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Links from Nucleotide

Items: 14

1.

rs1466815657 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:6963753 (GRCh38)
    12:7072916 (GRCh37)
    Canonical SPDI:
    NC_000012.12:6963752:G:A
    Gene:
    MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_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:
    2.

    rs1448470346 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      12:6963736 (GRCh38)
      12:7072899 (GRCh37)
      Canonical SPDI:
      NC_000012.12:6963735:A:C
      Gene:
      MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1400433260 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        12:6963758 (GRCh38)
        12:7072921 (GRCh37)
        Canonical SPDI:
        NC_000012.12:6963757:T:C,NC_000012.12:6963757:T:G
        Gene:
        MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1338259533 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          12:6963728 (GRCh38)
          12:7072891 (GRCh37)
          Canonical SPDI:
          NC_000012.12:6963727:C:A,NC_000012.12:6963727:C:T
          Gene:
          MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
          Functional Consequence:
          non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.00018/3 (TOMMO)
          T=0.00069/2 (KOREAN)
          HGVS:
          5.

          rs1318673559 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            12:6963704 (GRCh38)
            12:7072867 (GRCh37)
            Canonical SPDI:
            NC_000012.12:6963703:G:A
            Gene:
            MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
            Functional Consequence:
            upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000023/6 (TOPMED)
            A=0.000051/2 (GnomAD_exomes)
            A=0.000057/8 (GnomAD)
            HGVS:
            6.

            rs1277597787 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              12:6963716 (GRCh38)
              12:7072879 (GRCh37)
              Canonical SPDI:
              NC_000012.12:6963715:A:C,NC_000012.12:6963715:A:G
              Gene:
              MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1276766508 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                12:6963699 (GRCh38)
                12:7072862 (GRCh37)
                Canonical SPDI:
                NC_000012.12:6963698:C:T
                Gene:
                MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1220589670 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  12:6963703 (GRCh38)
                  12:7072866 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:6963702:C:G,NC_000012.12:6963702:C:T
                  Gene:
                  MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  G=0./0 (GnomAD)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1169263452 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    12:6963766 (GRCh38)
                    12:7072929 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:6963765:G:T
                    Gene:
                    MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000023/6 (TOPMED)
                    HGVS:
                    10.

                    rs942672545 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      12:6963713 (GRCh38)
                      12:7072876 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:6963712:A:G
                      Gene:
                      MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                      HGVS:
                      11.

                      rs904135271 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        12:6963752 (GRCh38)
                        12:7072915 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:6963751:G:A,NC_000012.12:6963751:G:C
                        Gene:
                        MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs782249241 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          12:6963751 (GRCh38)
                          12:7072914 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:6963750:C:T
                          Gene:
                          MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000142/2 (ALFA)
                          T=0./0 (ALSPAC)
                          T=0.000029/4 (GnomAD)
                          T=0.000049/13 (TOPMED)
                          T=0.000539/2 (TWINSUK)
                          HGVS:
                          13.

                          rs781922209 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:6963729 (GRCh38)
                            12:7072892 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:6963728:G:A
                            Gene:
                            MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0./0 (ExAC)
                            A=0.00003/8 (TOPMED)
                            A=0.000057/8 (GnomAD)
                            A=0.000077/3 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs372372905 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              12:6963719 (GRCh38)
                              12:7072882 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:6963718:G:A
                              Gene:
                              MIR141 (Varview), MIR200C (Varview), LOC105369634 (Varview), MIR200CHG (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000015/4 (TOPMED)
                              A=0.000051/2 (GnomAD_exomes)
                              A=0.0001/1 (GoESP)
                              A=0.000208/2 (ExAC)
                              HGVS:

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