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Links from Gene

Items: 1 to 20 of 3032

1.

rs1491509806 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->GTC,GTGTC,GTGTG,GTGTGTGTG [Show Flanks]
    Chromosome:
    19:6504834 (GRCh38)
    19:6504846 (GRCh37)
    Canonical SPDI:
    NC_000019.10:6504834::GTC,NC_000019.10:6504834::GTGTC,NC_000019.10:6504834::GTGTG,NC_000019.10:6504834::GTGTGTGTG
    Gene:
    TUBB4A (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    GTGTC=0./0 (ALFA)
    GTGTG=0.000009/1 (GnomAD)
    HGVS:
    2.

    rs1490994394 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:6498194 (GRCh38)
      19:6498205 (GRCh37)
      Canonical SPDI:
      NC_000019.10:6498193:G:A
      Gene:
      TUBB4A (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000224/1 (ALFA)
      A=0.000008/1 (GnomAD)
      A=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1490985421 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        19:6493821 (GRCh38)
        19:6493832 (GRCh37)
        Canonical SPDI:
        NC_000019.10:6493820:A:G
        Gene:
        TUBB4A (Varview)
        Functional Consequence:
        downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000015/2 (GnomAD)
        HGVS:
        4.

        rs1490868199 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          19:6500458 (GRCh38)
          19:6500469 (GRCh37)
          Canonical SPDI:
          NC_000019.10:6500457:G:A
          Gene:
          TUBB4A (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490721814 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:6498725 (GRCh38)
            19:6498736 (GRCh37)
            Canonical SPDI:
            NC_000019.10:6498724:G:A
            Gene:
            TUBB4A (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490711911 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              19:6499602 (GRCh38)
              19:6499613 (GRCh37)
              Canonical SPDI:
              NC_000019.10:6499601:C:G
              Gene:
              TUBB4A (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000045/12 (TOPMED)
              G=0.000057/8 (GnomAD)
              HGVS:
              7.

              rs1490625799 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:6497930 (GRCh38)
                19:6497941 (GRCh37)
                Canonical SPDI:
                NC_000019.10:6497929:G:A
                Gene:
                TUBB4A (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490169586 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  19:6494150 (GRCh38)
                  19:6494161 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:6494149:A:C,NC_000019.10:6494149:A:G
                  Gene:
                  TUBB4A (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490101492 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:6503499 (GRCh38)
                    19:6503510 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:6503498:A:G
                    Gene:
                    TUBB4A (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000019/5 (TOPMED)
                    G=0.000029/4 (GnomAD)
                    HGVS:
                    10.

                    rs1489895584 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      19:6499979 (GRCh38)
                      19:6499990 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:6499978:T:C
                      Gene:
                      TUBB4A (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1489383096 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        19:6496461 (GRCh38)
                        19:6496472 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:6496460:C:G
                        Gene:
                        TUBB4A (Varview)
                        Functional Consequence:
                        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:
                        12.

                        rs1489257876 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          19:6496556 (GRCh38)
                          19:6496567 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:6496555:A:G
                          Gene:
                          TUBB4A (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          A=0.5/1 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs1489241576 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            19:6504067 (GRCh38)
                            19:6504078 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:6504066:C:G
                            Gene:
                            TUBB4A (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            G=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1489108246 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:6504807 (GRCh38)
                              19:6504818 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:6504806:G:A
                              Gene:
                              TUBB4A (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1488930624 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                19:6497050 (GRCh38)
                                19:6497061 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:6497049:T:A
                                Gene:
                                TUBB4A (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.00041/25 (GnomAD)
                                A=0.00196/2 (KOREAN)
                                T=0.5/1 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs1488860690 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  TG>- [Show Flanks]
                                  Chromosome:
                                  19:6496879 (GRCh38)
                                  19:6496890 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:6496878:TG:
                                  Gene:
                                  TUBB4A (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.000214/3 (ALFA)
                                  -=0.000022/3 (GnomAD)
                                  -=0.000023/6 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488672727 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:6496378 (GRCh38)
                                    19:6496389 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:6496377:C:T
                                    Gene:
                                    TUBB4A (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    HGVS:
                                    18.

                                    rs1488084911 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      19:6497691 (GRCh38)
                                      19:6497702 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:6497690:A:T
                                      Gene:
                                      TUBB4A (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.00028/5 (TOMMO)
                                      T=0.00078/5 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1487766628 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        19:6500926 (GRCh38)
                                        19:6500937 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:6500925:A:G
                                        Gene:
                                        TUBB4A (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487293077 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          19:6497793 (GRCh38)
                                          19:6497804 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:6497792:C:A,NC_000019.10:6497792:C:T
                                          Gene:
                                          TUBB4A (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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