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Links from Nucleotide

Items: 1 to 20 of 31

1.

rs1482775835 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:198858931 (GRCh38)
    1:198828060 (GRCh37)
    Canonical SPDI:
    NC_000001.11:198858930:C:T
    Gene:
    MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
    Functional Consequence:
    non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000047/1 (ALFA)
    T=0.000008/2 (GnomAD_exomes)
    HGVS:
    2.

    rs1461615722 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      T>- [Show Flanks]
      Chromosome:
      1:198858971 (GRCh38)
      1:198828100 (GRCh37)
      Canonical SPDI:
      NC_000001.11:198858970:T:
      Gene:
      MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
      Functional Consequence:
      intron_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1454997515 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        1:198858877 (GRCh38)
        1:198828006 (GRCh37)
        Canonical SPDI:
        NC_000001.11:198858876:G:A,NC_000001.11:198858876:G:C
        Gene:
        MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
        Functional Consequence:
        intron_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1437208366 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          1:198858952 (GRCh38)
          1:198828081 (GRCh37)
          Canonical SPDI:
          NC_000001.11:198858951:G:T
          Gene:
          MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by cluster
          HGVS:
          5.

          rs1421493211 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:198858956 (GRCh38)
            1:198828085 (GRCh37)
            Canonical SPDI:
            NC_000001.11:198858955:C:T
            Gene:
            MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
            Functional Consequence:
            downstream_transcript_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000047/1 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1402464162 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              1:198858894 (GRCh38)
              1:198828023 (GRCh37)
              Canonical SPDI:
              NC_000001.11:198858893:C:A
              Gene:
              MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
              Functional Consequence:
              500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              7.

              rs1395115094 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G,T [Show Flanks]
                Chromosome:
                1:198858902 (GRCh38)
                1:198828031 (GRCh37)
                Canonical SPDI:
                NC_000001.11:198858901:A:C,NC_000001.11:198858901:A:G,NC_000001.11:198858901:A:T
                Gene:
                MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                Functional Consequence:
                intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1385750980 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:198858937 (GRCh38)
                  1:198828066 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:198858936:C:T
                  Gene:
                  MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                  Functional Consequence:
                  500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1378854545 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:198858899 (GRCh38)
                    1:198828028 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:198858898:T:C
                    Gene:
                    MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1337812156 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:198858897 (GRCh38)
                      1:198828026 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:198858896:T:C
                      Gene:
                      MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1323404832 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:198858936 (GRCh38)
                        1:198828065 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:198858935:G:A
                        Gene:
                        MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1310108538 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:198858903 (GRCh38)
                          1:198828032 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:198858902:G:A
                          Gene:
                          MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1276677169 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:198858892 (GRCh38)
                            1:198828021 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:198858891:T:C
                            Gene:
                            MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1264082334 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              1:198858938 (GRCh38)
                              1:198828067 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:198858937:A:C
                              Gene:
                              MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1256400288 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                1:198858930 (GRCh38)
                                1:198828059 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:198858929:C:A
                                Gene:
                                MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1205413123 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:198858926 (GRCh38)
                                  1:198828055 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:198858925:C:A
                                  Gene:
                                  MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1170643583 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    G>- [Show Flanks]
                                    Chromosome:
                                    1:198858875 (GRCh38)
                                    1:198828004 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:198858874:G:
                                    Gene:
                                    MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000012/3 (GnomAD_exomes)
                                    -=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1033980725 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      1:198858913 (GRCh38)
                                      1:198828042 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:198858912:C:G
                                      Gene:
                                      MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
                                      HGVS:
                                      19.

                                      rs994481617 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        1:198858880 (GRCh38)
                                        1:198828009 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:198858879:G:T
                                        Gene:
                                        MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                        Functional Consequence:
                                        intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs958593822 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          1:198858942 (GRCh38)
                                          1:198828071 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:198858941:A:C
                                          Gene:
                                          MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
                                          HGVS:

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