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Items: 1 to 20 of 836

1.

rs1488799803 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    15:25243818 (GRCh38)
    15:25488965 (GRCh37)
    Canonical SPDI:
    NC_000015.10:25243817:G:A,NC_000015.10:25243817:G:C
    Gene:
    SNORD115-40 (Varview), SNORD115-41 (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:
    C=0./0 (ALFA)
    HGVS:
    2.

    rs1487824049 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      15:25244179 (GRCh38)
      15:25489326 (GRCh37)
      Canonical SPDI:
      NC_000015.10:25244178:A:G
      Gene:
      SNORD115-40 (Varview), SNORD115-41 (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=0.000036/5 (GnomAD)
      G=0.000156/1 (1000Genomes)
      HGVS:
      3.

      rs1487164778 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        15:25244065 (GRCh38)
        15:25489212 (GRCh37)
        Canonical SPDI:
        NC_000015.10:25244064:T:C
        Gene:
        SNORD115-40 (Varview), SNORD115-41 (Varview), SNHG14 (Varview)
        Functional Consequence:
        upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1486048426 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          15:25242090 (GRCh38)
          15:25487237 (GRCh37)
          Canonical SPDI:
          NC_000015.10:25242089:A:G
          Gene:
          SNORD115-39 (Varview), SNORD115-40 (Varview), SNHG14 (Varview)
          Functional Consequence:
          upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency
          MAF:
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1485686665 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            15:25242920 (GRCh38)
            15:25488067 (GRCh37)
            Canonical SPDI:
            NC_000015.10:25242919:T:G
            Gene:
            SNORD115-40 (Varview), SNHG14 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000038/10 (TOPMED)
            G=0.000043/6 (GnomAD)
            HGVS:
            6.

            rs1485644688 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              15:25242458 (GRCh38)
              15:25487605 (GRCh37)
              Canonical SPDI:
              NC_000015.10:25242457:G:A
              Gene:
              SNORD115-40 (Varview), SNHG14 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1485512296 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:25243199 (GRCh38)
                15:25488346 (GRCh37)
                Canonical SPDI:
                NC_000015.10:25243198:A:G
                Gene:
                SNORD115-40 (Varview), SNHG14 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000021/3 (GnomAD)
                G=0.000023/6 (TOPMED)
                HGVS:
                8.

                rs1485428569 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  15:25242239 (GRCh38)
                  15:25487386 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:25242238:G:A,NC_000015.10:25242238:G:C,NC_000015.10:25242238:G:T
                  Gene:
                  SNORD115-39 (Varview), SNORD115-40 (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:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1484882246 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    15:25243452 (GRCh38)
                    15:25488599 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:25243451:G:A
                    Gene:
                    SNORD115-40 (Varview), SNHG14 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1481009731 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      15:25242431 (GRCh38)
                      15:25487578 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:25242430:C:A,NC_000015.10:25242430:C:T
                      Gene:
                      SNORD115-40 (Varview), SNHG14 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1479281316 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        15:25243808 (GRCh38)
                        15:25488955 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:25243807:C:A
                        Gene:
                        SNORD115-40 (Varview), SNORD115-41 (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:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1478789832 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          15:25243579 (GRCh38)
                          15:25488726 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:25243578:T:C
                          Gene:
                          SNORD115-40 (Varview), SNORD115-41 (Varview), SNHG14 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1478462840 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            15:25243862 (GRCh38)
                            15:25489009 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:25243861:G:T
                            Gene:
                            SNORD115-40 (Varview), SNORD115-41 (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=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1477505330 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              15:25243503 (GRCh38)
                              15:25488650 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:25243502:T:C
                              Gene:
                              SNORD115-40 (Varview), SNORD115-41 (Varview), SNHG14 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,upstream_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)
                              HGVS:
                              15.

                              rs1476885626 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->TCTG [Show Flanks]
                                Chromosome:
                                15:25243542 (GRCh38)
                                15:25488690 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:25243542::TCTG
                                Gene:
                                SNORD115-40 (Varview), SNORD115-41 (Varview), SNHG14 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TCTG=0.000084/1 (ALFA)
                                TCTG=0.000023/6 (TOPMED)
                                TCTG=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1476821760 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:25244112 (GRCh38)
                                  15:25489259 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:25244111:C:T
                                  Gene:
                                  SNORD115-40 (Varview), SNORD115-41 (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:
                                  17.

                                  rs1476710178 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:25242744 (GRCh38)
                                    15:25487891 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:25242743:C:T
                                    Gene:
                                    SNORD115-40 (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=0.000026/7 (TOPMED)
                                    T=0.000029/4 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1476205321 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      15:25242160 (GRCh38)
                                      15:25487307 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:25242159:G:A
                                      Gene:
                                      SNORD115-39 (Varview), SNORD115-40 (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:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1476027069 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        15:25243186 (GRCh38)
                                        15:25488333 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:25243185:C:G,NC_000015.10:25243185:C:T
                                        Gene:
                                        SNORD115-40 (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)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1472700099 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          15:25243653 (GRCh38)
                                          15:25488800 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:25243652:T:C
                                          Gene:
                                          SNORD115-40 (Varview), SNORD115-41 (Varview), SNHG14 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:

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