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Items: 1 to 20 of 415

1.

rs1490888704 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    X:84227580 (GRCh38)
    X:83482588 (GRCh37)
    Canonical SPDI:
    NC_000023.11:84227579:G:A
    Gene:
    MIR548I4 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    A=0.00001/1 (GnomAD)
    HGVS:
    2.

    rs1490404543 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:84226975 (GRCh38)
      X:83481983 (GRCh37)
      Canonical SPDI:
      NC_000023.11:84226974:G:A
      Gene:
      MIR548I4 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000015/4 (TOPMED)
      A=0.001027/3 (KOREAN)
      HGVS:
      3.

      rs1489238075 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        X:84227414 (GRCh38)
        X:83482423 (GRCh37)
        Canonical SPDI:
        NC_000023.11:84227414:TT:TTT
        Gene:
        MIR548I4 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTT=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1487712676 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          X:84226797 (GRCh38)
          X:83481805 (GRCh37)
          Canonical SPDI:
          NC_000023.11:84226796:T:C
          Gene:
          MIR548I4 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          C=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1486885352 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            X:84225787 (GRCh38)
            X:83480795 (GRCh37)
            Canonical SPDI:
            NC_000023.11:84225786:T:C
            Gene:
            MIR548I4 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000447/2 (ALFA)
            C=0.00001/1 (GnomAD)
            HGVS:
            6.

            rs1486561806 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              X:84226982 (GRCh38)
              X:83481990 (GRCh37)
              Canonical SPDI:
              NC_000023.11:84226981:G:T
              Gene:
              MIR548I4 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.00001/1 (GnomAD)
              HGVS:
              7.

              rs1485760674 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                X:84225437 (GRCh38)
                X:83480445 (GRCh37)
                Canonical SPDI:
                NC_000023.11:84225436:C:T
                Gene:
                MIR548I4 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1485214980 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:84225760 (GRCh38)
                  X:83480768 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:84225759:G:A
                  Gene:
                  MIR548I4 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  HGVS:
                  9.

                  rs1483079572 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    X:84226520 (GRCh38)
                    X:83481528 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:84226519:T:C
                    Gene:
                    MIR548I4 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1482733588 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      X:84227790 (GRCh38)
                      X:83482798 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:84227789:GG:G
                      Gene:
                      MIR548I4 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GG=0./0 (ALFA)
                      -=0.00001/1 (GnomAD)
                      HGVS:
                      11.

                      rs1482544482 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        X:84226289 (GRCh38)
                        X:83481297 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:84226288:T:C
                        Gene:
                        MIR548I4 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000019/2 (GnomAD)
                        HGVS:
                        12.

                        rs1482208343 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:84227100 (GRCh38)
                          X:83482108 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:84227099:T:C
                          Gene:
                          MIR548I4 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1481864221 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            X:84226602 (GRCh38)
                            X:83481610 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:84226601:A:G
                            Gene:
                            MIR548I4 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.00001/1 (GnomAD)
                            HGVS:
                            14.

                            rs1481299861 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              X:84227693 (GRCh38)
                              X:83482701 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:84227692:C:A
                              Gene:
                              MIR548I4 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              C=0.5/1 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs1478737545 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                X:84227128 (GRCh38)
                                X:83482136 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:84227127:C:A
                                Gene:
                                MIR548I4 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.00001/1 (GnomAD)
                                HGVS:
                                16.

                                rs1470503387 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  X:84227559 (GRCh38)
                                  X:83482567 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:84227558:T:C
                                  Gene:
                                  MIR548I4 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1470461194 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:84226149 (GRCh38)
                                    X:83481157 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:84226148:T:C
                                    Gene:
                                    MIR548I4 (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:
                                    18.

                                    rs1467031204 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      X:84226792 (GRCh38)
                                      X:83481800 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:84226791:T:G
                                      Gene:
                                      MIR548I4 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1463812389 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:84226615 (GRCh38)
                                        X:83481623 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:84226614:C:T
                                        Gene:
                                        MIR548I4 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000045/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1463181978 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          X:84227200 (GRCh38)
                                          X:83482208 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:84227199:C:A
                                          Gene:
                                          MIR548I4 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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