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Links from Nucleotide

Items: 12

1.

rs1445202784 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:95308492 (GRCh38)
    12:95702268 (GRCh37)
    Canonical SPDI:
    NC_000012.12:95308491:A:G
    Gene:
    MIR331 (Varview), MIR3685 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000028/1 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    G=0.000015/3 (GnomAD_exomes)
    HGVS:
    2.

    rs1441645779 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      12:95308445 (GRCh38)
      12:95702221 (GRCh37)
      Canonical SPDI:
      NC_000012.12:95308444:C:G
      Gene:
      MIR331 (Varview), MIR3685 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1353444947 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:95308475 (GRCh38)
        12:95702251 (GRCh37)
        Canonical SPDI:
        NC_000012.12:95308474:A:G
        Gene:
        MIR331 (Varview), MIR3685 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000066/1 (ALFA)
        G=0.000014/2 (GnomAD)
        G=0.000223/1 (Estonian)
        HGVS:
        4.

        rs1348663338 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          12:95308458 (GRCh38)
          12:95702234 (GRCh37)
          Canonical SPDI:
          NC_000012.12:95308457:C:T
          Gene:
          MIR331 (Varview), MIR3685 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1250886813 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            12:95308427 (GRCh38)
            12:95702203 (GRCh37)
            Canonical SPDI:
            NC_000012.12:95308426:G:A
            Gene:
            MIR331 (Varview), MIR3685 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
            HGVS:
            6.

            rs1167387371 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              12:95308501 (GRCh38)
              12:95702277 (GRCh37)
              Canonical SPDI:
              NC_000012.12:95308500:C:A
              Gene:
              MIR331 (Varview), MIR3685 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1022284453 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                12:95308457 (GRCh38)
                12:95702233 (GRCh37)
                Canonical SPDI:
                NC_000012.12:95308456:C:T
                Gene:
                MIR331 (Varview), MIR3685 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1012351670 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:95308420 (GRCh38)
                  12:95702196 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:95308419:G:A
                  Gene:
                  MIR331 (Varview), MIR3685 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs937743988 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:95308439 (GRCh38)
                    12:95702215 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:95308438:T:C
                    Gene:
                    MIR331 (Varview), MIR3685 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs779887738 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:95308455 (GRCh38)
                      12:95702231 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:95308454:T:C
                      Gene:
                      MIR331 (Varview), MIR3685 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000014/1 (ExAC)
                      HGVS:
                      11.

                      rs754566715 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        12:95308513 (GRCh38)
                        12:95702289 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:95308512:C:G,NC_000012.12:95308512:C:T
                        Gene:
                        MIR331 (Varview), MIR3685 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0./0 (ExAC)
                        T=0.000006/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs746807094 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          12:95308484 (GRCh38)
                          12:95702260 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:95308483:C:G
                          Gene:
                          MIR331 (Varview), MIR3685 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000013/1 (ExAC)
                          HGVS:

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