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Items: 1 to 20 of 859

1.

rs1490530996 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    15:25225400 (GRCh38)
    15:25470547 (GRCh37)
    Canonical SPDI:
    NC_000015.10:25225399:T:C
    Gene:
    SNORD115-30 (Varview), SNORD115-31 (Varview), SNHG14 (Varview)
    Functional Consequence:
    upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency
    MAF:
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490350890 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G [Show Flanks]
      Chromosome:
      15:25227125 (GRCh38)
      15:25472272 (GRCh37)
      Canonical SPDI:
      NC_000015.10:25227124:C:A,NC_000015.10:25227124:C:G
      Gene:
      SNORD115-31 (Varview), SNORD115-32 (Varview), SNHG14 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,non_coding_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:
      3.

      rs1489483912 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        15:25226790 (GRCh38)
        15:25471937 (GRCh37)
        Canonical SPDI:
        NC_000015.10:25226789:A:C
        Gene:
        SNORD115-31 (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=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1487148583 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          15:25225951 (GRCh38)
          15:25471098 (GRCh37)
          Canonical SPDI:
          NC_000015.10:25225950:T:G
          Gene:
          SNORD115-31 (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=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1485250160 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            15:25225623 (GRCh38)
            15:25470770 (GRCh37)
            Canonical SPDI:
            NC_000015.10:25225622:T:C
            Gene:
            SNORD115-30 (Varview), SNORD115-31 (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./0 (GnomAD)
            HGVS:
            6.

            rs1484075038 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              15:25226665 (GRCh38)
              15:25471812 (GRCh37)
              Canonical SPDI:
              NC_000015.10:25226664:G:A
              Gene:
              SNORD115-31 (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=0.000142/2 (TOMMO)
              HGVS:
              7.

              rs1483814909 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                15:25227111 (GRCh38)
                15:25472258 (GRCh37)
                Canonical SPDI:
                NC_000015.10:25227110:G:A,NC_000015.10:25227110:G:T
                Gene:
                SNORD115-31 (Varview), SNORD115-32 (Varview), SNHG14 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1482432421 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  15:25226024 (GRCh38)
                  15:25471171 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:25226023:A:G
                  Gene:
                  SNORD115-31 (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=0.000019/5 (TOPMED)
                  G=0.000029/4 (GnomAD)
                  HGVS:
                  9.

                  rs1481275743 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    15:25225925 (GRCh38)
                    15:25471072 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:25225924:T:A,NC_000015.10:25225924:T:C
                    Gene:
                    SNORD115-31 (Varview), SNHG14 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1480856730 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      15:25225820 (GRCh38)
                      15:25470967 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:25225819:T:C
                      Gene:
                      SNORD115-31 (Varview), SNHG14 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1478543435 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:25226580 (GRCh38)
                        15:25471727 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:25226579:G:A
                        Gene:
                        SNORD115-31 (Varview), SNHG14 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1475110029 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          15:25227538 (GRCh38)
                          15:25472685 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:25227537:T:A
                          Gene:
                          SNORD115-31 (Varview), SNORD115-32 (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=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1474817541 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            15:25226304 (GRCh38)
                            15:25471451 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:25226303:G:A
                            Gene:
                            SNORD115-31 (Varview), SNHG14 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1474194866 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              15:25226365 (GRCh38)
                              15:25471512 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:25226364:C:G,NC_000015.10:25226364:C:T
                              Gene:
                              SNORD115-31 (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=0.000029/4 (GnomAD)
                              HGVS:
                              15.

                              rs1473622322 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                15:25226550 (GRCh38)
                                15:25471697 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:25226549:G:A,NC_000015.10:25226549:G:T
                                Gene:
                                SNORD115-31 (Varview), SNHG14 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000108/2 (ALFA)
                                A=0.000036/5 (GnomAD)
                                A=0.000446/2 (Estonian)
                                HGVS:
                                16.

                                rs1473343371 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  15:25227482 (GRCh38)
                                  15:25472629 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:25227481:T:G
                                  Gene:
                                  SNORD115-31 (Varview), SNORD115-32 (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:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1473327672 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:25226853 (GRCh38)
                                    15:25472000 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:25226852:C:T
                                    Gene:
                                    SNORD115-31 (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:
                                    18.

                                    rs1472556298 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      15:25225451 (GRCh38)
                                      15:25470598 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:25225450:G:A
                                      Gene:
                                      SNORD115-30 (Varview), SNORD115-31 (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=0.000071/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1471846361 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        15:25226340 (GRCh38)
                                        15:25471487 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:25226339:C:A
                                        Gene:
                                        SNORD115-31 (Varview), SNHG14 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.0002/1 (ALFA)
                                        A=0.0002/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1470890277 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          15:25227583 (GRCh38)
                                          15:25472730 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:25227582:C:T
                                          Gene:
                                          SNORD115-31 (Varview), SNORD115-32 (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:

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