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Links from Nucleotide

Items: 1 to 20 of 121

1.

rs1487820642 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    15:65296051 (GRCh38)
    15:65588389 (GRCh37)
    Canonical SPDI:
    NC_000015.10:65296050:A:G
    Gene:
    RNU5A-1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000285/4 (ALFA)
    G=0.000029/4 (GnomAD)
    G=0.000049/13 (TOPMED)
    G=0.000283/5 (TOMMO)
    G=0.000684/2 (KOREAN)
    HGVS:
    2.

    rs1476748106 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      15:65296055 (GRCh38)
      15:65588393 (GRCh37)
      Canonical SPDI:
      NC_000015.10:65296054:T:C,NC_000015.10:65296054:T:G
      Gene:
      RNU5A-1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1438337833 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        15:65296160 (GRCh38)
        15:65588499 (GRCh37)
        Canonical SPDI:
        NC_000015.10:65296160::T
        Gene:
        RNU5A-1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000021/3 (GnomAD)
        T=0.000071/1 (TOMMO)
        T=0.000546/1 (Korea1K)
        HGVS:
        4.

        rs1431834068 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          15:65296111 (GRCh38)
          15:65588449 (GRCh37)
          Canonical SPDI:
          NC_000015.10:65296110:A:G
          Gene:
          RNU5A-1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000142/2 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1426516937 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            15:65296134 (GRCh38)
            15:65588472 (GRCh37)
            Canonical SPDI:
            NC_000015.10:65296133:CCC:CC
            Gene:
            RNU5A-1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            CC=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1421330038 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G,T [Show Flanks]
              Chromosome:
              15:65296119 (GRCh38)
              15:65588457 (GRCh37)
              Canonical SPDI:
              NC_000015.10:65296118:A:C,NC_000015.10:65296118:A:G,NC_000015.10:65296118:A:T
              Gene:
              RNU5A-1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1421109488 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                A>- [Show Flanks]
                Chromosome:
                15:65296101 (GRCh38)
                15:65588439 (GRCh37)
                Canonical SPDI:
                NC_000015.10:65296100:A:
                Gene:
                RNU5A-1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:
                8.

                rs1409594053 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ACT>- [Show Flanks]
                  Chromosome:
                  15:65296053 (GRCh38)
                  15:65588391 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:65296051:TACT:T
                  Gene:
                  RNU5A-1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1408816265 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    15:65296060 (GRCh38)
                    15:65588398 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:65296059:TTT:TT
                    Gene:
                    RNU5A-1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TT=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1399463113 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      A>-,AA [Show Flanks]
                      Chromosome:
                      15:65296078 (GRCh38)
                      15:65588416 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:65296077:AAA:AA,NC_000015.10:65296077:AAA:AAAA
                      Gene:
                      RNU5A-1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AAAA=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1385760860 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->ACCCAAT [Show Flanks]
                        Chromosome:
                        15:65296132 (GRCh38)
                        15:65588471 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:65296132:ACCCAAT:ACCCAATACCCAAT
                        Gene:
                        RNU5A-1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        ACCCAATACCCAAT=0.000071/1 (ALFA)
                        ACCCAAT=0.000011/3 (TOPMED)
                        ACCCAAT=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1384044928 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          15:65296135 (GRCh38)
                          15:65588473 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:65296134:C:A,NC_000015.10:65296134:C:G,NC_000015.10:65296134:C:T
                          Gene:
                          RNU5A-1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1378398279 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->G,GG [Show Flanks]
                            Chromosome:
                            15:65296157 (GRCh38)
                            15:65588496 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:65296157:GG:GGG,NC_000015.10:65296157:GG:GGGG
                            Gene:
                            RNU5A-1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GGGG=0./0 (ALFA)
                            GG=0.000004/1 (TOPMED)
                            GG=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1373261134 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              15:65296138 (GRCh38)
                              15:65588477 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:65296138:TTTTTT:TTTTTTT
                              Gene:
                              RNU5A-1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTT=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              T=0.000035/1 (TOMMO)
                              HGVS:
                              15.

                              rs1359727412 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G [Show Flanks]
                                Chromosome:
                                15:65296099 (GRCh38)
                                15:65588437 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:65296098:A:C,NC_000015.10:65296098:A:G
                                Gene:
                                RNU5A-1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1345975208 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G,T [Show Flanks]
                                  Chromosome:
                                  15:65296069 (GRCh38)
                                  15:65588407 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:65296068:A:C,NC_000015.10:65296068:A:G,NC_000015.10:65296068:A:T
                                  Gene:
                                  RNU5A-1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  G=0.000035/1 (TOMMO)
                                  C=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1344863373 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->A [Show Flanks]
                                    Chromosome:
                                    15:65296058 (GRCh38)
                                    15:65588397 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:65296058::A
                                    Gene:
                                    RNU5A-1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1338952858 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      15:65296146 (GRCh38)
                                      15:65588484 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:65296145:A:G
                                      Gene:
                                      RNU5A-1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1338610043 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C,G [Show Flanks]
                                        Chromosome:
                                        15:65296077 (GRCh38)
                                        15:65588415 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:65296076:T:A,NC_000015.10:65296076:T:C,NC_000015.10:65296076:T:G
                                        Gene:
                                        RNU5A-1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.00004/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1329965962 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          15:65296151 (GRCh38)
                                          15:65588489 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:65296150:T:G
                                          Gene:
                                          RNU5A-1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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