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Links from Nucleotide

Items: 20

1.

rs1423822644 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    15:24986987 (GRCh38)
    15:25232134 (GRCh37)
    Canonical SPDI:
    NC_000015.10:24986986:C:T
    Gene:
    PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000014/2 (GnomAD)
    T=0.000023/6 (TOPMED)
    HGVS:
    2.

    rs1412639531 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      15:24986985 (GRCh38)
      15:25232132 (GRCh37)
      Canonical SPDI:
      NC_000015.10:24986984:A:G
      Gene:
      PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000094/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1359327972 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        15:24986944 (GRCh38)
        15:25232091 (GRCh37)
        Canonical SPDI:
        NC_000015.10:24986943:T:C
        Gene:
        PWAR5 (Varview), SNORD108 (Varview), SNHG14 (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 (GnomAD_exomes)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1354816194 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          15:24986937 (GRCh38)
          15:25232084 (GRCh37)
          Canonical SPDI:
          NC_000015.10:24986936:G:A
          Gene:
          PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1335204464 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            15:24986969 (GRCh38)
            15:25232116 (GRCh37)
            Canonical SPDI:
            NC_000015.10:24986968:CC:C
            Gene:
            PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CC=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1282182076 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              A>- [Show Flanks]
              Chromosome:
              15:24986938 (GRCh38)
              15:25232085 (GRCh37)
              Canonical SPDI:
              NC_000015.10:24986937:AA:A
              Gene:
              PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              AA=0./0 (ALFA)
              -=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1279954583 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAT>- [Show Flanks]
                Chromosome:
                15:24986929 (GRCh38)
                15:25232076 (GRCh37)
                Canonical SPDI:
                NC_000015.10:24986927:TAAT:T
                Gene:
                PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1172437674 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  15:24986946 (GRCh38)
                  15:25232093 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:24986945:T:C
                  Gene:
                  PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1047342934 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    15:24986984 (GRCh38)
                    15:25232131 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:24986983:G:C
                    Gene:
                    PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1019185625 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      15:24986943 (GRCh38)
                      15:25232090 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:24986942:T:A
                      Gene:
                      PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs779482201 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        15:24986930 (GRCh38)
                        15:25232077 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:24986929:A:G
                        Gene:
                        PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000009/1 (ExAC)
                        G=0.000156/1 (1000Genomes)
                        G=0.000342/1 (KOREAN)
                        HGVS:
                        12.

                        rs776973944 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          15:24986968 (GRCh38)
                          15:25232115 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:24986967:T:C
                          Gene:
                          PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000022/5 (GnomAD_exomes)
                          C=0.000027/3 (ExAC)
                          HGVS:
                          13.

                          rs771340890 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            15:24986961 (GRCh38)
                            15:25232108 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:24986960:G:A
                            Gene:
                            PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000066/1 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            A=0.000009/1 (ExAC)
                            A=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs770033858 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C,T [Show Flanks]
                              Chromosome:
                              15:24986988 (GRCh38)
                              15:25232135 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:24986987:G:A,NC_000015.10:24986987:G:C,NC_000015.10:24986987:G:T
                              Gene:
                              PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000021/3 (GnomAD)
                              A=0.000026/6 (GnomAD_exomes)
                              A=0.000027/3 (ExAC)
                              HGVS:
                              15.

                              rs758856404 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                15:24986938 (GRCh38)
                                15:25232085 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:24986937:A:G
                                Gene:
                                PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                G=0.000009/1 (ExAC)
                                HGVS:
                                16.

                                rs748779162 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  15:24986931 (GRCh38)
                                  15:25232078 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:24986930:T:C
                                  Gene:
                                  PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000009/1 (ExAC)
                                  HGVS:
                                  17.

                                  rs371152627 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    15:24986945 (GRCh38)
                                    15:25232092 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:24986944:A:G
                                    Gene:
                                    PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000009/1 (ExAC)
                                    G=0.000174/1 (GoESP)
                                    HGVS:
                                    18.

                                    rs201586737 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      15:24986965 (GRCh38)
                                      15:25232112 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:24986964:C:T
                                      Gene:
                                      PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      HGVS:
                                      19.

                                      rs188270533 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        15:24986947 (GRCh38)
                                        15:25232094 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:24986946:T:A
                                        Gene:
                                        PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.003802/106 (ALFA)
                                        A=0.000625/3 (1000Genomes)
                                        A=0.00157/9 (GoESP)
                                        A=0.00258/598 (GnomAD_exomes)
                                        A=0.00299/337 (ExAC)
                                        A=0.002992/792 (TOPMED)
                                        A=0.003223/452 (GnomAD)
                                        A=0.003373/13 (ALSPAC)
                                        A=0.005/3 (NorthernSweden)
                                        A=0.00501/5 (GoNL)
                                        A=0.005124/19 (TWINSUK)
                                        A=0.012277/55 (Estonian)
                                        T=0.5/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs75793510 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          15:24986971 (GRCh38)
                                          15:25232118 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:24986970:A:C,NC_000015.10:24986970:A:G
                                          Gene:
                                          PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000423/10 (ALFA)
                                          G=0.001677/189 (ExAC)
                                          G=0.00463/1 (Qatari)
                                          G=0.007027/35 (1000Genomes)
                                          G=0.009592/55 (GoESP)
                                          A=0.5/2 (SGDP_PRJ)
                                          HGVS:

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