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Links from Gene

Items: 1 to 20 of 791

1.

rs1490554662 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    15:25239059 (GRCh38)
    15:25484206 (GRCh37)
    Canonical SPDI:
    NC_000015.10:25239058:G:C
    Gene:
    SNORD115-38 (Varview), SNHG14 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000008/2 (TOPMED)
    C=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1489393892 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      15:25240179 (GRCh38)
      15:25485326 (GRCh37)
      Canonical SPDI:
      NC_000015.10:25240178:A:G
      Gene:
      SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
      Functional Consequence:
      upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      G=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1488367448 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        15:25238713 (GRCh38)
        15:25483860 (GRCh37)
        Canonical SPDI:
        NC_000015.10:25238712:G:A,NC_000015.10:25238712:G:C
        Gene:
        SNORD115-38 (Varview), SNHG14 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        A=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1487870197 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:25239830 (GRCh38)
          15:25484977 (GRCh37)
          Canonical SPDI:
          NC_000015.10:25239829:C:T
          Gene:
          SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000011/3 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1487620620 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            15:25239719 (GRCh38)
            15:25484866 (GRCh37)
            Canonical SPDI:
            NC_000015.10:25239718:C:T
            Gene:
            SNORD115-38 (Varview), SNHG14 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000019/5 (TOPMED)
            T=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1486159026 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ATAG>- [Show Flanks]
              Chromosome:
              15:25240247 (GRCh38)
              15:25485394 (GRCh37)
              Canonical SPDI:
              NC_000015.10:25240243:TAGATAG:TAG
              Gene:
              SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
              Functional Consequence:
              upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TAG=0./0 (ALFA)
              -=0.000014/2 (GnomAD)
              -=0.000019/5 (TOPMED)
              -=0.000035/1 (TOMMO)
              HGVS:
              7.

              rs1483990113 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                15:25239573 (GRCh38)
                15:25484720 (GRCh37)
                Canonical SPDI:
                NC_000015.10:25239572:G:A
                Gene:
                SNORD115-38 (Varview), SNHG14 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1482846422 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  15:25238786 (GRCh38)
                  15:25483933 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:25238785:G:A,NC_000015.10:25238785:G:T
                  Gene:
                  SNORD115-38 (Varview), SNHG14 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1481570288 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    15:25237950 (GRCh38)
                    15:25483097 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:25237949:C:T
                    Gene:
                    SNORD115-37 (Varview), SNORD115-38 (Varview), SNHG14 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1479594002 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      15:25238155 (GRCh38)
                      15:25483302 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:25238154:C:A,NC_000015.10:25238154:C:T
                      Gene:
                      SNORD115-37 (Varview), SNORD115-38 (Varview), SNHG14 (Varview)
                      Functional Consequence:
                      intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1479260908 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        15:25240165 (GRCh38)
                        15:25485312 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:25240164:C:A
                        Gene:
                        SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
                        Functional Consequence:
                        intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_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:
                        12.

                        rs1478830599 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          15:25240258 (GRCh38)
                          15:25485405 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:25240257:G:T
                          Gene:
                          SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
                          Functional Consequence:
                          intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1477846547 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            15:25238768 (GRCh38)
                            15:25483915 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:25238767:A:C
                            Gene:
                            SNORD115-38 (Varview), SNHG14 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1471879026 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:25239256 (GRCh38)
                              15:25484403 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:25239255:C:T
                              Gene:
                              SNORD115-38 (Varview), SNHG14 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1471303839 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                15:25240219 (GRCh38)
                                15:25485366 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:25240218:G:A,NC_000015.10:25240218:G:C
                                Gene:
                                SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
                                Functional Consequence:
                                intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1470711841 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:25239598 (GRCh38)
                                  15:25484745 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:25239597:C:T
                                  Gene:
                                  SNORD115-38 (Varview), SNHG14 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1470123437 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    15:25239217 (GRCh38)
                                    15:25484364 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:25239216:G:T
                                    Gene:
                                    SNORD115-38 (Varview), SNHG14 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000389/7 (TOMMO)
                                    T=0.001369/4 (KOREAN)
                                    T=0.00463/1 (Vietnamese)
                                    HGVS:
                                    18.

                                    rs1469630016 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      15:25239587 (GRCh38)
                                      15:25484734 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:25239586:C:G,NC_000015.10:25239586:C:T
                                      Gene:
                                      SNORD115-38 (Varview), SNHG14 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000132/2 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000064/9 (GnomAD)
                                      T=0.000156/1 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1469267077 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:25240070 (GRCh38)
                                        15:25485217 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:25240069:C:T
                                        Gene:
                                        SNORD115-38 (Varview), SNORD115-39 (Varview), SNHG14 (Varview)
                                        Functional Consequence:
                                        intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_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:
                                        20.

                                        rs1467250160 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          15:25238747 (GRCh38)
                                          15:25483894 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:25238746:G:A
                                          Gene:
                                          SNORD115-38 (Varview), SNHG14 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000142/2 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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