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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490979871 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    6:3156343 (GRCh38)
    6:3156577 (GRCh37)
    Canonical SPDI:
    NC_000006.12:3156342:A:G
    Gene:
    TUBB2A (Varview), LOC105374889 (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=0.00046/8 (TOMMO)
    HGVS:
    2.

    rs1488199755 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C,G [Show Flanks]
      Chromosome:
      6:3158325 (GRCh38)
      6:3158559 (GRCh37)
      Canonical SPDI:
      NC_000006.12:3158324:T:A,NC_000006.12:3158324:T:C,NC_000006.12:3158324:T:G
      Gene:
      TUBB2A (Varview), LOC105374889 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      T=0.5/14 (SGDP_PRJ)
      HGVS:
      3.

      rs1488116095 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        6:3156873 (GRCh38)
        6:3157107 (GRCh37)
        Canonical SPDI:
        NC_000006.12:3156872:T:C
        Gene:
        TUBB2A (Varview), LOC105374889 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1486791263 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          T>- [Show Flanks]
          Chromosome:
          6:3158046 (GRCh38)
          6:3158280 (GRCh37)
          Canonical SPDI:
          NC_000006.12:3158045:TTT:TT
          Gene:
          TUBB2A (Varview), LOC105374889 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          TT=0./0 (ALFA)
          -=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1486576804 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:3155005 (GRCh38)
            6:3155239 (GRCh37)
            Canonical SPDI:
            NC_000006.12:3155004:G:A
            Gene:
            TUBB2A (Varview)
            Functional Consequence:
            5_prime_UTR_variant,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.

            rs1485693008 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:3154547 (GRCh38)
              6:3154781 (GRCh37)
              Canonical SPDI:
              NC_000006.12:3154546:G:A
              Gene:
              TUBB2A (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1484834826 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                6:3157544 (GRCh38)
                6:3157778 (GRCh37)
                Canonical SPDI:
                NC_000006.12:3157543:T:C,NC_000006.12:3157543:T:G
                Gene:
                TUBB2A (Varview), LOC105374889 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1484689874 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  6:3153684 (GRCh38)
                  6:3153918 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:3153683:T:C,NC_000006.12:3153683:T:G
                  Gene:
                  BPHL (Varview), TUBB2A (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1484314342 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:3156466 (GRCh38)
                    6:3156700 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:3156465:G:A
                    Gene:
                    TUBB2A (Varview), LOC105374889 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1484243653 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:3157278 (GRCh38)
                      6:3157512 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:3157277:C:T
                      Gene:
                      TUBB2A (Varview), LOC105374889 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1484037589 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        6:3156962 (GRCh38)
                        6:3157196 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:3156961:C:A,NC_000006.12:3156961:C:T
                        Gene:
                        TUBB2A (Varview), LOC105374889 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1483796345 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          6:3159314 (GRCh38)
                          6:3159548 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:3159313:G:A
                          Gene:
                          TUBB2A (Varview), LOC105374889 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000224/1 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000223/1 (Estonian)
                          HGVS:
                          13.

                          rs1483744125 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:3157549 (GRCh38)
                            6:3157783 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:3157548:C:T
                            Gene:
                            TUBB2A (Varview), LOC105374889 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000053/14 (TOPMED)
                            T=0.000057/8 (GnomAD)
                            HGVS:
                            14.

                            rs1483339238 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              6:3158650 (GRCh38)
                              6:3158884 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:3158649:T:C
                              Gene:
                              TUBB2A (Varview), LOC105374889 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1483154600 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:3157626 (GRCh38)
                                6:3157860 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:3157625:C:T
                                Gene:
                                TUBB2A (Varview), LOC105374889 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1483073734 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:3156714 (GRCh38)
                                  6:3156948 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:3156713:G:A
                                  Gene:
                                  TUBB2A (Varview), LOC105374889 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1483057471 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:3154100 (GRCh38)
                                    6:3154334 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:3154099:G:A
                                    Gene:
                                    TUBB2A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1482927674 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      6:3156160 (GRCh38)
                                      6:3156394 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:3156159:G:A,NC_000006.12:3156159:G:C
                                      Gene:
                                      TUBB2A (Varview), LOC105374889 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.001119/5 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482678325 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:3157190 (GRCh38)
                                        6:3157424 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:3157189:C:T
                                        Gene:
                                        TUBB2A (Varview), LOC105374889 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000142/2 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482631809 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:3155359 (GRCh38)
                                          6:3155593 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:3155358:A:G
                                          Gene:
                                          TUBB2A (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000014/2 (GnomAD)
                                          G=0.000015/4 (TOPMED)
                                          G=0.000283/5 (TOMMO)
                                          G=0.000342/1 (KOREAN)
                                          HGVS:

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