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Links from Nucleotide

Items: 19

1.

rs1453765565 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    X:147237005 (GRCh38)
    X:146318523 (GRCh37)
    Canonical SPDI:
    NC_000023.11:147237004:G:A
    Gene:
    MIR508 (Varview), LOC105373347 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000012/2 (GnomAD_exomes)
    A=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1427077649 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      X:147236990 (GRCh38)
      X:146318508 (GRCh37)
      Canonical SPDI:
      NC_000023.11:147236989:G:A,NC_000023.11:147236989:G:T
      Gene:
      MIR508 (Varview), LOC105373347 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000019/2 (GnomAD)
      A=0.000023/6 (TOPMED)
      HGVS:
      3.

      rs1393232827 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:147237011 (GRCh38)
        X:146318529 (GRCh37)
        Canonical SPDI:
        NC_000023.11:147237010:C:T
        Gene:
        MIR508 (Varview), LOC105373347 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1388853184 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          X:147236950 (GRCh38)
          X:146318468 (GRCh37)
          Canonical SPDI:
          NC_000023.11:147236949:T:C
          Gene:
          MIR508 (Varview), LOC105373347 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1347583314 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:147236917 (GRCh38)
            X:146318435 (GRCh37)
            Canonical SPDI:
            NC_000023.11:147236916:C:T
            Gene:
            MIR508 (Varview), LOC105373347 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000011/3 (TOPMED)
            T=0.000019/2 (GnomAD)
            HGVS:
            6.

            rs1317212902 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:147236968 (GRCh38)
              X:146318486 (GRCh37)
              Canonical SPDI:
              NC_000023.11:147236967:T:C
              Gene:
              MIR508 (Varview), LOC105373347 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1037507280 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:147237003 (GRCh38)
                X:146318521 (GRCh37)
                Canonical SPDI:
                NC_000023.11:147237002:G:A
                Gene:
                MIR508 (Varview), LOC105373347 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000023/6 (TOPMED)
                A=0.000029/3 (GnomAD)
                HGVS:
                8.

                rs1006051059 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:147236985 (GRCh38)
                  X:146318503 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:147236984:G:A
                  Gene:
                  MIR508 (Varview), LOC105373347 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  HGVS:
                  9.

                  rs782776289 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:147236925 (GRCh38)
                    X:146318443 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:147236924:C:T
                    Gene:
                    MIR508 (Varview), LOC105373347 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000017/1 (ExAC)
                    T=0.000019/5 (TOPMED)
                    T=0.000029/5 (GnomAD_exomes)
                    T=0.000039/4 (GnomAD)
                    HGVS:
                    10.

                    rs782485238 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:147236941 (GRCh38)
                      X:146318459 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:147236940:T:C
                      Gene:
                      MIR508 (Varview), LOC105373347 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000071/1 (ALFA)
                      C=0.000016/1 (ExAC)
                      C=0.000029/3 (GnomAD)
                      C=0.000049/13 (TOPMED)
                      HGVS:
                      11.

                      rs782415599 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        X:147237017 (GRCh38)
                        X:146318535 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:147237016:G:C
                        Gene:
                        MIR508 (Varview), LOC105373347 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        C=0./0 (ExAC)
                        HGVS:
                        12.

                        rs782254992 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:147237013 (GRCh38)
                          X:146318531 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:147237012:C:T
                          Gene:
                          MIR508 (Varview), LOC105373347 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000006/1 (GnomAD_exomes)
                          T=0.00002/1 (ExAC)
                          HGVS:
                          13.

                          rs782092788 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            X:147236934 (GRCh38)
                            X:146318452 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:147236933:A:G
                            Gene:
                            MIR508 (Varview), LOC105373347 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0./0 (ALSPAC)
                            G=0.0003/1 (TWINSUK)
                            HGVS:
                            14.

                            rs782062811 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:147236935 (GRCh38)
                              X:146318453 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:147236934:T:C
                              Gene:
                              MIR508 (Varview), LOC105373347 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000023/6 (TOPMED)
                              C=0.003745/2 (MGP)
                              HGVS:
                              15.

                              rs781946176 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:147236930 (GRCh38)
                                X:146318448 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:147236929:C:T
                                Gene:
                                MIR508 (Varview), LOC105373347 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000142/2 (ALFA)
                                T=0.000092/16 (GnomAD_exomes)
                                T=0.000097/10 (GnomAD)
                                T=0.000128/34 (TOPMED)
                                T=0.000134/8 (ExAC)
                                T=0.000416/2 (1000Genomes)
                                HGVS:
                                16.

                                rs571281024 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  X:147236929 (GRCh38)
                                  X:146318447 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:147236928:A:G
                                  Gene:
                                  MIR508 (Varview), LOC105373347 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000048/5 (GnomAD)
                                  G=0.000121/32 (TOPMED)
                                  G=0.000368/22 (ExAC)
                                  G=0.000381/66 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs376885438 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    X:147236926 (GRCh38)
                                    X:146318444 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:147236925:G:A
                                    Gene:
                                    MIR508 (Varview), LOC105373347 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000017/1 (ExAC)
                                    A=0.000019/2 (GnomAD)
                                    A=0.000029/5 (GnomAD_exomes)
                                    A=0.000123/1 (GoESP)
                                    A=0.000225/3 (TOMMO)
                                    HGVS:
                                    18.

                                    rs369217552 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      X:147236931 (GRCh38)
                                      X:146318449 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:147236930:G:A
                                      Gene:
                                      MIR508 (Varview), LOC105373347 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000017/1 (ExAC)
                                      A=0.000019/2 (GnomAD)
                                      A=0.000123/1 (GoESP)
                                      HGVS:
                                      19.

                                      rs201928492 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:147236989 (GRCh38)
                                        X:146318507 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:147236988:C:T
                                        Gene:
                                        MIR508 (Varview), LOC105373347 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000043/1 (ALFA)
                                        T=0.000076/13 (GnomAD_exomes)
                                        T=0.000106/28 (TOPMED)
                                        T=0.000135/14 (GnomAD)
                                        T=0.000208/1 (1000Genomes)
                                        T=0.000233/13 (ExAC)
                                        T=0.000369/3 (GoESP)
                                        HGVS:

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