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Items: 1 to 20 of 861

1.

rs1491255831 has merged into rs59277153 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    10:96750931 (GRCh38)
    10:98510688 (GRCh37)
    Canonical SPDI:
    NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750923:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    RPL13AP5 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAA=0./0 (ALFA)
    -=0.225/9 (GENOME_DK)
    HGVS:
    NC_000010.11:g.96750931_96750949del, NC_000010.11:g.96750932_96750949del, NC_000010.11:g.96750933_96750949del, NC_000010.11:g.96750934_96750949del, NC_000010.11:g.96750935_96750949del, NC_000010.11:g.96750937_96750949del, NC_000010.11:g.96750938_96750949del, NC_000010.11:g.96750939_96750949del, NC_000010.11:g.96750940_96750949del, NC_000010.11:g.96750941_96750949del, NC_000010.11:g.96750942_96750949del, NC_000010.11:g.96750943_96750949del, NC_000010.11:g.96750944_96750949del, NC_000010.11:g.96750945_96750949del, NC_000010.11:g.96750946_96750949del, NC_000010.11:g.96750947_96750949del, NC_000010.11:g.96750948_96750949del, NC_000010.11:g.96750949del, NC_000010.11:g.96750949dup, NC_000010.11:g.96750948_96750949dup, NC_000010.11:g.96750947_96750949dup, NC_000010.11:g.96750946_96750949dup, NC_000010.11:g.96750945_96750949dup, NC_000010.11:g.96750944_96750949dup, NC_000010.11:g.96750943_96750949dup, NC_000010.11:g.96750942_96750949dup, NC_000010.11:g.96750941_96750949dup, NC_000010.11:g.96750940_96750949dup, NC_000010.11:g.96750935_96750949dup, NC_000010.11:g.96750934_96750949dup, NC_000010.11:g.96750933_96750949dup, NC_000010.11:g.96750932_96750949dup, NC_000010.11:g.96750931_96750949dup, NC_000010.11:g.96750930_96750949dup, NC_000010.11:g.96750949_96750950insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96750924_96750949A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.98510688_98510706del, NC_000010.10:g.98510689_98510706del, NC_000010.10:g.98510690_98510706del, NC_000010.10:g.98510691_98510706del, NC_000010.10:g.98510692_98510706del, NC_000010.10:g.98510694_98510706del, NC_000010.10:g.98510695_98510706del, NC_000010.10:g.98510696_98510706del, NC_000010.10:g.98510697_98510706del, NC_000010.10:g.98510698_98510706del, NC_000010.10:g.98510699_98510706del, NC_000010.10:g.98510700_98510706del, NC_000010.10:g.98510701_98510706del, NC_000010.10:g.98510702_98510706del, NC_000010.10:g.98510703_98510706del, NC_000010.10:g.98510704_98510706del, NC_000010.10:g.98510705_98510706del, NC_000010.10:g.98510706del, NC_000010.10:g.98510706dup, NC_000010.10:g.98510705_98510706dup, NC_000010.10:g.98510704_98510706dup, NC_000010.10:g.98510703_98510706dup, NC_000010.10:g.98510702_98510706dup, NC_000010.10:g.98510701_98510706dup, NC_000010.10:g.98510700_98510706dup, NC_000010.10:g.98510699_98510706dup, NC_000010.10:g.98510698_98510706dup, NC_000010.10:g.98510697_98510706dup, NC_000010.10:g.98510692_98510706dup, NC_000010.10:g.98510691_98510706dup, NC_000010.10:g.98510690_98510706dup, NC_000010.10:g.98510689_98510706dup, NC_000010.10:g.98510688_98510706dup, NC_000010.10:g.98510687_98510706dup, NC_000010.10:g.98510706_98510707insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98510681_98510706A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
    2.

    rs1491101184 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      10:96750923 (GRCh38)
      10:98510680 (GRCh37)
      Canonical SPDI:
      NC_000010.11:96750922:TA:
      Gene:
      RPL13AP5 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1490903278 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:96750345 (GRCh38)
        10:98510102 (GRCh37)
        Canonical SPDI:
        NC_000010.11:96750344:G:A
        Gene:
        RPL13AP5 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490412598 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:96751015 (GRCh38)
          10:98510772 (GRCh37)
          Canonical SPDI:
          NC_000010.11:96751014:A:G
          Gene:
          RPL13AP5 (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000084/1 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490396860 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            10:96749274 (GRCh38)
            10:98509031 (GRCh37)
            Canonical SPDI:
            NC_000010.11:96749273:A:G
            Gene:
            RPL13AP5 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000066/1 (ALFA)
            G=0.000014/2 (GnomAD)
            G=0.000156/1 (1000Genomes)
            G=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1489149592 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              10:96750453 (GRCh38)
              10:98510210 (GRCh37)
              Canonical SPDI:
              NC_000010.11:96750452:G:C
              Gene:
              RPL13AP5 (Varview)
              Functional Consequence:
              non_coding_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:
              7.

              rs1487093856 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,G [Show Flanks]
                Chromosome:
                10:96749844 (GRCh38)
                10:98509601 (GRCh37)
                Canonical SPDI:
                NC_000010.11:96749843:T:A,NC_000010.11:96749843:T:G
                Gene:
                RPL13AP5 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1485993627 has merged into rs67243439 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  10:96749077 (GRCh38)
                  10:98508834 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96749069:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  RPL13AP5 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAA=0./0 (ALFA)
                  HGVS:
                  NC_000010.11:g.96749077_96749086del, NC_000010.11:g.96749079_96749086del, NC_000010.11:g.96749080_96749086del, NC_000010.11:g.96749081_96749086del, NC_000010.11:g.96749082_96749086del, NC_000010.11:g.96749083_96749086del, NC_000010.11:g.96749084_96749086del, NC_000010.11:g.96749085_96749086del, NC_000010.11:g.96749086del, NC_000010.11:g.96749086dup, NC_000010.11:g.96749085_96749086dup, NC_000010.11:g.96749084_96749086dup, NC_000010.11:g.96749083_96749086dup, NC_000010.11:g.96749082_96749086dup, NC_000010.11:g.96749081_96749086dup, NC_000010.11:g.96749080_96749086dup, NC_000010.11:g.96749079_96749086dup, NC_000010.11:g.96749078_96749086dup, NC_000010.11:g.96749077_96749086dup, NC_000010.11:g.96749076_96749086dup, NC_000010.11:g.96749075_96749086dup, NC_000010.11:g.96749074_96749086dup, NC_000010.11:g.96749072_96749086dup, NC_000010.11:g.96749071_96749086dup, NC_000010.11:g.96749070_96749086dup, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.96749086_96749087insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508834_98508843del, NC_000010.10:g.98508836_98508843del, NC_000010.10:g.98508837_98508843del, NC_000010.10:g.98508838_98508843del, NC_000010.10:g.98508839_98508843del, NC_000010.10:g.98508840_98508843del, NC_000010.10:g.98508841_98508843del, NC_000010.10:g.98508842_98508843del, NC_000010.10:g.98508843del, NC_000010.10:g.98508843dup, NC_000010.10:g.98508842_98508843dup, NC_000010.10:g.98508841_98508843dup, NC_000010.10:g.98508840_98508843dup, NC_000010.10:g.98508839_98508843dup, NC_000010.10:g.98508838_98508843dup, NC_000010.10:g.98508837_98508843dup, NC_000010.10:g.98508836_98508843dup, NC_000010.10:g.98508835_98508843dup, NC_000010.10:g.98508834_98508843dup, NC_000010.10:g.98508833_98508843dup, NC_000010.10:g.98508832_98508843dup, NC_000010.10:g.98508831_98508843dup, NC_000010.10:g.98508829_98508843dup, NC_000010.10:g.98508828_98508843dup, NC_000010.10:g.98508827_98508843dup, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.98508843_98508844insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  9.

                  rs1485880559 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    10:96749908 (GRCh38)
                    10:98509665 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:96749907:G:A,NC_000010.11:96749907:G:C
                    Gene:
                    RPL13AP5 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    A=0.000312/2 (1000Genomes)
                    HGVS:
                    10.

                    rs1485438135 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:96751113 (GRCh38)
                      10:98510870 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:96751112:T:C
                      Gene:
                      RPL13AP5 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1485235070 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AGAAAAGAAA>-,AGAAA,AGAAAAGAAAAGAAA [Show Flanks]
                        Chromosome:
                        10:96749086 (GRCh38)
                        10:98508843 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:96749082:AAAAGAAAAGAAA:AAA,NC_000010.11:96749082:AAAAGAAAAGAAA:AAAAGAAA,NC_000010.11:96749082:AAAAGAAAAGAAA:AAAAGAAAAGAAAAGAAA
                        Gene:
                        RPL13AP5 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAGAAA=0.00012/2 (ALFA)
                        HGVS:
                        12.

                        rs1484340713 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:96750549 (GRCh38)
                          10:98510306 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:96750548:C:T
                          Gene:
                          RPL13AP5 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000015/4 (TOPMED)
                          T=0.000546/1 (Korea1K)
                          HGVS:
                          13.

                          rs1483545785 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:96750642 (GRCh38)
                            10:98510399 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:96750641:G:A
                            Gene:
                            RPL13AP5 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1483441992 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              10:96751263 (GRCh38)
                              10:98511020 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:96751262:C:G
                              Gene:
                              RPL13AP5 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1482889232 has merged into rs554396325 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                10:96750114 (GRCh38)
                                10:98509871 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:96750105:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                RPL13AP5 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAA=0./0 (ALFA)
                                -=0.1599/801 (1000Genomes)
                                HGVS:
                                NC_000010.11:g.96750114_96750120del, NC_000010.11:g.96750117_96750120del, NC_000010.11:g.96750118_96750120del, NC_000010.11:g.96750119_96750120del, NC_000010.11:g.96750120del, NC_000010.11:g.96750120dup, NC_000010.11:g.96750119_96750120dup, NC_000010.11:g.96750118_96750120dup, NC_000010.11:g.96750117_96750120dup, NC_000010.11:g.96750116_96750120dup, NC_000010.11:g.96750115_96750120dup, NC_000010.11:g.96750114_96750120dup, NC_000010.11:g.96750113_96750120dup, NC_000010.11:g.96750112_96750120dup, NC_000010.11:g.96750111_96750120dup, NC_000010.11:g.96750108_96750120dup, NC_000010.10:g.98509871_98509877del, NC_000010.10:g.98509874_98509877del, NC_000010.10:g.98509875_98509877del, NC_000010.10:g.98509876_98509877del, NC_000010.10:g.98509877del, NC_000010.10:g.98509877dup, NC_000010.10:g.98509876_98509877dup, NC_000010.10:g.98509875_98509877dup, NC_000010.10:g.98509874_98509877dup, NC_000010.10:g.98509873_98509877dup, NC_000010.10:g.98509872_98509877dup, NC_000010.10:g.98509871_98509877dup, NC_000010.10:g.98509870_98509877dup, NC_000010.10:g.98509869_98509877dup, NC_000010.10:g.98509868_98509877dup, NC_000010.10:g.98509865_98509877dup
                                16.

                                rs1481905701 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  10:96750378 (GRCh38)
                                  10:98510135 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:96750377:C:T
                                  Gene:
                                  RPL13AP5 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1481471129 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    10:96749139 (GRCh38)
                                    10:98508896 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:96749138:T:C
                                    Gene:
                                    RPL13AP5 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000015/4 (TOPMED)
                                    C=0.000022/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1480627168 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      10:96751378 (GRCh38)
                                      10:98511135 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:96751377:G:A
                                      Gene:
                                      RPL13AP5 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1480562263 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GAAAAGAAAGAAAAAA>- [Show Flanks]
                                        Chromosome:
                                        10:96749087 (GRCh38)
                                        10:98508844 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:96749080:AAAAAAGAAAAGAAAGAAAAAA:AAAAAA
                                        Gene:
                                        RPL13AP5 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAA=0.000422/5 (ALFA)
                                        -=0.000683/93 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1479749504 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:96750436 (GRCh38)
                                          10:98510193 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:96750435:A:G
                                          Gene:
                                          RPL13AP5 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          HGVS:

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