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Links from Nucleotide

Items: 1 to 20 of 38

1.

rs1400366896 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    15:25241783 (GRCh38)
    15:25486930 (GRCh37)
    Canonical SPDI:
    NC_000015.10:25241782:G:A
    Gene:
    SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000009/2 (GnomAD_exomes)
    HGVS:
    2.

    rs1379361697 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      15:25241753 (GRCh38)
      15:25486900 (GRCh37)
      Canonical SPDI:
      NC_000015.10:25241752:T:C
      Gene:
      SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1364234625 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        15:25241779 (GRCh38)
        15:25486926 (GRCh37)
        Canonical SPDI:
        NC_000015.10:25241778:G:A
        Gene:
        SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000009/2 (GnomAD_exomes)
        HGVS:
        4.

        rs1357897001 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          15:25241789 (GRCh38)
          15:25486936 (GRCh37)
          Canonical SPDI:
          NC_000015.10:25241788:G:A
          Gene:
          SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1352094478 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            15:25241826 (GRCh38)
            15:25486973 (GRCh37)
            Canonical SPDI:
            NC_000015.10:25241825:C:A
            Gene:
            SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1336664192 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:25241795 (GRCh38)
              15:25486942 (GRCh37)
              Canonical SPDI:
              NC_000015.10:25241794:A:G
              Gene:
              SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1312988772 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                15:25241809 (GRCh38)
                15:25486956 (GRCh37)
                Canonical SPDI:
                NC_000015.10:25241808:T:C
                Gene:
                SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1306916685 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  15:25241793 (GRCh38)
                  15:25486940 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:25241792:T:C
                  Gene:
                  SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000111/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1276078735 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    15:25241762 (GRCh38)
                    15:25486909 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:25241761:T:C
                    Gene:
                    SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
                    HGVS:
                    10.

                    rs1272675847 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      15:25241802 (GRCh38)
                      15:25486949 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:25241801:T:C
                      Gene:
                      SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1259486948 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        15:25241769 (GRCh38)
                        15:25486916 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:25241768:T:C
                        Gene:
                        SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000008/2 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1229660335 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          15:25241768 (GRCh38)
                          15:25486915 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:25241767:A:G
                          Gene:
                          SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1180807642 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            15:25241776 (GRCh38)
                            15:25486923 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:25241775:G:A
                            Gene:
                            SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            HGVS:
                            14.

                            rs1042795135 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              15:25241763 (GRCh38)
                              15:25486910 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:25241762:C:A,NC_000015.10:25241762:C:T
                              Gene:
                              SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs934505477 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:25241773 (GRCh38)
                                15:25486920 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:25241772:C:T
                                Gene:
                                SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
                                HGVS:
                                16.

                                rs780407117 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  15:25241751 (GRCh38)
                                  15:25486898 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:25241750:A:C
                                  Gene:
                                  SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000009/1 (ExAC)
                                  C=0.000009/2 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs779073811 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    15:25241761 (GRCh38)
                                    15:25486908 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:25241760:A:G
                                    Gene:
                                    SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000021/3 (GnomAD)
                                    G=0.000039/9 (GnomAD_exomes)
                                    G=0.000045/12 (TOPMED)
                                    G=0.000053/6 (ExAC)
                                    HGVS:
                                    18.

                                    rs776441895 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      15:25241787 (GRCh38)
                                      15:25486934 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:25241786:A:G
                                      Gene:
                                      SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000009/1 (ExAC)
                                      HGVS:
                                      19.

                                      rs773085528 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        15:25241770 (GRCh38)
                                        15:25486917 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:25241769:T:A,NC_000015.10:25241769:T:C
                                        Gene:
                                        SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000009/1 (ExAC)
                                        HGVS:
                                        20.

                                        rs765024623 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          15:25241798 (GRCh38)
                                          15:25486945 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:25241797:A:G
                                          Gene:
                                          SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000009/1 (ExAC)
                                          HGVS:

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