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Links from Nucleotide

Items: 1 to 20 of 62

1.

rs1464013251 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    11:75400461 (GRCh38)
    11:75111505 (GRCh37)
    Canonical SPDI:
    NC_000011.10:75400460:G:C
    Gene:
    SNORD15A (Varview), RPS3 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000019/5 (TOPMED)
    HGVS:
    2.

    rs1461760221 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      11:75400522 (GRCh38)
      11:75111566 (GRCh37)
      Canonical SPDI:
      NC_000011.10:75400521:G:A,NC_000011.10:75400521:G:T
      Gene:
      SNORD15A (Varview), RPS3 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1439503634 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:75400434 (GRCh38)
        11:75111478 (GRCh37)
        Canonical SPDI:
        NC_000011.10:75400433:C:T
        Gene:
        SNORD15A (Varview), RPS3 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1432005834 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:75400407 (GRCh38)
          11:75111451 (GRCh37)
          Canonical SPDI:
          NC_000011.10:75400406:A:G
          Gene:
          SNORD15A (Varview), RPS3 (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 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1425330931 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:75400406 (GRCh38)
            11:75111450 (GRCh37)
            Canonical SPDI:
            NC_000011.10:75400405:G:A
            Gene:
            SNORD15A (Varview), RPS3 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000009/2 (GnomAD_exomes)
            HGVS:
            6.

            rs1421805636 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              11:75400481 (GRCh38)
              11:75111525 (GRCh37)
              Canonical SPDI:
              NC_000011.10:75400480:A:T
              Gene:
              SNORD15A (Varview), RPS3 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1401982745 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                11:75400486 (GRCh38)
                11:75111530 (GRCh37)
                Canonical SPDI:
                NC_000011.10:75400485:C:A,NC_000011.10:75400485:C:T
                Gene:
                SNORD15A (Varview), RPS3 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000007/1 (GnomAD)
                T=0.000011/3 (TOPMED)
                A=0.000035/1 (TOMMO)
                HGVS:
                8.

                rs1394592849 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:75400487 (GRCh38)
                  11:75111531 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:75400486:C:T
                  Gene:
                  SNORD15A (Varview), RPS3 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1392446531 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:75400518 (GRCh38)
                    11:75111562 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:75400517:A:G
                    Gene:
                    SNORD15A (Varview), RPS3 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1384267823 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      11:75400496 (GRCh38)
                      11:75111540 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:75400495:A:G
                      Gene:
                      SNORD15A (Varview), RPS3 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1378591500 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:75400530 (GRCh38)
                        11:75111574 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:75400529:C:T
                        Gene:
                        SNORD15A (Varview), RPS3 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1338447237 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          11:75400414 (GRCh38)
                          11:75111458 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:75400413:G:C,NC_000011.10:75400413:G:T
                          Gene:
                          SNORD15A (Varview), RPS3 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1318539530 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:75400422 (GRCh38)
                            11:75111466 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:75400421:T:C
                            Gene:
                            SNORD15A (Varview), RPS3 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_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:
                            14.

                            rs1297837326 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:75400409 (GRCh38)
                              11:75111453 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:75400408:G:A
                              Gene:
                              SNORD15A (Varview), RPS3 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000009/2 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1293075878 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,G [Show Flanks]
                                Chromosome:
                                11:75400460 (GRCh38)
                                11:75111504 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:75400459:T:A,NC_000011.10:75400459:T:G
                                Gene:
                                SNORD15A (Varview), RPS3 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                A=0.000011/3 (TOPMED)
                                A=0.000035/1 (TOMMO)
                                HGVS:
                                16.

                                rs1289636925 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  11:75400485 (GRCh38)
                                  11:75111529 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:75400484:G:A,NC_000011.10:75400484:G:T
                                  Gene:
                                  SNORD15A (Varview), RPS3 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000029/4 (GnomAD)
                                  T=0.00003/8 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1284679914 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:75400442 (GRCh38)
                                    11:75111486 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:75400441:A:G
                                    Gene:
                                    SNORD15A (Varview), RPS3 (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=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1269413499 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:75400391 (GRCh38)
                                      11:75111435 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:75400390:C:T
                                      Gene:
                                      SNORD15A (Varview), RPS3 (Varview)
                                      Functional Consequence:
                                      non_coding_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)
                                      T=0.000035/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1262213445 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:75400458 (GRCh38)
                                        11:75111502 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:75400457:G:A
                                        Gene:
                                        SNORD15A (Varview), RPS3 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        HGVS:
                                        20.

                                        rs1246566927 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->TGA [Show Flanks]
                                          Chromosome:
                                          11:75400402 (GRCh38)
                                          11:75111447 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:75400402:GATGATGA:GATGATGATGA
                                          Gene:
                                          SNORD15A (Varview), RPS3 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GATGATGATGA=0.000071/1 (ALFA)
                                          GAT=0.000008/2 (TOPMED)
                                          HGVS:

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