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Links from Gene

Items: 1 to 20 of 3975

1.

rs1491587524 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    17:78187338 (GRCh38)
    17:76183420 (GRCh37)
    Canonical SPDI:
    NC_000017.11:78187338:G:GG
    Gene:
    TK1 (Varview), AFMID (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    GG=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1491486148 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      17:78187960 (GRCh38)
      17:76184041 (GRCh37)
      Canonical SPDI:
      NC_000017.11:78187959:CA:
      Gene:
      TK1 (Varview), AFMID (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00008/1 (ALFA)
      HGVS:
      3.

      rs1491125281 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->GGG
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1490759510 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:78177341 (GRCh38)
          17:76173422 (GRCh37)
          Canonical SPDI:
          NC_000017.11:78177340:G:A
          Gene:
          TK1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490740082 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            17:78187743 (GRCh38)
            17:76183824 (GRCh37)
            Canonical SPDI:
            NC_000017.11:78187742:G:A,NC_000017.11:78187742:G:C
            Gene:
            TK1 (Varview), AFMID (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1490243676 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:78188798 (GRCh38)
              17:76184879 (GRCh37)
              Canonical SPDI:
              NC_000017.11:78188797:T:C
              Gene:
              TK1 (Varview), AFMID (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000021/3 (GnomAD)
              C=0.001667/1 (NorthernSweden)
              HGVS:
              7.

              rs1489810764 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:78188723 (GRCh38)
                17:76184804 (GRCh37)
                Canonical SPDI:
                NC_000017.11:78188722:A:G
                Gene:
                TK1 (Varview), AFMID (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=0.000019/5 (TOPMED)
                HGVS:
                8.

                rs1489709444 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  17:78187931 (GRCh38)
                  17:76184012 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:78187930:A:T
                  Gene:
                  TK1 (Varview), AFMID (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489656602 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:78174985 (GRCh38)
                    17:76171066 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:78174984:G:A
                    Gene:
                    TK1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000084/1 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489651909 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:78182034 (GRCh38)
                      17:76178115 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:78182033:G:A
                      Gene:
                      TK1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000019/5 (TOPMED)
                      A=0.000036/5 (GnomAD)
                      HGVS:
                      11.

                      rs1489620496 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        17:78178295 (GRCh38)
                        17:76174376 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:78178294:C:A
                        Gene:
                        TK1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1489568263 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          AA>- [Show Flanks]
                          Chromosome:
                          17:78179207 (GRCh38)
                          17:76175288 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:78179206:AA:
                          Gene:
                          TK1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1489441688 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            17:78188665 (GRCh38)
                            17:76184746 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:78188664:G:C
                            Gene:
                            TK1 (Varview), AFMID (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1489283332 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              17:78187068 (GRCh38)
                              17:76183149 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:78187067:G:A,NC_000017.11:78187067:G:T
                              Gene:
                              TK1 (Varview), AFMID (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1489077580 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                17:78183469 (GRCh38)
                                17:76179550 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:78183468:G:A,NC_000017.11:78183468:G:C
                                Gene:
                                TK1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488982404 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  17:78186461 (GRCh38)
                                  17:76182542 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:78186460:C:G
                                  Gene:
                                  TK1 (Varview), AFMID (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488960981 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    17:78185972 (GRCh38)
                                    17:76182053 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:78185971:A:C
                                    Gene:
                                    TK1 (Varview), AFMID (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000014/2 (GnomAD)
                                    C=0.000034/9 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488928175 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      17:78176472 (GRCh38)
                                      17:76172554 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:78176472:TT:TTT
                                      Gene:
                                      TK1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTT=0./0 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      T=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488893512 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        17:78182433 (GRCh38)
                                        17:76178514 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:78182432:T:C
                                        Gene:
                                        TK1 (Varview)
                                        Functional Consequence:
                                        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:
                                        20.

                                        rs1488746588 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          17:78179079 (GRCh38)
                                          17:76175160 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:78179078:G:C
                                          Gene:
                                          TK1 (Varview)
                                          Functional Consequence:
                                          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:

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