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Items: 1 to 20 of 1000

1.

rs1491223767 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    9:66104045 (GRCh38)
    9:43084623 (GRCh37)
    Canonical SPDI:
    NC_000009.12:66104044:CA:
    Gene:
    ANKRD20A3P (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.03735/443 (ALFA)
    -=0.00419/42 (TOMMO)
    HGVS:
    2.

    rs1491221298 has merged into rs71255981 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAAAAAAA>-,AA,AAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      9:66104055 (GRCh38)
      9:43084633 (GRCh37)
      Canonical SPDI:
      NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      ANKRD20A3P (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAAAA=0./0 (ALFA)
      -=0.0853/92 (Korea1K)
      HGVS:
      3.

      rs1490989016 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        9:66128086 (GRCh38)
        9:43108664 (GRCh37)
        Canonical SPDI:
        NC_000009.12:66128085:G:
        Gene:
        ANKRD20A3P (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000017/1 (GnomAD)
        HGVS:
        4.

        rs1490975038 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:66154781 (GRCh38)
          9:43135359 (GRCh37)
          Canonical SPDI:
          NC_000009.12:66154780:G:A
          Gene:
          ANKRD20A3P (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490804494 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            9:66105840 (GRCh38)
            9:43086418 (GRCh37)
            Canonical SPDI:
            NC_000009.12:66105839:G:T
            Gene:
            ANKRD20A3P (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1490754436 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:66155145 (GRCh38)
              9:43135723 (GRCh37)
              Canonical SPDI:
              NC_000009.12:66155144:T:C
              Gene:
              ANKRD20A3P (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.00008/8 (GnomAD)
              HGVS:
              7.

              rs1490545753 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:66124824 (GRCh38)
                9:43105402 (GRCh37)
                Canonical SPDI:
                NC_000009.12:66124823:T:C
                Gene:
                ANKRD20A3P (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.00007/1 (ALFA)
                C=0.00004/1 (GnomAD)
                C=0.00004/1 (TOMMO)
                HGVS:
                8.

                rs1490526412 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:66153515 (GRCh38)
                  9:43134093 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:66153514:G:A
                  Gene:
                  ANKRD20A3P (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000169/2 (ALFA)
                  A=0.000044/6 (GnomAD)
                  A=0.000312/2 (1000Genomes)
                  HGVS:
                  9.

                  rs1490502489 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    9:66128771 (GRCh38)
                    9:43109349 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:66128770:C:G
                    Gene:
                    ANKRD20A3P (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.00002/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490486240 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:66153054 (GRCh38)
                      9:43133632 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:66153053:C:T
                      Gene:
                      ANKRD20A3P (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490446090 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        9:66128034 (GRCh38)
                        9:43108612 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:66128033:G:T
                        Gene:
                        ANKRD20A3P (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.00001/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490397431 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->TT [Show Flanks]
                          Chromosome:
                          9:66120939 (GRCh38)
                          9:43101518 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:66120939:TT:TTTT
                          Gene:
                          ANKRD20A3P (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency
                          MAF:
                          TT=0.000009/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490216126 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:66154347 (GRCh38)
                            9:43134925 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:66154346:G:A
                            Gene:
                            ANKRD20A3P (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.00088/15 (TOMMO)
                            A=0.0024/7 (KOREAN)
                            A=0.00274/5 (Korea1K)
                            HGVS:
                            14.

                            rs1490175728 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              9:66125636 (GRCh38)
                              9:43106214 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:66125635:G:A
                              Gene:
                              ANKRD20A3P (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.00008/1 (ALFA)
                              HGVS:
                              15.

                              rs1490069968 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                9:66127966 (GRCh38)
                                9:43108544 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:66127965:T:C,NC_000009.12:66127965:T:G
                                Gene:
                                ANKRD20A3P (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.00012/12 (GnomAD)
                                HGVS:
                                16.

                                rs1489957184 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  9:66129862 (GRCh38)
                                  9:43110440 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:66129861:A:G
                                  Gene:
                                  ANKRD20A3P (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.00002/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489911667 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    9:66147015 (GRCh38)
                                    9:43127593 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:66147014:A:G
                                    Gene:
                                    ANKRD20A3P (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000084/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000106/3 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1489907958 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      9:66123289 (GRCh38)
                                      9:43103867 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:66123288:A:G,NC_000009.12:66123288:A:T
                                      Gene:
                                      ANKRD20A3P (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.00011/2 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1489831703 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:66152707 (GRCh38)
                                        9:43133285 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:66152706:C:T
                                        Gene:
                                        ANKRD20A3P (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000015/4 (TOPMED)
                                        T=0.00003/4 (GnomAD)
                                        T=0.000086/7 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1489702543 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:66129622 (GRCh38)
                                          9:43110200 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:66129621:A:G
                                          Gene:
                                          ANKRD20A3P (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.00001/1 (GnomAD)
                                          HGVS:

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