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Items: 1 to 20 of 951

1.

rs1490747948 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    4:9555845 (GRCh38)
    4:9557466 (GRCh37)
    Canonical SPDI:
    NC_000004.12:9555844:C:T
    Gene:
    MIR548I2 (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490595515 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      4:9556650 (GRCh38)
      4:9558271 (GRCh37)
      Canonical SPDI:
      NC_000004.12:9556649:A:C,NC_000004.12:9556649:A:G
      Gene:
      MIR548I2 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      HGVS:
      3.

      rs1489853295 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        4:9557433 (GRCh38)
        4:9559054 (GRCh37)
        Canonical SPDI:
        NC_000004.12:9557432:A:T
        Gene:
        MIR548I2 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000019/5 (TOPMED)
        T=0.000036/5 (GnomAD)
        HGVS:
        4.

        rs1489441866 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          T>- [Show Flanks]
          Chromosome:
          4:9557172 (GRCh38)
          4:9558793 (GRCh37)
          Canonical SPDI:
          NC_000004.12:9557171:T:
          Gene:
          MIR548I2 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:
          5.

          rs1487918352 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            4:9557358 (GRCh38)
            4:9558979 (GRCh37)
            Canonical SPDI:
            NC_000004.12:9557357:G:C
            Gene:
            MIR548I2 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1487845232 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              4:9557765 (GRCh38)
              4:9559386 (GRCh37)
              Canonical SPDI:
              NC_000004.12:9557764:C:T
              Gene:
              MIR548I2 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1487629233 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:9558200 (GRCh38)
                4:9559821 (GRCh37)
                Canonical SPDI:
                NC_000004.12:9558199:A:G
                Gene:
                MIR548I2 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1486989262 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  4:9556602 (GRCh38)
                  4:9558223 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:9556601:T:A
                  Gene:
                  MIR548I2 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1486709186 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    4:9555775 (GRCh38)
                    4:9557396 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:9555774:A:C,NC_000004.12:9555774:A:G
                    Gene:
                    MIR548I2 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1485883993 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:9558249 (GRCh38)
                      4:9559870 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:9558248:A:G
                      Gene:
                      MIR548I2 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000011/3 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1485664832 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G,T [Show Flanks]
                        Chromosome:
                        4:9556676 (GRCh38)
                        4:9558297 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:9556675:A:C,NC_000004.12:9556675:A:G,NC_000004.12:9556675:A:T
                        Gene:
                        MIR548I2 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1484742958 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          4:9556832 (GRCh38)
                          4:9558453 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:9556831:G:A,NC_000004.12:9556831:G:T
                          Gene:
                          MIR548I2 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.00055/1 (Korea1K)
                          HGVS:
                          13.

                          rs1482910915 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            4:9557517 (GRCh38)
                            4:9559138 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:9557516:C:A,NC_000004.12:9557516:C:G
                            Gene:
                            MIR548I2 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1481201751 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              4:9555895 (GRCh38)
                              4:9557516 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:9555894:G:A
                              Gene:
                              MIR548I2 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1479346148 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                4:9557240 (GRCh38)
                                4:9558862 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:9557240:C:CC
                                Gene:
                                MIR548I2 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CC=0./0 (ALFA)
                                C=0.000034/9 (TOPMED)
                                C=0.000156/1 (1000Genomes)
                                HGVS:
                                16.

                                rs1479271095 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  4:9556941 (GRCh38)
                                  4:9558562 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:9556940:G:C
                                  Gene:
                                  MIR548I2 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1478801812 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    4:9555973 (GRCh38)
                                    4:9557594 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:9555972:A:G
                                    Gene:
                                    MIR548I2 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000015/4 (TOPMED)
                                    G=0.000021/3 (GnomAD)
                                    G=0.000035/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1478731324 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AG>- [Show Flanks]
                                      Chromosome:
                                      4:9557127 (GRCh38)
                                      4:9558748 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:9557124:AGAG:AG
                                      Gene:
                                      MIR548I2 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AGAG=0./0 (ALFA)
                                      -=0.000011/3 (TOPMED)
                                      -=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1477029863 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        4:9558060 (GRCh38)
                                        4:9559681 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:9558059:T:C
                                        Gene:
                                        MIR548I2 (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=0.000026/7 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1476756606 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          4:9558306 (GRCh38)
                                          4:9559927 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:9558305:T:A
                                          Gene:
                                          MIR548I2 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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