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Links from Nucleotide

Items: 1 to 20 of 21

1.

rs1425774045 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    X:147259697 (GRCh38)
    X:146341215 (GRCh37)
    Canonical SPDI:
    NC_000023.11:147259696:A:C
    Gene:
    MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:
    2.

    rs1347542139 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      X:147259661 (GRCh38)
      X:146341179 (GRCh37)
      Canonical SPDI:
      NC_000023.11:147259660:T:C
      Gene:
      MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
      Functional Consequence:
      2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1319750096 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:147259665 (GRCh38)
        X:146341183 (GRCh37)
        Canonical SPDI:
        NC_000023.11:147259664:C:T
        Gene:
        MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        T=0.000019/2 (GnomAD)
        HGVS:
        4.

        rs1284194811 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          X:147259711 (GRCh38)
          X:146341229 (GRCh37)
          Canonical SPDI:
          NC_000023.11:147259710:T:C
          Gene:
          MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000023/6 (TOPMED)
          HGVS:
          5.

          rs1213462080 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:147259718 (GRCh38)
            X:146341236 (GRCh37)
            Canonical SPDI:
            NC_000023.11:147259717:G:A
            Gene:
            MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000019/2 (GnomAD)
            HGVS:
            6.

            rs1042659295 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:147259705 (GRCh38)
              X:146341223 (GRCh37)
              Canonical SPDI:
              NC_000023.11:147259704:C:T
              Gene:
              MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000015/4 (TOPMED)
              T=0.000016/3 (GnomAD_exomes)
              T=0.000019/2 (GnomAD)
              HGVS:
              7.

              rs986641782 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:147259654 (GRCh38)
                X:146341172 (GRCh37)
                Canonical SPDI:
                NC_000023.11:147259653:G:A
                Gene:
                MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.00003/8 (TOPMED)
                HGVS:
                8.

                rs911953291 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  X:147259672 (GRCh38)
                  X:146341190 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:147259671:A:G
                  Gene:
                  MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000005/1 (GnomAD_exomes)
                  G=0.000011/3 (TOPMED)
                  G=0.000019/2 (GnomAD)
                  HGVS:
                  9.

                  rs782709356 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:147259673 (GRCh38)
                    X:146341191 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:147259672:C:T
                    Gene:
                    MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000142/2 (ALFA)
                    T=0.000011/1 (ExAC)
                    T=0.000011/2 (GnomAD_exomes)
                    T=0.000019/2 (GnomAD)
                    T=0.000049/13 (TOPMED)
                    HGVS:
                    10.

                    rs782683348 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:147259701 (GRCh38)
                      X:146341219 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:147259700:T:C
                      Gene:
                      MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.00001/1 (GnomAD)
                      C=0.000011/3 (TOPMED)
                      C=0.000022/4 (GnomAD_exomes)
                      C=0.000034/3 (ExAC)
                      HGVS:
                      11.

                      rs782620151 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        X:147259693 (GRCh38)
                        X:146341211 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:147259692:A:G
                        Gene:
                        MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0./0 (ExAC)
                        HGVS:
                        12.

                        rs782582906 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,T [Show Flanks]
                          Chromosome:
                          X:147259679 (GRCh38)
                          X:146341197 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:147259678:A:C,NC_000023.11:147259678:A:T
                          Gene:
                          MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0./0 (ALSPAC)
                          C=0.000005/1 (GnomAD_exomes)
                          T=0.000008/2 (TOPMED)
                          C=0.000011/1 (ExAC)
                          T=0.00027/1 (TWINSUK)
                          A=0.5/1 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs782561068 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            X:147259667 (GRCh38)
                            X:146341185 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:147259666:C:T
                            Gene:
                            MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.000005/1 (GnomAD_exomes)
                            T=0.000011/1 (ExAC)
                            HGVS:
                            14.

                            rs782329671 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              X:147259708 (GRCh38)
                              X:146341226 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:147259707:G:A,NC_000023.11:147259707:G:T
                              Gene:
                              MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              A=0.000016/3 (GnomAD_exomes)
                              A=0.000019/2 (GnomAD)
                              A=0.000034/3 (ExAC)
                              HGVS:
                              15.

                              rs782306262 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->T [Show Flanks]
                                Chromosome:
                                X:147259707 (GRCh38)
                                X:146341226 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:147259707::T
                                Gene:
                                MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.00026/6 (ALFA)
                                T=0.000213/2 (GoESP)
                                T=0.000365/38 (GnomAD)
                                T=0.000552/146 (TOPMED)
                                T=0.000997/87 (ExAC)
                                T=0.001002/183 (GnomAD_exomes)
                                T=0.002205/28 (TOMMO)
                                T=0.002914/14 (1000Genomes)
                                T=0.03/3 (Vietnamese)
                                HGVS:
                                16.

                                rs782181939 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:147259707 (GRCh38)
                                  X:146341225 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:147259706:C:T
                                  Gene:
                                  MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/1 (ExAC)
                                  T=0.000022/4 (GnomAD_exomes)
                                  T=0.000038/4 (GnomAD)
                                  T=0.000057/15 (TOPMED)
                                  HGVS:
                                  17.

                                  rs782104042 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    X:147259730 (GRCh38)
                                    X:146341248 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:147259723:CACACACA:CACACA
                                    Gene:
                                    MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    -=0.000016/3 (GnomAD_exomes)
                                    -=0.000023/2 (ExAC)
                                    HGVS:
                                    18.

                                    rs781951415 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      X:147259717 (GRCh38)
                                      X:146341235 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:147259716:A:T
                                      Gene:
                                      MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000011/1 (ExAC)
                                      T=0.000011/3 (TOPMED)
                                      T=0.000022/4 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs781816035 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        X:147259674 (GRCh38)
                                        X:146341192 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:147259673:G:A,NC_000023.11:147259673:G:T
                                        Gene:
                                        MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000034/3 (ExAC)
                                        A=0.000048/5 (GnomAD)
                                        A=0.000049/13 (TOPMED)
                                        A=0.00006/11 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs368447666 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          X:147259699 (GRCh38)
                                          X:146341217 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:147259698:G:A,NC_000023.11:147259698:G:C
                                          Gene:
                                          MIR509-2 (Varview), MIR509-3 (Varview), LOC105373347 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.001127/31 (ALFA)
                                          C=0.000624/2 (1000Genomes)
                                          C=0.000809/3 (TWINSUK)
                                          C=0.000907/240 (TOPMED)
                                          C=0.001038/3 (ALSPAC)
                                          C=0.001133/118 (GnomAD)
                                          C=0.001318/115 (ExAC)
                                          C=0.001846/15 (GoESP)
                                          C=0.009259/1 (Qatari)
                                          HGVS:

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