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Items: 1 to 20 of 2052

1.

rs1491128836 has merged into rs1005479509 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    5:180833488 (GRCh38)
    5:180260488 (GRCh37)
    Canonical SPDI:
    NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:180833478:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000005.10:g.180833488_180833497del, NC_000005.10:g.180833490_180833497del, NC_000005.10:g.180833491_180833497del, NC_000005.10:g.180833492_180833497del, NC_000005.10:g.180833493_180833497del, NC_000005.10:g.180833494_180833497del, NC_000005.10:g.180833495_180833497del, NC_000005.10:g.180833496_180833497del, NC_000005.10:g.180833497del, NC_000005.10:g.180833497dup, NC_000005.10:g.180833496_180833497dup, NC_000005.10:g.180833495_180833497dup, NC_000005.10:g.180833493_180833497dup, NC_000005.9:g.180260488_180260497del, NC_000005.9:g.180260490_180260497del, NC_000005.9:g.180260491_180260497del, NC_000005.9:g.180260492_180260497del, NC_000005.9:g.180260493_180260497del, NC_000005.9:g.180260494_180260497del, NC_000005.9:g.180260495_180260497del, NC_000005.9:g.180260496_180260497del, NC_000005.9:g.180260497del, NC_000005.9:g.180260497dup, NC_000005.9:g.180260496_180260497dup, NC_000005.9:g.180260495_180260497dup, NC_000005.9:g.180260493_180260497dup
    2.

    rs1490743415 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      5:180835702 (GRCh38)
      5:180262702 (GRCh37)
      Canonical SPDI:
      NC_000005.10:180835701:T:A
      Gene:
      ZFP62 (Varview), LINC00847 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000029/4 (GnomAD)
      A=0.000034/9 (TOPMED)
      HGVS:
      3.

      rs1488487711 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        5:180833479 (GRCh38)
        5:180260479 (GRCh37)
        Canonical SPDI:
        NC_000005.10:180833478:A:C
        Gene:
        ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1488162129 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          5:180833173 (GRCh38)
          5:180260173 (GRCh37)
          Canonical SPDI:
          NC_000005.10:180833172:G:A
          Gene:
          ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1486976672 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            5:180834206 (GRCh38)
            5:180261206 (GRCh37)
            Canonical SPDI:
            NC_000005.10:180834205:T:C
            Gene:
            ZFP62 (Varview), LINC00847 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1486945710 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              5:180835368 (GRCh38)
              5:180262368 (GRCh37)
              Canonical SPDI:
              NC_000005.10:180835367:T:G
              Gene:
              ZFP62 (Varview), LINC00847 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000214/3 (ALFA)
              G=0.000021/3 (GnomAD)
              G=0.000045/12 (TOPMED)
              HGVS:
              7.

              rs1486886909 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                5:180832093 (GRCh38)
                5:180259093 (GRCh37)
                Canonical SPDI:
                NC_000005.10:180832092:A:G
                Gene:
                ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000017/2 (GnomAD)
                HGVS:
                8.

                rs1486574763 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->A [Show Flanks]
                  Chromosome:
                  5:180829196 (GRCh38)
                  5:180256197 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:180829196::A
                  Gene:
                  ZFP62 (Varview), LINC00847 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1486521382 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    5:180832688 (GRCh38)
                    5:180259688 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:180832687:G:A
                    Gene:
                    ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000014/2 (GnomAD)
                    A=0.000023/6 (TOPMED)
                    HGVS:
                    10.

                    rs1486447536 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      5:180830744 (GRCh38)
                      5:180257744 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:180830743:A:G
                      Gene:
                      ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      G=0.00005/7 (GnomAD)
                      HGVS:
                      11.

                      rs1486371272 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        5:180832294 (GRCh38)
                        5:180259294 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:180832293:A:G
                        Gene:
                        ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1486120950 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          5:180831434 (GRCh38)
                          5:180258434 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:180831433:G:C,NC_000005.10:180831433:G:T
                          Gene:
                          ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1485935853 has merged into rs3029538 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
                            Chromosome:
                            5:180831427 (GRCh38)
                            5:180258427 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:180831415:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
                            Gene:
                            ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTTTTT=0./0 (ALFA)
                            TTT=0.025/1 (GENOME_DK)
                            TTT=0.05529/205 (TWINSUK)
                            TTT=0.07628/294 (ALSPAC)
                            HGVS:
                            NC_000005.10:g.180831427_180831428del, NC_000005.10:g.180831428del, NC_000005.10:g.180831428dup, NC_000005.10:g.180831427_180831428dup, NC_000005.10:g.180831426_180831428dup, NC_000005.10:g.180831425_180831428dup, NC_000005.10:g.180831424_180831428dup, NC_000005.9:g.180258427_180258428del, NC_000005.9:g.180258428del, NC_000005.9:g.180258428dup, NC_000005.9:g.180258427_180258428dup, NC_000005.9:g.180258426_180258428dup, NC_000005.9:g.180258425_180258428dup, NC_000005.9:g.180258424_180258428dup, XR_007058622.1:n.202_203del, XR_007058622.1:n.203del, XR_007058622.1:n.203dup, XR_007058622.1:n.202_203dup, XR_007058622.1:n.201_203dup, XR_007058622.1:n.200_203dup, XR_007058622.1:n.199_203dup, XR_007058623.1:n.202_203del, XR_007058623.1:n.203del, XR_007058623.1:n.203dup, XR_007058623.1:n.202_203dup, XR_007058623.1:n.201_203dup, XR_007058623.1:n.200_203dup, XR_007058623.1:n.199_203dup, NR_045680.1:n.202_203del, NR_045680.1:n.203del, NR_045680.1:n.203dup, NR_045680.1:n.202_203dup, NR_045680.1:n.201_203dup, NR_045680.1:n.200_203dup, NR_045680.1:n.199_203dup
                            14.

                            rs1485875946 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              G>- [Show Flanks]
                              Chromosome:
                              5:180831835 (GRCh38)
                              5:180258835 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:180831834:GG:G
                              Gene:
                              ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GG=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000023/6 (TOPMED)
                              HGVS:
                              15.

                              rs1485018128 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                5:180833558 (GRCh38)
                                5:180260558 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:180833557:A:G
                                Gene:
                                ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1483967528 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  5:180829289 (GRCh38)
                                  5:180256289 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:180829288:G:A
                                  Gene:
                                  ZFP62 (Varview), LINC00847 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483910830 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    5:180831433 (GRCh38)
                                    5:180258433 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:180831432:C:T
                                    Gene:
                                    ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1483185880 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:180835485 (GRCh38)
                                      5:180262485 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:180835484:A:G
                                      Gene:
                                      ZFP62 (Varview), LINC00847 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1482964529 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        5:180835912 (GRCh38)
                                        5:180262912 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:180835911:A:G
                                        Gene:
                                        ZFP62 (Varview), LINC00847 (Varview)
                                        Functional Consequence:
                                        intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482881197 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          5:180836108 (GRCh38)
                                          5:180263108 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:180836107:G:A
                                          Gene:
                                          ZFP62 (Varview), LINC00847 (Varview)
                                          Functional Consequence:
                                          intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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