
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490721866 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GT>- [Show Flanks]
              Chromosome:
              17:4969433 (GRCh38)
              17:4872728 (GRCh37)
              Canonical SPDI:
              NC_000017.11:4969431:TGT:T
              Gene:
              SPAG7 (Varview), CAMTA2 (Varview), MIR6864 (Varview), LOC124900387 (Varview)
              Functional Consequence:
              downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              -=0.000007/1 (GnomAD)
              -=0.000015/4 (TOPMED)
              -=0.00008/1 (GoESP)
              HGVS:
              7.

              rs1490590109 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                17:4973382 (GRCh38)
                17:4876677 (GRCh37)
                Canonical SPDI:
                NC_000017.11:4973381:A:C
                Gene:
                CAMTA2 (Varview), LOC124903901 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1490538945 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  17:4971369 (GRCh38)
                  17:4874664 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:4971368:A:G
                  Gene:
                  CAMTA2 (Varview), MIR6864 (Varview), MIR6865 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000021/3 (GnomAD)
                  G=0.00003/8 (TOPMED)
                  HGVS:
                  9.

                  rs1490506586 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CGG>- [Show Flanks]
                    Chromosome:
                    17:4968865 (GRCh38)
                    17:4872160 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:4968864:CGG:
                    Gene:
                    SPAG7 (Varview), CAMTA2 (Varview), LOC124900387 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490246018 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      17:4978188 (GRCh38)
                      17:4881483 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:4978187:C:A
                      Gene:
                      CAMTA2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1489733462 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        17:4967686 (GRCh38)
                        17:4870981 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:4967685:C:G
                        Gene:
                        SPAG7 (Varview), CAMTA2 (Varview), LOC124900387 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489574070 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          17:4978894 (GRCh38)
                          17:4882189 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:4978893:T:G
                          Gene:
                          CAMTA2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          14.

                          rs1489326346 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:4971623 (GRCh38)
                            17:4874918 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:4971622:G:A
                            Gene:
                            CAMTA2 (Varview), MIR6864 (Varview), MIR6865 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            16.

                            rs1489103857 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              17:4978271 (GRCh38)
                              17:4881566 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:4978270:A:G,NC_000017.11:4978270:A:T
                              Gene:
                              CAMTA2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              17.

                              rs1488911520 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                17:4985921 (GRCh38)
                                17:4889216 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:4985920:G:A,NC_000017.11:4985920:G:C
                                Gene:
                                CAMTA2 (Varview), CAMTA2-AS1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000047/1 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.4985921G>A, NC_000017.11:g.4985921G>C, NC_000017.10:g.4889216G>A, NC_000017.10:g.4889216G>C, XM_006721478.5:c.94C>T, XM_006721478.5:c.94C>G, XM_006721478.4:c.94C>T, XM_006721478.4:c.94C>G, XM_006721478.3:c.94C>T, XM_006721478.3:c.94C>G, XM_006721478.2:c.94C>T, XM_006721478.2:c.94C>G, XM_006721478.1:c.94C>T, XM_006721478.1:c.94C>G, XM_011523746.4:c.163C>T, XM_011523746.4:c.163C>G, XM_011523746.3:c.163C>T, XM_011523746.3:c.163C>G, XM_011523746.2:c.163C>T, XM_011523746.2:c.163C>G, XM_011523746.1:c.163C>T, XM_011523746.1:c.163C>G, XM_011523747.4:c.163C>T, XM_011523747.4:c.163C>G, XM_011523747.3:c.163C>T, XM_011523747.3:c.163C>G, XM_011523747.2:c.163C>T, XM_011523747.2:c.163C>G, XM_011523747.1:c.163C>T, XM_011523747.1:c.163C>G, XM_011523748.4:c.163C>T, XM_011523748.4:c.163C>G, XM_011523748.3:c.163C>T, XM_011523748.3:c.163C>G, XM_011523748.2:c.163C>T, XM_011523748.2:c.163C>G, XM_011523748.1:c.163C>T, XM_011523748.1:c.163C>G, XM_011523749.4:c.163C>T, XM_011523749.4:c.163C>G, XM_011523749.3:c.163C>T, XM_011523749.3:c.163C>G, XM_011523749.2:c.163C>T, XM_011523749.2:c.163C>G, XM_011523749.1:c.163C>T, XM_011523749.1:c.163C>G, NM_015099.4:c.94C>T, NM_015099.4:c.94C>G, NM_015099.3:c.94C>T, NM_015099.3:c.94C>G, NM_001171167.2:c.163C>T, NM_001171167.2:c.163C>G, NM_001171167.1:c.163C>T, NM_001171167.1:c.163C>G, NM_001171168.2:c.163C>T, NM_001171168.2:c.163C>G, NM_001171168.1:c.163C>T, NM_001171168.1:c.163C>G, NM_001171166.2:c.100C>T, NM_001171166.2:c.100C>G, NM_001171166.1:c.100C>T, NM_001171166.1:c.100C>G, XM_047435670.1:c.163C>T, XM_047435670.1:c.163C>G, XM_047435671.1:c.163C>T, XM_047435671.1:c.163C>G, XP_006721541.1:p.Pro32Ser, XP_006721541.1:p.Pro32Ala, XP_011522048.1:p.Pro55Ser, XP_011522048.1:p.Pro55Ala, XP_011522049.1:p.Pro55Ser, XP_011522049.1:p.Pro55Ala, XP_011522050.1:p.Pro55Ser, XP_011522050.1:p.Pro55Ala, XP_011522051.1:p.Pro55Ser, XP_011522051.1:p.Pro55Ala, NP_055914.2:p.Pro32Ser, NP_055914.2:p.Pro32Ala, NP_001164638.1:p.Pro55Ser, NP_001164638.1:p.Pro55Ala, NP_001164639.1:p.Pro55Ser, NP_001164639.1:p.Pro55Ala, NP_001164637.1:p.Pro34Ser, NP_001164637.1:p.Pro34Ala, XP_047291626.1:p.Pro55Ser, XP_047291626.1:p.Pro55Ala, XP_047291627.1:p.Pro55Ser, XP_047291627.1:p.Pro55Ala
                                18.

                                rs1488709411 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  17:4987433 (GRCh38)
                                  17:4890728 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:4987432:C:G,NC_000017.11:4987432:C:T
                                  Gene:
                                  CAMTA2 (Varview), CAMTA2-AS1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  19.

                                  rs1488429907 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    17:4983316 (GRCh38)
                                    17:4886611 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:4983315:C:T
                                    Gene:
                                    CAMTA2 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    20.

                                    rs1488361797 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      17:4968863 (GRCh38)
                                      17:4872158 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:4968862:G:A,NC_000017.11:4968862:G:C
                                      Gene:
                                      SPAG7 (Varview), CAMTA2 (Varview), LOC124900387 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000012/3 (GnomAD_exomes)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:

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