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Links from Nucleotide

Items: 18

1.

rs1442910742 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    16:14304030 (GRCh38)
    16:14397887 (GRCh37)
    Canonical SPDI:
    NC_000016.10:14304029:A:T
    Gene:
    MIR193B (Varview), MIR193BHG (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1390859650 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:14304008 (GRCh38)
      16:14397865 (GRCh37)
      Canonical SPDI:
      NC_000016.10:14304007:G:A
      Gene:
      MIR193B (Varview), MIR193BHG (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1348244078 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        16:14304048 (GRCh38)
        16:14397905 (GRCh37)
        Canonical SPDI:
        NC_000016.10:14304047:A:G
        Gene:
        MIR193B (Varview), MIR193BHG (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1291785852 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          16:14304022 (GRCh38)
          16:14397879 (GRCh37)
          Canonical SPDI:
          NC_000016.10:14304021:G:A,NC_000016.10:14304021:G:T
          Gene:
          MIR193B (Varview), MIR193BHG (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1282181138 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            G>- [Show Flanks]
            Chromosome:
            16:14304000 (GRCh38)
            16:14397857 (GRCh37)
            Canonical SPDI:
            NC_000016.10:14303999:G:
            Gene:
            MIR193B (Varview), MIR193BHG (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1267267411 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:14303980 (GRCh38)
              16:14397837 (GRCh37)
              Canonical SPDI:
              NC_000016.10:14303979:C:T
              Gene:
              MIR193B (Varview), MIR193BHG (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1192367074 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                16:14303972 (GRCh38)
                16:14397829 (GRCh37)
                Canonical SPDI:
                NC_000016.10:14303971:C:T
                Gene:
                MIR193B (Varview), MIR193BHG (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1178664690 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  16:14303984 (GRCh38)
                  16:14397841 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:14303983:G:A,NC_000016.10:14303983:G:T
                  Gene:
                  MIR193B (Varview), MIR193BHG (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000019/5 (TOPMED)
                  HGVS:
                  9.

                  rs937569726 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:14303992 (GRCh38)
                    16:14397849 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:14303991:G:A
                    Gene:
                    MIR193B (Varview), MIR193BHG (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.00032/5 (TOMMO)
                    HGVS:
                    10.

                    rs890264882 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:14303983 (GRCh38)
                      16:14397840 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:14303982:G:A
                      Gene:
                      MIR193B (Varview), MIR193BHG (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs778011174 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        16:14303994 (GRCh38)
                        16:14397851 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:14303993:C:G,NC_000016.10:14303993:C:T
                        Gene:
                        MIR193B (Varview), MIR193BHG (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        G=0.000008/1 (ExAC)
                        HGVS:
                        12.

                        rs776664516 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:14304037 (GRCh38)
                          16:14397894 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:14304036:C:T
                          Gene:
                          MIR193B (Varview), MIR193BHG (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000008/1 (ExAC)
                          HGVS:
                          13.

                          rs775353503 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            16:14304018 (GRCh38)
                            16:14397875 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:14304017:A:G
                            Gene:
                            MIR193B (Varview), MIR193BHG (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000008/1 (ExAC)
                            HGVS:
                            14.

                            rs771821688 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              16:14304004 (GRCh38)
                              16:14397861 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:14304003:T:A
                              Gene:
                              MIR193B (Varview), MIR193BHG (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000017/2 (ExAC)
                              HGVS:
                              15.

                              rs769824339 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                16:14303981 (GRCh38)
                                16:14397838 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:14303980:G:C
                                Gene:
                                MIR193B (Varview), MIR193BHG (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.00002/5 (GnomAD_exomes)
                                C=0.000033/4 (ExAC)
                                HGVS:
                                16.

                                rs760322270 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:14304034 (GRCh38)
                                  16:14397891 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:14304033:C:T
                                  Gene:
                                  MIR193B (Varview), MIR193BHG (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000008/1 (ExAC)
                                  HGVS:
                                  17.

                                  rs749491315 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    16:14303998 (GRCh38)
                                    16:14397855 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:14303997:A:T
                                    Gene:
                                    MIR193B (Varview), MIR193BHG (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000008/1 (ExAC)
                                    HGVS:
                                    18.

                                    rs371777083 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      16:14304035 (GRCh38)
                                      16:14397892 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:14304034:C:G,NC_000016.10:14304034:C:T
                                      Gene:
                                      MIR193B (Varview), MIR193BHG (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000008/1 (ExAC)
                                      G=0.000014/2 (GnomAD)
                                      T=0.000097/1 (GoESP)
                                      HGVS:

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