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Links from Nucleotide

Items: 13

1.

rs1461597431 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    X:147272388 (GRCh38)
    X:146353906 (GRCh37)
    Canonical SPDI:
    NC_000023.11:147272387:C:T
    Gene:
    MIR510 (Varview), LOC105373347 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000005/1 (GnomAD_exomes)
    T=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1458999778 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:147272403 (GRCh38)
      X:146353921 (GRCh37)
      Canonical SPDI:
      NC_000023.11:147272402:C:T
      Gene:
      MIR510 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000006/1 (GnomAD_exomes)
      T=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1374163890 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        X:147272342 (GRCh38)
        X:146353860 (GRCh37)
        Canonical SPDI:
        NC_000023.11:147272341:T:C
        Gene:
        MIR510 (Varview), LOC105373347 (Varview)
        Functional Consequence:
        downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000005/1 (GnomAD_exomes)
        C=0.00001/1 (GnomAD)
        C=0.000019/5 (TOPMED)
        HGVS:
        4.

        rs1185108659 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          X:147272378 (GRCh38)
          X:146353896 (GRCh37)
          Canonical SPDI:
          NC_000023.11:147272377:G:A
          Gene:
          MIR510 (Varview), LOC105373347 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000038/4 (GnomAD)
          HGVS:
          5.

          rs1170485728 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:147272365 (GRCh38)
            X:146353883 (GRCh37)
            Canonical SPDI:
            NC_000023.11:147272364:C:T
            Gene:
            MIR510 (Varview), LOC105373347 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1041712363 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              X:147272361 (GRCh38)
              X:146353879 (GRCh37)
              Canonical SPDI:
              NC_000023.11:147272360:A:G
              Gene:
              MIR510 (Varview), LOC105373347 (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000005/1 (GnomAD_exomes)
              G=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1003086707 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                X:147272404 (GRCh38)
                X:146353922 (GRCh37)
                Canonical SPDI:
                NC_000023.11:147272403:A:G
                Gene:
                MIR510 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                HGVS:
                8.

                rs782172013 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  X:147272392 (GRCh38)
                  X:146353910 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:147272391:C:A
                  Gene:
                  MIR510 (Varview), LOC105373347 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.00001/1 (GnomAD)
                  A=0.000011/2 (GnomAD_exomes)
                  A=0.000011/3 (TOPMED)
                  A=0.000012/1 (ExAC)
                  HGVS:
                  9.

                  rs781968666 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:147272346 (GRCh38)
                    X:146353864 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:147272345:C:T
                    Gene:
                    MIR510 (Varview), LOC105373347 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/2 (GnomAD_exomes)
                    T=0.000012/1 (ExAC)
                    HGVS:
                    10.

                    rs781896877 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      X:147272390 (GRCh38)
                      X:146353908 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:147272389:C:T
                      Gene:
                      MIR510 (Varview), LOC105373347 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000005/1 (GnomAD_exomes)
                      T=0.00001/1 (GnomAD)
                      T=0.000012/1 (ExAC)
                      HGVS:
                      11.

                      rs375077546 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        X:147272376 (GRCh38)
                        X:146353894 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:147272375:A:G
                        Gene:
                        MIR510 (Varview), LOC105373347 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000545/15 (ALFA)
                        G=0.000252/46 (GnomAD_exomes)
                        G=0.000288/24 (ExAC)
                        G=0.000738/6 (GoESP)
                        G=0.000832/3 (1000Genomes)
                        G=0.00085/89 (GnomAD)
                        G=0.001118/296 (TOPMED)
                        HGVS:
                        12.

                        rs372549644 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          X:147272370 (GRCh38)
                          X:146353888 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:147272369:A:T
                          Gene:
                          MIR510 (Varview), LOC105373347 (Varview)
                          Functional Consequence:
                          500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.00001/1 (GnomAD)
                          T=0.000012/1 (ExAC)
                          T=0.000123/1 (GoESP)
                          HGVS:
                          13.

                          rs369691302 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            X:147272364 (GRCh38)
                            X:146353882 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:147272363:A:T
                            Gene:
                            MIR510 (Varview), LOC105373347 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.0001/1 (GoESP)
                            HGVS:

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