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Links from Nucleotide

Items: 1 to 20 of 35

1.

rs1455345833 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    15:25239886 (GRCh38)
    15:25485033 (GRCh37)
    Canonical SPDI:
    NC_000015.10:25239885:A:G
    Gene:
    SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1425177723 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      15:25239858 (GRCh38)
      15:25485005 (GRCh37)
      Canonical SPDI:
      NC_000015.10:25239857:A:C
      Gene:
      SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1410049204 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        15:25239897 (GRCh38)
        15:25485044 (GRCh37)
        Canonical SPDI:
        NC_000015.10:25239896:T:C
        Gene:
        SNORD115-38 (Varview), SNORD115-39 (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 (GnomAD_exomes)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1345758004 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          15:25239862 (GRCh38)
          15:25485009 (GRCh37)
          Canonical SPDI:
          NC_000015.10:25239861:T:A
          Gene:
          SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1285635494 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            15:25239839 (GRCh38)
            15:25484986 (GRCh37)
            Canonical SPDI:
            NC_000015.10:25239838:G:T
            Gene:
            SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
            Functional Consequence:
            2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1281070965 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              15:25239855 (GRCh38)
              15:25485002 (GRCh37)
              Canonical SPDI:
              NC_000015.10:25239854:C:T
              Gene:
              SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1243845479 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                15:25239842 (GRCh38)
                15:25484989 (GRCh37)
                Canonical SPDI:
                NC_000015.10:25239841:C:A
                Gene:
                SNORD115-38 (Varview), SNORD115-39 (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=0.000008/2 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1236849660 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  15:25239916 (GRCh38)
                  15:25485063 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:25239915:G:A,NC_000015.10:25239915:G:T
                  Gene:
                  SNORD115-38 (Varview), SNORD115-39 (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:
                  T=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1235115111 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    15:25239880 (GRCh38)
                    15:25485027 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:25239879:T:C
                    Gene:
                    SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1218446970 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      15:25239860 (GRCh38)
                      15:25485007 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:25239859:A:G
                      Gene:
                      SNORD115-38 (Varview), SNORD115-39 (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:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1205754699 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:25239878 (GRCh38)
                        15:25485025 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:25239877:G:A
                        Gene:
                        SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                        HGVS:
                        12.

                        rs994792467 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          15:25239894 (GRCh38)
                          15:25485041 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:25239893:T:C,NC_000015.10:25239893:T:G
                          Gene:
                          SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs906340598 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            15:25239873 (GRCh38)
                            15:25485020 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:25239872:G:T
                            Gene:
                            SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            HGVS:
                            14.

                            rs779375241 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              15:25239838 (GRCh38)
                              15:25484985 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:25239837:G:T
                              Gene:
                              SNORD115-38 (Varview), SNORD115-39 (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:
                              T=0.000087/2 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000009/1 (ExAC)
                              T=0.000017/4 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs777075182 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C,T [Show Flanks]
                                Chromosome:
                                15:25239910 (GRCh38)
                                15:25485057 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:25239909:G:A,NC_000015.10:25239909:G:C,NC_000015.10:25239909:G:T
                                Gene:
                                SNORD115-38 (Varview), SNORD115-39 (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:
                                T=0./0 (ALFA)
                                A=0.00034/1 (KOREAN)
                                HGVS:
                                16.

                                rs777056706 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:25239859 (GRCh38)
                                  15:25485006 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:25239858:C:T
                                  Gene:
                                  SNORD115-38 (Varview), SNORD115-39 (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:
                                  T=0./0 (ALFA)
                                  T=0.000009/1 (ExAC)
                                  T=0.000156/1 (1000Genomes)
                                  T=0.001027/3 (KOREAN)
                                  T=0.001092/2 (Korea1K)
                                  T=0.007679/129 (TOMMO)
                                  HGVS:
                                  17.

                                  rs773742240 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    15:25239847 (GRCh38)
                                    15:25484994 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:25239846:A:G
                                    Gene:
                                    SNORD115-38 (Varview), SNORD115-39 (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:
                                    G=0.000142/2 (ALFA)
                                    G=0.000009/1 (ExAC)
                                    G=0.000009/2 (GnomAD_exomes)
                                    G=0.000071/10 (GnomAD)
                                    G=0.000072/19 (TOPMED)
                                    HGVS:
                                    18.

                                    rs772421893 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      15:25239844 (GRCh38)
                                      15:25484991 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:25239843:A:G
                                      Gene:
                                      SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000026/6 (GnomAD_exomes)
                                      G=0.000027/3 (ExAC)
                                      G=0.000142/2 (TOMMO)
                                      HGVS:
                                      19.

                                      rs759762095 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        15:25239868 (GRCh38)
                                        15:25485015 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:25239867:G:A
                                        Gene:
                                        SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000009/1 (ExAC)
                                        HGVS:
                                        20.

                                        rs757299496 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GA>- [Show Flanks]
                                          Chromosome:
                                          15:25239875 (GRCh38)
                                          15:25485022 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:25239869:AGAGAGA:AGAGA
                                          Gene:
                                          SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          -=0.000009/1 (ExAC)
                                          HGVS:

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