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Links from Nucleotide

Items: 13

1.

rs1437793580 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    X:134170095 (GRCh38)
    X:133304125 (GRCh37)
    Canonical SPDI:
    NC_000023.11:134170094:A:G
    Gene:
    MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
    Functional Consequence:
    upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant
    Validated:
    by frequency
    MAF:
    G=0.000006/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1435263011 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:134170093 (GRCh38)
      X:133304123 (GRCh37)
      Canonical SPDI:
      NC_000023.11:134170092:C:T
      Gene:
      MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
      Functional Consequence:
      2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000019/5 (TOPMED)
      HGVS:
      3.

      rs1396816995 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        X:134170064 (GRCh38)
        X:133304094 (GRCh37)
        Canonical SPDI:
        NC_000023.11:134170063:G:A
        Gene:
        MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
        Functional Consequence:
        upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0.000005/1 (GnomAD_exomes)
        A=0.000045/1 (TOMMO)
        HGVS:
        4.

        rs1377904475 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:134170100 (GRCh38)
          X:133304130 (GRCh37)
          Canonical SPDI:
          NC_000023.11:134170099:C:T
          Gene:
          MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
          Functional Consequence:
          upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000006/1 (GnomAD_exomes)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1320516130 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:134170075 (GRCh38)
            X:133304105 (GRCh37)
            Canonical SPDI:
            NC_000023.11:134170074:G:A
            Gene:
            MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
            Functional Consequence:
            upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant
            Validated:
            by frequency
            MAF:
            A=0.000011/2 (GnomAD_exomes)
            HGVS:
            6.

            rs1282801352 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              X:134170096 (GRCh38)
              X:133304126 (GRCh37)
              Canonical SPDI:
              NC_000023.11:134170095:G:C
              Gene:
              MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
              Functional Consequence:
              downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000006/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1226659534 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:134170059 (GRCh38)
                X:133304089 (GRCh37)
                Canonical SPDI:
                NC_000023.11:134170058:G:A
                Gene:
                MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
                Functional Consequence:
                downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1165524950 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  X:134170053 (GRCh38)
                  X:133304083 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:134170052:C:A
                  Gene:
                  MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000005/1 (GnomAD_exomes)
                  A=0.000008/2 (TOPMED)
                  A=0.00001/1 (GnomAD)
                  HGVS:
                  9.

                  rs865985293 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:134170051 (GRCh38)
                    X:133304081 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:134170050:G:A
                    Gene:
                    MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
                    HGVS:
                    10.

                    rs766263303 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      X:134170048 (GRCh38)
                      X:133304078 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:134170047:A:G
                      Gene:
                      MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000005/1 (GnomAD_exomes)
                      G=0.000012/1 (ExAC)
                      HGVS:
                      11.

                      rs753655361 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        X:134170065 (GRCh38)
                        X:133304095 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:134170064:T:C
                        Gene:
                        MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000174/4 (ALFA)
                        C=0.00001/1 (GnomAD)
                        C=0.000022/4 (GnomAD_exomes)
                        C=0.000023/2 (ExAC)
                        C=0.000023/6 (TOPMED)
                        HGVS:
                        12.

                        rs753144266 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:134170077 (GRCh38)
                          X:133304107 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:134170076:T:C
                          Gene:
                          MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0./0 (TWINSUK)
                          C=0.000005/1 (GnomAD_exomes)
                          C=0.000012/1 (ExAC)
                          C=0.000019/5 (TOPMED)
                          C=0.000346/1 (ALSPAC)
                          HGVS:
                          13.

                          rs375686824 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:134170050 (GRCh38)
                            X:133304080 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:134170049:G:A
                            Gene:
                            MIR106A (Varview), MIR19B2 (Varview), MIR92A2 (Varview), MIR363 (Varview), MIR20B (Varview), MIR18B (Varview), LOC124905221 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000015/4 (TOPMED)
                            A=0.000123/1 (GoESP)
                            HGVS:

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