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Links from Nucleotide

Items: 1 to 20 of 39

1.

rs1479613627 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    15:25099591 (GRCh38)
    15:25344738 (GRCh37)
    Canonical SPDI:
    NC_000015.10:25099590:G:A
    Gene:
    SNORD116-26 (Varview), SNORD116-27 (Varview), SNHG14 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1460168012 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      15:25099572 (GRCh38)
      15:25344719 (GRCh37)
      Canonical SPDI:
      NC_000015.10:25099571:G:A
      Gene:
      SNORD116-26 (Varview), SNHG14 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1444062843 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        15:25099555 (GRCh38)
        15:25344702 (GRCh37)
        Canonical SPDI:
        NC_000015.10:25099554:G:C
        Gene:
        SNORD116-26 (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:
        4.

        rs1378036161 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          15:25099574 (GRCh38)
          15:25344721 (GRCh37)
          Canonical SPDI:
          NC_000015.10:25099573:C:A
          Gene:
          SNORD116-26 (Varview), SNORD116-27 (Varview), SNHG14 (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
          HGVS:
          5.

          rs1322757412 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            15:25099580 (GRCh38)
            15:25344727 (GRCh37)
            Canonical SPDI:
            NC_000015.10:25099579:T:C
            Gene:
            SNORD116-26 (Varview), SNORD116-27 (Varview), SNHG14 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1311278243 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              15:25099587 (GRCh38)
              15:25344734 (GRCh37)
              Canonical SPDI:
              NC_000015.10:25099586:T:A
              Gene:
              SNORD116-26 (Varview), SNORD116-27 (Varview), SNHG14 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1242773013 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                15:25099576 (GRCh38)
                15:25344723 (GRCh37)
                Canonical SPDI:
                NC_000015.10:25099575:C:A
                Gene:
                SNORD116-26 (Varview), SNORD116-27 (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:
                8.

                rs1160617778 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  15:25099540 (GRCh38)
                  15:25344687 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:25099539:C:A
                  Gene:
                  SNORD116-26 (Varview), SNHG14 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1044544040 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    15:25099542 (GRCh38)
                    15:25344689 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:25099541:G:T
                    Gene:
                    SNORD116-26 (Varview), SNHG14 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.5/1 (Siberian)
                    HGVS:
                    10.

                    rs1016695629 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      15:25099532 (GRCh38)
                      15:25344679 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:25099531:A:C,NC_000015.10:25099531:A:G
                      Gene:
                      SNORD116-26 (Varview), SNHG14 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      C=0.000009/2 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs978383842 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        15:25099588 (GRCh38)
                        15:25344735 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:25099587:G:A,NC_000015.10:25099587:G:T
                        Gene:
                        SNORD116-26 (Varview), SNORD116-27 (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:
                        T=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs886986576 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          15:25099507 (GRCh38)
                          15:25344654 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:25099506:G:A,NC_000015.10:25099506:G:T
                          Gene:
                          SNORD116-26 (Varview), SNHG14 (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)
                          HGVS:
                          13.

                          rs866386982 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            15:25099563 (GRCh38)
                            15:25344710 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:25099562:C:T
                            Gene:
                            SNORD116-26 (Varview), SNHG14 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            HGVS:
                            14.

                            rs781754203 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:25099561 (GRCh38)
                              15:25344708 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:25099560:A:G
                              Gene:
                              SNORD116-26 (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 (TOPMED)
                              G=0.000009/1 (ExAC)
                              G=0.000009/2 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs781650279 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                15:25099506 (GRCh38)
                                15:25344653 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:25099505:T:C
                                Gene:
                                SNORD116-26 (Varview), SNHG14 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000009/1 (ExAC)
                                HGVS:
                                16.

                                rs780149662 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:25099594 (GRCh38)
                                  15:25344741 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:25099593:C:T
                                  Gene:
                                  SNORD116-26 (Varview), SNORD116-27 (Varview), SNHG14 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000009/1 (ExAC)
                                  HGVS:
                                  17.

                                  rs778160527 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    15:25099501 (GRCh38)
                                    15:25344648 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:25099500:A:G
                                    Gene:
                                    SNORD116-26 (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./0 (GnomAD)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000009/1 (ExAC)
                                    HGVS:
                                    18.

                                    rs775772724 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      15:25099523 (GRCh38)
                                      15:25344670 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:25099522:A:G
                                      Gene:
                                      SNORD116-26 (Varview), SNHG14 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000009/1 (ExAC)
                                      G=0.000035/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs774275910 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:25099531 (GRCh38)
                                        15:25344678 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:25099530:C:T
                                        Gene:
                                        SNORD116-26 (Varview), SNHG14 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000009/1 (ExAC)
                                        T=0.000021/3 (GnomAD)
                                        T=0.000023/6 (TOPMED)
                                        HGVS:
                                        20.

                                        rs773033207 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          15:25099535 (GRCh38)
                                          15:25344682 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:25099534:G:A
                                          Gene:
                                          SNORD116-26 (Varview), SNHG14 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000053/6 (ExAC)
                                          A=0.000064/9 (GnomAD)
                                          A=0.000069/16 (GnomAD_exomes)
                                          A=0.000083/22 (TOPMED)
                                          HGVS:

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