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Items: 1 to 20 of 742

1.

rs1490138057 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    8:64378645 (GRCh38)
    8:65291202 (GRCh37)
    Canonical SPDI:
    NC_000008.11:64378644:G:A
    Gene:
    MIR124-2 (Varview), MIR124-2HG (Varview)
    Functional Consequence:
    2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1489818765 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      8:64378116 (GRCh38)
      8:65290673 (GRCh37)
      Canonical SPDI:
      NC_000008.11:64378115:G:A
      Gene:
      MIR124-2 (Varview), MIR124-2HG (Varview)
      Functional Consequence:
      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.0001/1 (ALFA)
      HGVS:
      3.

      rs1489107671 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        8:64378250 (GRCh38)
        8:65290807 (GRCh37)
        Canonical SPDI:
        NC_000008.11:64378249:C:T
        Gene:
        MIR124-2 (Varview), MIR124-2HG (Varview)
        Functional Consequence:
        2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1489048588 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          8:64377292 (GRCh38)
          8:65289849 (GRCh37)
          Canonical SPDI:
          NC_000008.11:64377291:G:A
          Gene:
          MIR124-2 (Varview), MIR124-2HG (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1488300519 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            8:64377350 (GRCh38)
            8:65289908 (GRCh37)
            Canonical SPDI:
            NC_000008.11:64377350:CC:CCC
            Gene:
            MIR124-2 (Varview), MIR124-2HG (Varview)
            Functional Consequence:
            2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCC=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1487825085 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              8:64378039 (GRCh38)
              8:65290596 (GRCh37)
              Canonical SPDI:
              NC_000008.11:64378038:G:T
              Gene:
              MIR124-2 (Varview), MIR124-2HG (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,upstream_transcript_variant
              HGVS:
              7.

              rs1485779699 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                8:64378821 (GRCh38)
                8:65291378 (GRCh37)
                Canonical SPDI:
                NC_000008.11:64378820:C:T
                Gene:
                MIR124-2 (Varview), MIR124-2HG (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000021/3 (GnomAD)
                T=0.000023/6 (TOPMED)
                HGVS:
                8.

                rs1483375115 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:64377566 (GRCh38)
                  8:65290123 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:64377565:C:T
                  Gene:
                  MIR124-2 (Varview), MIR124-2HG (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000039/5 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1482293971 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    8:64377892 (GRCh38)
                    8:65290449 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:64377891:G:A
                    Gene:
                    MIR124-2 (Varview), MIR124-2HG (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1481617455 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      8:64379687 (GRCh38)
                      8:65292244 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:64379686:A:G
                      Gene:
                      MIR124-2 (Varview), MIR124-2HG (Varview)
                      Functional Consequence:
                      500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1481357462 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        8:64378560 (GRCh38)
                        8:65291117 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:64378559:A:C
                        Gene:
                        MIR124-2 (Varview), MIR124-2HG (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,non_coding_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:
                        12.

                        rs1480084965 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          8:64378743 (GRCh38)
                          8:65291300 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:64378742:A:C
                          Gene:
                          MIR124-2 (Varview), MIR124-2HG (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1479860418 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:64378083 (GRCh38)
                            8:65290640 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:64378082:A:G
                            Gene:
                            MIR124-2 (Varview), MIR124-2HG (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1479425768 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:64378060 (GRCh38)
                              8:65290617 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:64378059:G:A
                              Gene:
                              MIR124-2 (Varview), MIR124-2HG (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              HGVS:
                              15.

                              rs1479097043 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                8:64379237 (GRCh38)
                                8:65291794 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:64379236:G:T
                                Gene:
                                MIR124-2 (Varview), MIR124-2HG (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1478463285 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  8:64377705 (GRCh38)
                                  8:65290262 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:64377704:G:A
                                  Gene:
                                  MIR124-2 (Varview), MIR124-2HG (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  A=0.00003/8 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1478126470 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    8:64378087 (GRCh38)
                                    8:65290644 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:64378086:C:A
                                    Gene:
                                    MIR124-2 (Varview), MIR124-2HG (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1478026156 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      8:64378953 (GRCh38)
                                      8:65291510 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:64378952:A:G,NC_000008.11:64378952:A:T
                                      Gene:
                                      MIR124-2 (Varview), MIR124-2HG (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000066/1 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000223/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1477657775 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        8:64377912 (GRCh38)
                                        8:65290469 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:64377911:G:A
                                        Gene:
                                        MIR124-2 (Varview), MIR124-2HG (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1474695074 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          8:64377802 (GRCh38)
                                          8:65290359 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:64377801:T:G
                                          Gene:
                                          MIR124-2 (Varview), MIR124-2HG (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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