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Items: 1 to 20 of 1035

1.

rs1488577430 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    19:53788426 (GRCh38)
    19:54291680 (GRCh37)
    Canonical SPDI:
    NC_000019.10:53788425:A:T
    Gene:
    MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
    Functional Consequence:
    2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1488057664 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:53787562 (GRCh38)
      19:54290816 (GRCh37)
      Canonical SPDI:
      NC_000019.10:53787561:G:A
      Gene:
      MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
      Functional Consequence:
      2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000029/4 (GnomAD)
      A=0.000049/13 (TOPMED)
      HGVS:
      3.

      rs1487511363 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        19:53787678 (GRCh38)
        19:54290932 (GRCh37)
        Canonical SPDI:
        NC_000019.10:53787677:G:A,NC_000019.10:53787677:G:T
        Gene:
        MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000019/5 (TOPMED)
        T=0.000043/6 (GnomAD)
        HGVS:
        4.

        rs1486584215 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          19:53788057 (GRCh38)
          19:54291311 (GRCh37)
          Canonical SPDI:
          NC_000019.10:53788056:G:T
          Gene:
          MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
          Functional Consequence:
          2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1486391132 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            19:53787478 (GRCh38)
            19:54290732 (GRCh37)
            Canonical SPDI:
            NC_000019.10:53787477:A:G
            Gene:
            MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
            Functional Consequence:
            2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1486026655 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AG>- [Show Flanks]
              Chromosome:
              19:53786797 (GRCh38)
              19:54290051 (GRCh37)
              Canonical SPDI:
              NC_000019.10:53786796:AG:
              Gene:
              MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), LOC124904767 (Varview)
              Functional Consequence:
              2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000011/3 (TOPMED)
              -=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1485320155 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                19:53788367 (GRCh38)
                19:54291621 (GRCh37)
                Canonical SPDI:
                NC_000019.10:53788366:G:A,NC_000019.10:53788366:G:C,NC_000019.10:53788366:G:T
                Gene:
                MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
                Functional Consequence:
                2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1485289460 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  G>- [Show Flanks]
                  Chromosome:
                  19:53788420 (GRCh38)
                  19:54291674 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:53788419:G:
                  Gene:
                  MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1485224185 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:53786518 (GRCh38)
                    19:54289772 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:53786517:A:G
                    Gene:
                    MIR371A (Varview), MIR372 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1485186975 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      19:53787214 (GRCh38)
                      19:54290468 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:53787213:T:C
                      Gene:
                      MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.00565/67 (ALFA)
                      C=0.00453/74 (TOMMO)
                      C=0.00479/14 (KOREAN)
                      C=0.0094/738 (GnomAD)
                      T=0.5/1 (SGDP_PRJ)
                      HGVS:
                      11.

                      rs1484097790 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AG>- [Show Flanks]
                        Chromosome:
                        19:53786891 (GRCh38)
                        19:54290145 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:53786887:GAGAG:GAG
                        Gene:
                        MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), LOC124904767 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GAG=0./0 (ALFA)
                        -=0.000008/2 (TOPMED)
                        -=0.000015/2 (GnomAD)
                        HGVS:
                        12.

                        rs1484057172 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ATTTTT>- [Show Flanks]
                          Chromosome:
                          19:53786079 (GRCh38)
                          19:54289333 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:53786076:TTATTTTT:TT
                          Gene:
                          MIR371A (Varview), MIR372 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TT=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1483223912 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->ATTA
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1481806212 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              19:53787070 (GRCh38)
                              19:54290324 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:53787069:T:A
                              Gene:
                              MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), LOC124904767 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,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:
                              15.

                              rs1481131237 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                19:53787932 (GRCh38)
                                19:54291186 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:53787931:A:G
                                Gene:
                                MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1480794990 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  19:53787686 (GRCh38)
                                  19:54290940 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:53787685:A:C
                                  Gene:
                                  MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1480603569 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:53786942 (GRCh38)
                                    19:54290196 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:53786941:C:T
                                    Gene:
                                    MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), LOC124904767 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1480369675 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      19:53788007 (GRCh38)
                                      19:54291261 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:53788006:C:G
                                      Gene:
                                      MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1476290583 has merged into rs376274287 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
                                        Chromosome:
                                        19:53787225 (GRCh38)
                                        19:54290479 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                                        Gene:
                                        MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTTTTTT=0./0 (ALFA)
                                        -=0.0667/257 (ALSPAC)
                                        -=0.275/1377 (1000Genomes)
                                        HGVS:
                                        NC_000019.10:g.53787225_53787230del, NC_000019.10:g.53787226_53787230del, NC_000019.10:g.53787227_53787230del, NC_000019.10:g.53787228_53787230del, NC_000019.10:g.53787229_53787230del, NC_000019.10:g.53787230del, NC_000019.10:g.53787230dup, NC_000019.10:g.53787229_53787230dup, NC_000019.10:g.53787228_53787230dup, NC_000019.10:g.53787227_53787230dup, NC_000019.10:g.53787224_53787230dup, NC_000019.9:g.54290479_54290484del, NC_000019.9:g.54290480_54290484del, NC_000019.9:g.54290481_54290484del, NC_000019.9:g.54290482_54290484del, NC_000019.9:g.54290483_54290484del, NC_000019.9:g.54290484del, NC_000019.9:g.54290484dup, NC_000019.9:g.54290483_54290484dup, NC_000019.9:g.54290482_54290484dup, NC_000019.9:g.54290481_54290484dup, NC_000019.9:g.54290478_54290484dup, XR_007067336.1:n.881_886del, XR_007067336.1:n.882_886del, XR_007067336.1:n.883_886del, XR_007067336.1:n.884_886del, XR_007067336.1:n.885_886del, XR_007067336.1:n.886del, XR_007067336.1:n.886dup, XR_007067336.1:n.885_886dup, XR_007067336.1:n.884_886dup, XR_007067336.1:n.883_886dup, XR_007067336.1:n.880_886dup
                                        20.

                                        rs1475946743 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,G [Show Flanks]
                                          Chromosome:
                                          19:53787061 (GRCh38)
                                          19:54290315 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:53787060:T:A,NC_000019.10:53787060:T:G
                                          Gene:
                                          MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), LOC124904767 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          HGVS:

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