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Items: 1 to 20 of 718

1.

rs1490522759 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    20:63179018 (GRCh38)
    20:61810370 (GRCh37)
    Canonical SPDI:
    NC_000020.11:63179017:C:T
    Gene:
    MIR124-3 (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490005647 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      20:63177858 (GRCh38)
      20:61809210 (GRCh37)
      Canonical SPDI:
      NC_000020.11:63177857:C:A
      Gene:
      MIR124-3 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1489613760 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        20:63178741 (GRCh38)
        20:61810093 (GRCh37)
        Canonical SPDI:
        NC_000020.11:63178740:G:A,NC_000020.11:63178740:G:C
        Gene:
        MIR124-3 (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000011/3 (TOPMED)
        C=0.000014/2 (GnomAD)
        A=0.000156/1 (1000Genomes)
        HGVS:
        4.

        rs1488579738 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          20:63177565 (GRCh38)
          20:61808917 (GRCh37)
          Canonical SPDI:
          NC_000020.11:63177564:C:G
          Gene:
          MIR124-3 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1487923396 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            20:63176773 (GRCh38)
            20:61808125 (GRCh37)
            Canonical SPDI:
            NC_000020.11:63176772:A:G
            Gene:
            MIR124-3 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1486532283 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              20:63177936 (GRCh38)
              20:61809288 (GRCh37)
              Canonical SPDI:
              NC_000020.11:63177935:G:A
              Gene:
              MIR124-3 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000023/6 (TOPMED)
              A=0.000562/1 (Korea1K)
              HGVS:
              7.

              rs1484329071 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                20:63178340 (GRCh38)
                20:61809692 (GRCh37)
                Canonical SPDI:
                NC_000020.11:63178339:G:A
                Gene:
                MIR124-3 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                A=0.000035/1 (TOMMO)
                HGVS:
                8.

                rs1483278456 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  20:63177322 (GRCh38)
                  20:61808674 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:63177321:T:C
                  Gene:
                  MIR124-3 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1483002662 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    20:63176893 (GRCh38)
                    20:61808245 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:63176892:C:T
                    Gene:
                    MIR124-3 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    T=0.000342/1 (KOREAN)
                    HGVS:
                    10.

                    rs1482698001 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      20:63177576 (GRCh38)
                      20:61808928 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:63177575:C:A
                      Gene:
                      MIR124-3 (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)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1481385869 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        20:63179069 (GRCh38)
                        20:61810421 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:63179068:C:T
                        Gene:
                        MIR124-3 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1479646119 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          20:63177195 (GRCh38)
                          20:61808547 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:63177194:T:C
                          Gene:
                          MIR124-3 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1479558764 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C,T [Show Flanks]
                            Chromosome:
                            20:63178110 (GRCh38)
                            20:61809462 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:63178109:G:A,NC_000020.11:63178109:G:C,NC_000020.11:63178109:G:T
                            Gene:
                            MIR124-3 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1479505630 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              20:63177403 (GRCh38)
                              20:61808755 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:63177402:G:A
                              Gene:
                              MIR124-3 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1479208811 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                20:63178993 (GRCh38)
                                20:61810345 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:63178992:G:A,NC_000020.11:63178992:G:C
                                Gene:
                                MIR124-3 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1478657897 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  20:63178042 (GRCh38)
                                  20:61809394 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:63178041:C:A,NC_000020.11:63178041:C:T
                                  Gene:
                                  MIR124-3 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1478059627 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    20:63177600 (GRCh38)
                                    20:61808952 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:63177599:A:G
                                    Gene:
                                    MIR124-3 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000084/1 (ALFA)
                                    G=0.000122/17 (GnomAD)
                                    G=0.00017/45 (TOPMED)
                                    A=0.5/1 (SGDP_PRJ)
                                    HGVS:
                                    18.

                                    rs1478008697 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      20:63176767 (GRCh38)
                                      20:61808119 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:63176766:C:T
                                      Gene:
                                      MIR124-3 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1477404380 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        20:63176846 (GRCh38)
                                        20:61808198 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:63176845:G:C
                                        Gene:
                                        MIR124-3 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        G=0.5/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1476130937 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          20:63178818 (GRCh38)
                                          20:61810170 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:63178817:C:G,NC_000020.11:63178817:C:T
                                          Gene:
                                          MIR124-3 (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          G=0.000015/2 (GnomAD)
                                          HGVS:

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