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Links from Gene

Items: 1 to 20 of 757

1.

rs1489828006 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:75399228 (GRCh38)
    11:75110272 (GRCh37)
    Canonical SPDI:
    NC_000011.10:75399227:G:A
    Gene:
    SNORD15A (Varview), RPS3 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000064/9 (GnomAD)
    A=0.000113/30 (TOPMED)
    A=0.000312/2 (1000Genomes)
    HGVS:
    2.

    rs1488884371 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C,T [Show Flanks]
      Chromosome:
      11:75400997 (GRCh38)
      11:75112041 (GRCh37)
      Canonical SPDI:
      NC_000011.10:75400996:G:A,NC_000011.10:75400996:G:C,NC_000011.10:75400996:G:T
      Gene:
      SNORD15A (Varview), RPS3 (Varview)
      Functional Consequence:
      downstream_transcript_variant,intron_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1488237623 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        11:75400202 (GRCh38)
        11:75111246 (GRCh37)
        Canonical SPDI:
        NC_000011.10:75400201:G:C
        Gene:
        SNORD15A (Varview), RPS3 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1485810697 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          11:75399815 (GRCh38)
          11:75110859 (GRCh37)
          Canonical SPDI:
          NC_000011.10:75399814:C:G
          Gene:
          SNORD15A (Varview), RPS3 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000015/4 (TOPMED)
          G=0.000156/1 (1000Genomes)
          HGVS:
          5.

          rs1485159967 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A,C [Show Flanks]
            Chromosome:
            11:75399136 (GRCh38)
            11:75110180 (GRCh37)
            Canonical SPDI:
            NC_000011.10:75399135:T:A,NC_000011.10:75399135:T:C
            Gene:
            SNORD15A (Varview), RPS3 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1483642952 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:75400087 (GRCh38)
              11:75111131 (GRCh37)
              Canonical SPDI:
              NC_000011.10:75400086:T:C
              Gene:
              SNORD15A (Varview), RPS3 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000142/2 (ALFA)
              C=0.000019/5 (TOPMED)
              C=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1483537207 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                11:75400933 (GRCh38)
                11:75111977 (GRCh37)
                Canonical SPDI:
                NC_000011.10:75400932:A:C
                Gene:
                SNORD15A (Varview), RPS3 (Varview)
                Functional Consequence:
                intron_variant,downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1482793142 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  11:75399980 (GRCh38)
                  11:75111024 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:75399979:C:G
                  Gene:
                  SNORD15A (Varview), RPS3 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1481582392 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    11:75398875 (GRCh38)
                    11:75109919 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:75398874:TTTT:TTT
                    Gene:
                    SNORD15A (Varview), RPS3 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TTT=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1477345003 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:75399699 (GRCh38)
                      11:75110743 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:75399698:C:T
                      Gene:
                      SNORD15A (Varview), RPS3 (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=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1476221472 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:75398671 (GRCh38)
                        11:75109715 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:75398670:G:A
                        Gene:
                        SNORD15A (Varview), RPS3 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1475924025 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          11:75400852 (GRCh38)
                          11:75111896 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:75400851:T:G
                          Gene:
                          SNORD15A (Varview), RPS3 (Varview)
                          Functional Consequence:
                          intron_variant,downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1475283587 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            11:75399948 (GRCh38)
                            11:75110992 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:75399947:A:G
                            Gene:
                            SNORD15A (Varview), RPS3 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1475233491 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:75399123 (GRCh38)
                              11:75110167 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:75399122:A:G
                              Gene:
                              SNORD15A (Varview), RPS3 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1475222509 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:75398850 (GRCh38)
                                11:75109894 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:75398849:G:A
                                Gene:
                                SNORD15A (Varview), RPS3 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1474881570 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  11:75399288 (GRCh38)
                                  11:75110332 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:75399287:A:C
                                  Gene:
                                  SNORD15A (Varview), RPS3 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000023/6 (TOPMED)
                                  C=0.000106/3 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1474643736 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    11:75399258 (GRCh38)
                                    11:75110302 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:75399257:T:C
                                    Gene:
                                    SNORD15A (Varview), RPS3 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1473439428 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      11:75400976 (GRCh38)
                                      11:75112020 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:75400975:G:A,NC_000011.10:75400975:G:T
                                      Gene:
                                      SNORD15A (Varview), RPS3 (Varview)
                                      Functional Consequence:
                                      intron_variant,downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000546/1 (Korea1K)
                                      HGVS:
                                      19.

                                      rs1472385169 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        11:75400922 (GRCh38)
                                        11:75111966 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:75400921:C:A,NC_000011.10:75400921:C:G
                                        Gene:
                                        SNORD15A (Varview), RPS3 (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 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1470859421 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          11:75399805 (GRCh38)
                                          11:75110849 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:75399804:C:G
                                          Gene:
                                          SNORD15A (Varview), RPS3 (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:

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