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Items: 1 to 20 of 566

1.

rs1490634547 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    1:168375014 (GRCh38)
    1:168344252 (GRCh37)
    Canonical SPDI:
    NC_000001.11:168375013:C:G
    Gene:
    MIR557 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000026/7 (TOPMED)
    G=0.000029/4 (GnomAD)
    HGVS:
    2.

    rs1488406933 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:168375445 (GRCh38)
      1:168344683 (GRCh37)
      Canonical SPDI:
      NC_000001.11:168375444:G:A
      Gene:
      MIR557 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000756/14 (ALFA)
      A=0.000019/5 (TOPMED)
      A=0.000086/12 (GnomAD)
      A=0.003125/14 (Estonian)
      HGVS:
      3.

      rs1487469462 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        1:168375708 (GRCh38)
        1:168344946 (GRCh37)
        Canonical SPDI:
        NC_000001.11:168375707:G:T
        Gene:
        MIR557 (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:
        4.

        rs1485502983 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          1:168374594 (GRCh38)
          1:168343832 (GRCh37)
          Canonical SPDI:
          NC_000001.11:168374593:A:T
          Gene:
          MIR557 (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:
          5.

          rs1485454447 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:168373627 (GRCh38)
            1:168342865 (GRCh37)
            Canonical SPDI:
            NC_000001.11:168373626:A:G
            Gene:
            MIR557 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1482401880 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:168374745 (GRCh38)
              1:168343983 (GRCh37)
              Canonical SPDI:
              NC_000001.11:168374744:G:A
              Gene:
              MIR557 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1481201680 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:168375693 (GRCh38)
                1:168344931 (GRCh37)
                Canonical SPDI:
                NC_000001.11:168375692:T:C
                Gene:
                MIR557 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1479950902 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  1:168374967 (GRCh38)
                  1:168344205 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:168374966:C:A,NC_000001.11:168374966:C:T
                  Gene:
                  MIR557 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000035/1 (TOMMO)
                  T=0.000057/15 (TOPMED)
                  T=0.000078/11 (GnomAD)
                  T=0.000684/2 (KOREAN)
                  HGVS:
                  9.

                  rs1478591461 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    1:168374112 (GRCh38)
                    1:168343350 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:168374111:C:A
                    Gene:
                    MIR557 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1478466421 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      1:168375120 (GRCh38)
                      1:168344358 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:168375119:G:A,NC_000001.11:168375119:G:C
                      Gene:
                      MIR557 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1477977747 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        A>- [Show Flanks]
                        Chromosome:
                        1:168375621 (GRCh38)
                        1:168344859 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:168375620:A:
                        Gene:
                        MIR557 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        -=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1476626960 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:168375273 (GRCh38)
                          1:168344511 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:168375272:G:A
                          Gene:
                          MIR557 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          A=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1476497652 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:168374080 (GRCh38)
                            1:168343318 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:168374079:T:C
                            Gene:
                            MIR557 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1472716872 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:168375588 (GRCh38)
                              1:168344826 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:168375587:G:A
                              Gene:
                              MIR557 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1472388185 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:168374985 (GRCh38)
                                1:168344223 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:168374984:C:T
                                Gene:
                                MIR557 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1470249537 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:168374264 (GRCh38)
                                  1:168343502 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:168374263:G:A
                                  Gene:
                                  MIR557 (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:
                                  17.

                                  rs1469645852 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    1:168373705 (GRCh38)
                                    1:168342943 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:168373704:G:C
                                    Gene:
                                    MIR557 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1466998931 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      1:168376099 (GRCh38)
                                      1:168345337 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:168376098:C:A
                                      Gene:
                                      MIR557 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1465969759 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:168374856 (GRCh38)
                                        1:168344094 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:168374855:G:A
                                        Gene:
                                        MIR557 (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:
                                        20.

                                        rs1464255341 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:168374632 (GRCh38)
                                          1:168343870 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:168374631:A:G
                                          Gene:
                                          MIR557 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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