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Links from Nucleotide

Items: 1 to 20 of 30

1.

rs1473633153 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:67740781 (GRCh38)
    17:65736897 (GRCh37)
    Canonical SPDI:
    NC_000017.11:67740780:G:A
    Gene:
    NOL11 (Varview), SNORA38B (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.00003/8 (TOPMED)
    A=0.000036/5 (GnomAD)
    HGVS:
    2.

    rs1447631940 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:67740754 (GRCh38)
      17:65736870 (GRCh37)
      Canonical SPDI:
      NC_000017.11:67740753:G:A
      Gene:
      NOL11 (Varview), SNORA38B (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0./0 (GnomAD)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1444040998 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:67740699 (GRCh38)
        17:65736815 (GRCh37)
        Canonical SPDI:
        NC_000017.11:67740698:T:C
        Gene:
        NOL11 (Varview), SNORA38B (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1418583429 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:67740770 (GRCh38)
          17:65736886 (GRCh37)
          Canonical SPDI:
          NC_000017.11:67740769:C:T
          Gene:
          NOL11 (Varview), SNORA38B (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1402470860 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:67740755 (GRCh38)
            17:65736871 (GRCh37)
            Canonical SPDI:
            NC_000017.11:67740754:G:A
            Gene:
            NOL11 (Varview), SNORA38B (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:
            6.

            rs1381267920 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:67740744 (GRCh38)
              17:65736860 (GRCh37)
              Canonical SPDI:
              NC_000017.11:67740743:G:A
              Gene:
              NOL11 (Varview), SNORA38B (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1365628814 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                A>- [Show Flanks]
                Chromosome:
                17:67740731 (GRCh38)
                17:65736847 (GRCh37)
                Canonical SPDI:
                NC_000017.11:67740730:AAA:AA
                Gene:
                NOL11 (Varview), SNORA38B (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AA=0./0 (ALFA)
                -=0.000023/6 (TOPMED)
                -=0.000029/4 (GnomAD)
                HGVS:
                8.

                rs1339205017 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  17:67740722 (GRCh38)
                  17:65736838 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:67740721:G:C
                  Gene:
                  NOL11 (Varview), SNORA38B (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000014/2 (GnomAD)
                  C=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1323985924 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    17:67740791 (GRCh38)
                    17:65736907 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:67740790:C:G,NC_000017.11:67740790:C:T
                    Gene:
                    NOL11 (Varview), SNORA38B (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=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1290664729 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      17:67740711 (GRCh38)
                      17:65736827 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:67740710:T:C
                      Gene:
                      NOL11 (Varview), SNORA38B (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1285133649 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        17:67740726 (GRCh38)
                        17:65736842 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:67740725:C:G
                        Gene:
                        NOL11 (Varview), SNORA38B (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1259605701 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          17:67740714 (GRCh38)
                          17:65736830 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:67740713:A:G
                          Gene:
                          NOL11 (Varview), SNORA38B (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1241299499 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            17:67740688 (GRCh38)
                            17:65736804 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:67740687:C:G,NC_000017.11:67740687:C:T
                            Gene:
                            NOL11 (Varview), SNORA38B (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            G=0.00004/1 (TOMMO)
                            HGVS:
                            14.

                            rs1225046319 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              17:67740794 (GRCh38)
                              17:65736910 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:67740793:A:C,NC_000017.11:67740793:A:G
                              Gene:
                              NOL11 (Varview), SNORA38B (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1202518761 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:67740705 (GRCh38)
                                17:65736821 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:67740704:T:C
                                Gene:
                                NOL11 (Varview), SNORA38B (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                C=0.000035/1 (TOMMO)
                                HGVS:
                                16.

                                rs1168881792 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:67740757 (GRCh38)
                                  17:65736873 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:67740756:C:T
                                  Gene:
                                  NOL11 (Varview), SNORA38B (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1047137032 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    17:67740760 (GRCh38)
                                    17:65736876 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:67740759:G:T
                                    Gene:
                                    NOL11 (Varview), SNORA38B (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs975406088 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      17:67740715 (GRCh38)
                                      17:65736831 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:67740714:A:C
                                      Gene:
                                      NOL11 (Varview), SNORA38B (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs963901213 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        17:67740701 (GRCh38)
                                        17:65736817 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:67740700:T:G
                                        Gene:
                                        NOL11 (Varview), SNORA38B (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000043/6 (GnomAD)
                                        G=0.000102/27 (TOPMED)
                                        HGVS:
                                        20.

                                        rs931429049 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          17:67740752 (GRCh38)
                                          17:65736868 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:67740751:T:A
                                          Gene:
                                          NOL11 (Varview), SNORA38B (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.00003/8 (TOPMED)
                                          A=0.000036/5 (GnomAD)
                                          HGVS:

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