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Items: 1 to 20 of 682

1.

rs1486221390 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    15:25041577 (GRCh38)
    15:25286724 (GRCh37)
    Canonical SPDI:
    NC_000015.10:25041576:T:C
    Gene:
    SNORD109A (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:
    2.

    rs1486158499 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      15:25042467 (GRCh38)
      15:25287614 (GRCh37)
      Canonical SPDI:
      NC_000015.10:25042466:C:T
      Gene:
      SNORD109A (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=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1486115470 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        15:25041907 (GRCh38)
        15:25287054 (GRCh37)
        Canonical SPDI:
        NC_000015.10:25041906:A:G
        Gene:
        SNORD109A (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=0.000007/1 (GnomAD)
        G=0.000008/2 (TOPMED)
        G=0.000071/2 (TOMMO)
        HGVS:
        4.

        rs1485563825 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:25042454 (GRCh38)
          15:25287601 (GRCh37)
          Canonical SPDI:
          NC_000015.10:25042453:C:T
          Gene:
          SNORD109A (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=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1484271642 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            15:25040171 (GRCh38)
            15:25285318 (GRCh37)
            Canonical SPDI:
            NC_000015.10:25040170:G:A,NC_000015.10:25040170:G:C
            Gene:
            SNORD109A (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=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1484261312 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G [Show Flanks]
              Chromosome:
              15:25040788 (GRCh38)
              15:25285935 (GRCh37)
              Canonical SPDI:
              NC_000015.10:25040787:C:A,NC_000015.10:25040787:C:G
              Gene:
              SNORD109A (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)
              HGVS:
              7.

              rs1483407245 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                15:25041970 (GRCh38)
                15:25287117 (GRCh37)
                Canonical SPDI:
                NC_000015.10:25041969:G:C
                Gene:
                SNORD109A (Varview), SNHG14 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1482411262 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  15:25042076 (GRCh38)
                  15:25287223 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:25042075:T:G
                  Gene:
                  SNORD109A (Varview), SNHG14 (Varview)
                  Functional Consequence:
                  intron_variant,downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1482202121 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:25040277 (GRCh38)
                    15:25285424 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:25040276:A:G
                    Gene:
                    SNORD109A (Varview), SNHG14 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1478325577 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:25042533 (GRCh38)
                      15:25287680 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:25042532:C:T
                      Gene:
                      SNORD109A (Varview), SNHG14 (Varview)
                      Functional Consequence:
                      intron_variant,500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1477595372 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        15:25041343 (GRCh38)
                        15:25286490 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:25041342:A:G
                        Gene:
                        SNORD109A (Varview), SNHG14 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1477026716 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          C>- [Show Flanks]
                          Chromosome:
                          15:25042089 (GRCh38)
                          15:25287236 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:25042088:C:
                          Gene:
                          SNORD109A (Varview), SNHG14 (Varview)
                          Functional Consequence:
                          intron_variant,500B_downstream_variant,downstream_transcript_variant
                          HGVS:
                          13.

                          rs1476096587 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            15:25042428 (GRCh38)
                            15:25287575 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:25042427:A:G
                            Gene:
                            SNORD109A (Varview), SNHG14 (Varview)
                            Functional Consequence:
                            intron_variant,500B_downstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1474974186 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              15:25042112 (GRCh38)
                              15:25287259 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:25042111:AA:A
                              Gene:
                              SNORD109A (Varview), SNHG14 (Varview)
                              Functional Consequence:
                              intron_variant,500B_downstream_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AA=0./0 (ALFA)
                              -=0.00005/7 (GnomAD)
                              HGVS:
                              15.

                              rs1473575240 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->TTA [Show Flanks]
                                Chromosome:
                                15:25040720 (GRCh38)
                                15:25285868 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:25040720:ATTATTA:ATTATTATTA
                                Gene:
                                SNORD109A (Varview), SNHG14 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ATTATTATTA=0./0 (ALFA)
                                ATT=0.000011/3 (TOPMED)
                                ATT=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1472687482 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TATTTTTTATA>- [Show Flanks]
                                  Chromosome:
                                  15:25040999 (GRCh38)
                                  15:25286146 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:25040989:TTTTTTATATATTTTTTATA:TTTTTTATA
                                  Gene:
                                  SNORD109A (Varview), SNHG14 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTATA=0./0 (ALFA)
                                  -=0.000043/6 (GnomAD)
                                  -=0.000064/17 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1471718430 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    15:25040123 (GRCh38)
                                    15:25285270 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:25040122:G:A
                                    Gene:
                                    SNORD109A (Varview), SNHG14 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000066/1 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000223/1 (Estonian)
                                    HGVS:
                                    18.

                                    rs1469230651 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      15:25040547 (GRCh38)
                                      15:25285694 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:25040546:A:G
                                      Gene:
                                      SNORD109A (Varview), SNHG14 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1468559458 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        15:25041262 (GRCh38)
                                        15:25286409 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:25041261:T:C,NC_000015.10:25041261:T:G
                                        Gene:
                                        SNORD109A (Varview), SNHG14 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1468030577 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          15:25042003 (GRCh38)
                                          15:25287150 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:25042002:A:G
                                          Gene:
                                          SNORD109A (Varview), SNHG14 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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