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Links from Nucleotide

Items: 1 to 20 of 162

1.

rs1489734614 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    17:17759165 (GRCh38)
    17:17662479 (GRCh37)
    Canonical SPDI:
    NC_000017.11:17759164:G:T
    Gene:
    RAI1 (Varview), RAI1-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1487781557 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      17:17766117 (GRCh38)
      17:17669431 (GRCh37)
      Canonical SPDI:
      NC_000017.11:17766116:C:G,NC_000017.11:17766116:C:T
      Gene:
      RAI1 (Varview), RAI1-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1476672308 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        17:17765888 (GRCh38)
        17:17669202 (GRCh37)
        Canonical SPDI:
        NC_000017.11:17765887:C:G
        Gene:
        RAI1 (Varview), RAI1-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_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:
        4.

        rs1474897775 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T [Show Flanks]
          Chromosome:
          17:17759345 (GRCh38)
          17:17662660 (GRCh37)
          Canonical SPDI:
          NC_000017.11:17759345:TT:TTT
          Gene:
          RAI1 (Varview), RAI1-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          TTT=0./0 (ALFA)
          HGVS:
          5.

          rs1473569040 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            17:17759273 (GRCh38)
            17:17662587 (GRCh37)
            Canonical SPDI:
            NC_000017.11:17759272:A:G
            Gene:
            RAI1 (Varview), RAI1-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.00007/1 (ALFA)
            HGVS:
            6.

            rs1468552806 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              17:17759330 (GRCh38)
              17:17662644 (GRCh37)
              Canonical SPDI:
              NC_000017.11:17759329:A:G
              Gene:
              RAI1 (Varview), RAI1-AS1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1465007252 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:17759362 (GRCh38)
                17:17662676 (GRCh37)
                Canonical SPDI:
                NC_000017.11:17759361:A:G
                Gene:
                RAI1 (Varview), RAI1-AS1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000014/2 (GnomAD)
                G=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1446232128 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:17766216 (GRCh38)
                  17:17669530 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:17766215:C:T
                  Gene:
                  RAI1 (Varview), RAI1-AS1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1445901102 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    17:17759277 (GRCh38)
                    17:17662591 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:17759276:T:G
                    Gene:
                    RAI1 (Varview), RAI1-AS1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1444382718 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:17766097 (GRCh38)
                      17:17669411 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:17766096:G:A
                      Gene:
                      RAI1 (Varview), RAI1-AS1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1441077868 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:17765930 (GRCh38)
                        17:17669244 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:17765929:G:A
                        Gene:
                        RAI1 (Varview), RAI1-AS1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000011/3 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1438658552 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          17:17766065 (GRCh38)
                          17:17669379 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:17766064:G:T
                          Gene:
                          RAI1 (Varview), RAI1-AS1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1437941296 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            17:17766077 (GRCh38)
                            17:17669391 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:17766076:C:A
                            Gene:
                            RAI1 (Varview), RAI1-AS1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1437507113 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:17759302 (GRCh38)
                              17:17662616 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:17759301:C:T
                              Gene:
                              RAI1 (Varview), RAI1-AS1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1432973517 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                GC>- [Show Flanks]
                                Chromosome:
                                17:17759374 (GRCh38)
                                17:17662688 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:17759373:GC:
                                Gene:
                                RAI1 (Varview), RAI1-AS1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000008/2 (TOPMED)
                                -=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1431993223 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  17:17766286 (GRCh38)
                                  17:17669600 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:17766285:A:C
                                  Gene:
                                  RAI1 (Varview), RAI1-AS1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000021/3 (GnomAD)
                                  C=0.000042/11 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1429363356 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:17766296 (GRCh38)
                                    17:17669610 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:17766295:A:G
                                    Gene:
                                    RAI1 (Varview), RAI1-AS1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1404501562 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      17:17759194 (GRCh38)
                                      17:17662508 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:17759193:G:T
                                      Gene:
                                      RAI1 (Varview), RAI1-AS1 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1403230826 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:17766193 (GRCh38)
                                        17:17669507 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:17766192:C:T
                                        Gene:
                                        RAI1 (Varview), RAI1-AS1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1401749365 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          17:17765832 (GRCh38)
                                          17:17669146 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:17765831:GGGG:GGG
                                          Gene:
                                          RAI1 (Varview), RAI1-AS1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GGG=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:

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