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Items: 1 to 20 of 844

1.

rs1489266090 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    15:25194340 (GRCh38)
    15:25439487 (GRCh37)
    Canonical SPDI:
    NC_000015.10:25194339:G:A
    Gene:
    SNORD115-14 (Varview), SNHG14 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    2.

    rs1486680067 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      15:25193144 (GRCh38)
      15:25438291 (GRCh37)
      Canonical SPDI:
      NC_000015.10:25193143:G:A,NC_000015.10:25193143:G:T
      Gene:
      SNORD115-13 (Varview), SNORD115-14 (Varview), SNHG14 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0./0 (KOREAN)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1485928927 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        15:25195058 (GRCh38)
        15:25440205 (GRCh37)
        Canonical SPDI:
        NC_000015.10:25195057:C:A
        Gene:
        SNORD115-14 (Varview), SNHG14 (Varview)
        Functional Consequence:
        intron_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000162/3 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (TOPMED)
        A=0.000446/2 (Estonian)
        HGVS:
        4.

        rs1485667744 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          15:25194060 (GRCh38)
          15:25439207 (GRCh37)
          Canonical SPDI:
          NC_000015.10:25194059:G:A,NC_000015.10:25194059:G:T
          Gene:
          SNORD115-14 (Varview), SNHG14 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1485616123 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            G>- [Show Flanks]
            Chromosome:
            15:25194732 (GRCh38)
            15:25439879 (GRCh37)
            Canonical SPDI:
            NC_000015.10:25194731:GGG:GG
            Gene:
            SNORD115-14 (Varview), SNHG14 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GG=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            -=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1485277156 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              15:25193550 (GRCh38)
              15:25438697 (GRCh37)
              Canonical SPDI:
              NC_000015.10:25193549:G:A,NC_000015.10:25193549:G:C
              Gene:
              SNORD115-13 (Varview), SNORD115-14 (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)
              A=0./0 (GnomAD)
              HGVS:
              7.

              rs1484228930 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                15:25193020 (GRCh38)
                15:25438167 (GRCh37)
                Canonical SPDI:
                NC_000015.10:25193019:C:T
                Gene:
                SNORD115-13 (Varview), SNORD115-14 (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=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1483640089 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  15:25195154 (GRCh38)
                  15:25440301 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:25195153:C:T
                  Gene:
                  SNORD115-14 (Varview), SNHG14 (Varview)
                  Functional Consequence:
                  intron_variant,downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  T=0.000021/3 (GnomAD)
                  T=0.000156/1 (1000Genomes)
                  HGVS:
                  9.

                  rs1482728085 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    15:25193208 (GRCh38)
                    15:25438355 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:25193207:C:G
                    Gene:
                    SNORD115-13 (Varview), SNORD115-14 (Varview), SNHG14 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1481700750 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:25193394 (GRCh38)
                      15:25438541 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:25193393:C:T
                      Gene:
                      SNORD115-13 (Varview), SNORD115-14 (Varview), SNHG14 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1480488303 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C,T [Show Flanks]
                        Chromosome:
                        15:25195044 (GRCh38)
                        15:25440191 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:25195043:G:C,NC_000015.10:25195043:G:T
                        Gene:
                        SNORD115-14 (Varview), SNHG14 (Varview)
                        Functional Consequence:
                        intron_variant,500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1480351257 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          15:25194461 (GRCh38)
                          15:25439608 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:25194460:G:A
                          Gene:
                          SNORD115-14 (Varview), SNHG14 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1478795655 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            15:25195146 (GRCh38)
                            15:25440293 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:25195145:C:T
                            Gene:
                            SNORD115-14 (Varview), SNHG14 (Varview)
                            Functional Consequence:
                            intron_variant,500B_downstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000026/7 (TOPMED)
                            T=0.000029/4 (GnomAD)
                            T=0.000342/1 (KOREAN)
                            T=0.000546/1 (Korea1K)
                            T=0.001168/20 (TOMMO)
                            HGVS:
                            14.

                            rs1478685210 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:25194401 (GRCh38)
                              15:25439548 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:25194400:C:T
                              Gene:
                              SNORD115-14 (Varview), SNHG14 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1478354921 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:25194723 (GRCh38)
                                15:25439870 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:25194722:C:T
                                Gene:
                                SNORD115-14 (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:
                                16.

                                rs1477328054 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  15:25195105 (GRCh38)
                                  15:25440252 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:25195104:G:C
                                  Gene:
                                  SNORD115-14 (Varview), SNHG14 (Varview)
                                  Functional Consequence:
                                  intron_variant,500B_downstream_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000021/3 (GnomAD)
                                  C=0.000023/6 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1476719710 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    A>- [Show Flanks]
                                    Chromosome:
                                    15:25195093 (GRCh38)
                                    15:25440240 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:25195092:A:
                                    Gene:
                                    SNORD115-14 (Varview), SNHG14 (Varview)
                                    Functional Consequence:
                                    intron_variant,500B_downstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000011/3 (TOPMED)
                                    -=0.000043/6 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1475771170 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      15:25193444 (GRCh38)
                                      15:25438591 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:25193443:G:A
                                      Gene:
                                      SNORD115-13 (Varview), SNORD115-14 (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.

                                      rs1475420205 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        15:25193812 (GRCh38)
                                        15:25438959 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:25193811:A:T
                                        Gene:
                                        SNORD115-13 (Varview), SNORD115-14 (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=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1475411110 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          15:25193292 (GRCh38)
                                          15:25438439 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:25193291:C:G
                                          Gene:
                                          SNORD115-13 (Varview), SNORD115-14 (Varview), SNHG14 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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