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Items: 1 to 20 of 7777

1.

rs1491534440 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    19:51972947 (GRCh38)
    19:52476200 (GRCh37)
    Canonical SPDI:
    NC_000019.10:51972946:CT:
    Gene:
    ZNF350 (Varview), ZNF350-AS1 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.000071/1 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491493931 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      19:51967890 (GRCh38)
      19:52471144 (GRCh37)
      Canonical SPDI:
      NC_000019.10:51967890:GGGG:GGGGG
      Gene:
      ZNF350 (Varview), ZNF350-AS1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGG=0./0 (ALFA)
      G=0.000045/12 (TOPMED)
      G=0.000071/10 (GnomAD)
      HGVS:
      3.

      rs1491493189 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AG>- [Show Flanks]
        Chromosome:
        19:51967890 (GRCh38)
        19:52471143 (GRCh37)
        Canonical SPDI:
        NC_000019.10:51967889:AG:
        Gene:
        ZNF350 (Varview), ZNF350-AS1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491416676 has merged into rs202054246 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          19:51975444 (GRCh38)
          19:52478697 (GRCh37)
          Canonical SPDI:
          NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          ZNF350 (Varview), ZNF350-AS1 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAA=0./0 (ALFA)
          A=0.0917/459 (1000Genomes)
          HGVS:
          NC_000019.10:g.51975444_51975452del, NC_000019.10:g.51975445_51975452del, NC_000019.10:g.51975446_51975452del, NC_000019.10:g.51975447_51975452del, NC_000019.10:g.51975448_51975452del, NC_000019.10:g.51975449_51975452del, NC_000019.10:g.51975450_51975452del, NC_000019.10:g.51975451_51975452del, NC_000019.10:g.51975452del, NC_000019.10:g.51975452dup, NC_000019.10:g.51975451_51975452dup, NC_000019.10:g.51975450_51975452dup, NC_000019.10:g.51975449_51975452dup, NC_000019.10:g.51975448_51975452dup, NC_000019.10:g.51975447_51975452dup, NC_000019.10:g.51975446_51975452dup, NC_000019.10:g.51975445_51975452dup, NC_000019.10:g.51975444_51975452dup, NC_000019.10:g.51975443_51975452dup, NC_000019.10:g.51975442_51975452dup, NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.52478697_52478705del, NC_000019.9:g.52478698_52478705del, NC_000019.9:g.52478699_52478705del, NC_000019.9:g.52478700_52478705del, NC_000019.9:g.52478701_52478705del, NC_000019.9:g.52478702_52478705del, NC_000019.9:g.52478703_52478705del, NC_000019.9:g.52478704_52478705del, NC_000019.9:g.52478705del, NC_000019.9:g.52478705dup, NC_000019.9:g.52478704_52478705dup, NC_000019.9:g.52478703_52478705dup, NC_000019.9:g.52478702_52478705dup, NC_000019.9:g.52478701_52478705dup, NC_000019.9:g.52478700_52478705dup, NC_000019.9:g.52478699_52478705dup, NC_000019.9:g.52478698_52478705dup, NC_000019.9:g.52478697_52478705dup, NC_000019.9:g.52478696_52478705dup, NC_000019.9:g.52478695_52478705dup, NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          5.

          rs1491234915 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->AAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAA
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491156197 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              19:51956660 (GRCh38)
              19:52459913 (GRCh37)
              Canonical SPDI:
              NC_000019.10:51956659:CA:
              Gene:
              ZNF350-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00017/2 (ALFA)
              -=0.00021/6 (TOMMO)
              HGVS:
              7.

              rs1490947561 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:51953148 (GRCh38)
                19:52456401 (GRCh37)
                Canonical SPDI:
                NC_000019.10:51953147:A:G
                Gene:
                ZNF350-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000031/4 (GnomAD)
                G=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1490736323 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  19:51968117 (GRCh38)
                  19:52471370 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:51968116:A:C
                  Gene:
                  ZNF350 (Varview), ZNF350-AS1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000142/2 (ALFA)
                  C=0.000014/2 (GnomAD)
                  C=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1490572243 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C,G [Show Flanks]
                    Chromosome:
                    19:51967560 (GRCh38)
                    19:52470813 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:51967559:T:C,NC_000019.10:51967559:T:G
                    Gene:
                    ZNF350 (Varview), ZNF350-AS1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1490565059 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      19:51963338 (GRCh38)
                      19:52466591 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:51963337:A:G
                      Gene:
                      ZNF350-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490507877 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        19:51975927 (GRCh38)
                        19:52479180 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:51975926:A:G
                        Gene:
                        ZNF350 (Varview), ZNF350-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1490481488 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:51960834 (GRCh38)
                          19:52464087 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:51960833:G:A
                          Gene:
                          ZNF350-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1490455837 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            19:51976779 (GRCh38)
                            19:52480032 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:51976778:C:A,NC_000019.10:51976778:C:G
                            Gene:
                            ZNF350 (Varview), ZNF350-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490292782 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              19:51980448 (GRCh38)
                              19:52483701 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:51980447:T:G
                              Gene:
                              ZNF350 (Varview), ZNF350-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1490089019 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:51962089 (GRCh38)
                                19:52465342 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:51962088:C:T
                                Gene:
                                ZNF350-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1490059746 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  19:51964190 (GRCh38)
                                  19:52467443 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:51964189:A:C,NC_000019.10:51964189:A:G
                                  Gene:
                                  ZNF350 (Varview), ZNF350-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489948435 has merged into rs72177430 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTT>-,T,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    19:51966285 (GRCh38)
                                    19:52469538 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:51966281:TTTTTTTT:TTT,NC_000019.10:51966281:TTTTTTTT:TTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    ZNF350 (Varview), ZNF350-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTT=0./0 (ALFA)
                                    -=0.000008/2 (TOPMED)
                                    T=0.059498/109 (Korea1K)
                                    T=0.062112/1041 (TOMMO)
                                    T=0.067722/261 (ALSPAC)
                                    T=0.075/3 (GENOME_DK)
                                    T=0.07515/75 (GoNL)
                                    T=0.078479/291 (TWINSUK)
                                    T=0.123602/619 (1000Genomes)
                                    HGVS:
                                    NC_000019.10:g.51966285_51966289del, NC_000019.10:g.51966286_51966289del, NC_000019.10:g.51966289del, NC_000019.10:g.51966289dup, NC_000019.10:g.51966288_51966289dup, NC_000019.10:g.51966287_51966289dup, NC_000019.10:g.51966286_51966289dup, NC_000019.10:g.51966284_51966289dup, NC_000019.10:g.51966282_51966289dup, NC_000019.10:g.51966289_51966290insTTTTTTTTT, NC_000019.10:g.51966289_51966290insTTTTTTTTTT, NC_000019.10:g.51966289_51966290insTTTTTTTTTTTTTTTT, NC_000019.10:g.51966289_51966290insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.51966289_51966290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.52469538_52469542del, NC_000019.9:g.52469539_52469542del, NC_000019.9:g.52469542del, NC_000019.9:g.52469542dup, NC_000019.9:g.52469541_52469542dup, NC_000019.9:g.52469540_52469542dup, NC_000019.9:g.52469539_52469542dup, NC_000019.9:g.52469537_52469542dup, NC_000019.9:g.52469535_52469542dup, NC_000019.9:g.52469542_52469543insTTTTTTTTT, NC_000019.9:g.52469542_52469543insTTTTTTTTTT, NC_000019.9:g.52469542_52469543insTTTTTTTTTTTTTTTT, NC_000019.9:g.52469542_52469543insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.52469542_52469543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    18.

                                    rs1489819674 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      19:51947626 (GRCh38)
                                      19:52450879 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:51947625:A:G
                                      Gene:
                                      ZNF350-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000036/5 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489802110 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        19:51981195 (GRCh38)
                                        19:52484448 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:51981194:C:G,NC_000019.10:51981194:C:T
                                        Gene:
                                        ZNF350 (Varview), ZNF350-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.00005/1 (ALFA)
                                        T=0.00022/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1489385438 has merged into rs113694086 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          T>-,TT,TTT,TTTT,TTTTTTT [Show Flanks]
                                          Chromosome:
                                          19:51966645 (GRCh38)
                                          19:52469898 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:51966644:TT:T,NC_000019.10:51966644:TT:TTT,NC_000019.10:51966644:TT:TTTT,NC_000019.10:51966644:TT:TTTTT,NC_000019.10:51966644:TT:TTTTTTTT
                                          Gene:
                                          ZNF350 (Varview), ZNF350-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTT=0./0 (ALFA)
                                          -=0.11167/67 (NorthernSweden)
                                          -=0.2/8 (GENOME_DK)
                                          HGVS:

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