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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491421130 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    13:19182666 (GRCh38)
    13:19756806 (GRCh37)
    Canonical SPDI:
    NC_000013.11:19182664:AGA:A
    Gene:
    TUBA3C (Varview), LOC101928697 (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    -=0.00062/17 (TOMMO)
    HGVS:
    2.

    rs1491199277 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      13:19187742 (GRCh38)
      13:19761882 (GRCh37)
      Canonical SPDI:
      NC_000013.11:19187741:CA:
      Gene:
      LOC101928697 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.01652/196 (ALFA)
      -=0.00159/45 (TOMMO)
      HGVS:
      3.

      rs1491106224 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        13:19182661 (GRCh38)
        13:19756801 (GRCh37)
        Canonical SPDI:
        NC_000013.11:19182659:AGA:A
        Gene:
        TUBA3C (Varview), LOC101928697 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.082785/982 (ALFA)
        -=0.023762/397 (TOMMO)
        -=0.03548/65 (Korea1K)
        -=0.044983/26 (NorthernSweden)
        -=0.05/2 (GENOME_DK)
        -=0.072392/279 (ALSPAC)
        -=0.076321/283 (TWINSUK)
        -=0.089656/10819 (GnomAD)
        HGVS:
        4.

        rs1490984361 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          13:19182778 (GRCh38)
          13:19756918 (GRCh37)
          Canonical SPDI:
          NC_000013.11:19182777:C:T
          Gene:
          TUBA3C (Varview), LOC101928697 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490896806 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            13:19182230 (GRCh38)
            13:19756370 (GRCh37)
            Canonical SPDI:
            NC_000013.11:19182229:G:C,NC_000013.11:19182229:G:T
            Gene:
            TUBA3C (Varview), LOC101928697 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000019/5 (TOPMED)
            T=0.000071/1 (TOMMO)
            HGVS:
            6.

            rs1490847852 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->A [Show Flanks]
              Chromosome:
              13:19187797 (GRCh38)
              13:19761938 (GRCh37)
              Canonical SPDI:
              NC_000013.11:19187797:AAAA:AAAAA
              Gene:
              LOC101928697 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAA=0.000066/1 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000011/3 (TOPMED)
              A=0.000223/1 (Estonian)
              HGVS:
              7.

              rs1490846131 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->AT [Show Flanks]
                Chromosome:
                13:19182864 (GRCh38)
                13:19757005 (GRCh37)
                Canonical SPDI:
                NC_000013.11:19182864:AT:ATAT
                Gene:
                TUBA3C (Varview), LOC101928697 (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                ATAT=0./0 (ALFA)
                AT=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1490641117 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  13:19187545 (GRCh38)
                  13:19761685 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:19187544:T:G
                  Gene:
                  LOC101928697 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000011/3 (TOPMED)
                  G=0.000779/13 (TOMMO)
                  HGVS:
                  9.

                  rs1489939880 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    13:19181266 (GRCh38)
                    13:19755406 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:19181265:G:C
                    Gene:
                    TUBA3C (Varview), LOC101928697 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489778435 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      13:19184706 (GRCh38)
                      13:19758846 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:19184705:C:A
                      Gene:
                      LOC101928697 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489242089 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        13:19187354 (GRCh38)
                        13:19761494 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:19187353:C:G
                        Gene:
                        LOC101928697 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489235885 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          13:19183993 (GRCh38)
                          13:19758133 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:19183992:C:A,NC_000013.11:19183992:C:T
                          Gene:
                          LOC101928697 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489153618 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            13:19180410 (GRCh38)
                            13:19754550 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:19180409:G:A
                            Gene:
                            TUBA3C (Varview), LOC101928697 (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000094/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488828794 has merged into rs61031911 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                              Chromosome:
                              13:19186716 (GRCh38)
                              13:19760856 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                              Gene:
                              LOC101928697 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
                              -=0.5/20 (GENOME_DK)
                              HGVS:
                              NC_000013.11:g.19186698GT[9], NC_000013.11:g.19186698GT[11], NC_000013.11:g.19186698GT[12], NC_000013.11:g.19186698GT[13], NC_000013.11:g.19186698GT[14], NC_000013.11:g.19186698GT[15], NC_000013.11:g.19186698GT[16], NC_000013.11:g.19186698GT[17], NC_000013.11:g.19186698GT[19], NC_000013.11:g.19186698GT[20], NC_000013.11:g.19186698GT[21], NC_000013.11:g.19186698GT[22], NC_000013.11:g.19186698GT[23], NC_000013.11:g.19186698GT[24], NC_000013.11:g.19186698GT[25], NC_000013.11:g.19186698GT[26], NC_000013.11:g.19186698GT[27], NC_000013.11:g.19186698GT[28], NC_000013.11:g.19186698GT[29], NC_000013.11:g.19186698GT[30], NC_000013.11:g.19186698GT[31], NC_000013.11:g.19186698GT[32], NC_000013.11:g.19186698GT[33], NC_000013.10:g.19760838GT[9], NC_000013.10:g.19760838GT[11], NC_000013.10:g.19760838GT[12], NC_000013.10:g.19760838GT[13], NC_000013.10:g.19760838GT[14], NC_000013.10:g.19760838GT[15], NC_000013.10:g.19760838GT[16], NC_000013.10:g.19760838GT[17], NC_000013.10:g.19760838GT[19], NC_000013.10:g.19760838GT[20], NC_000013.10:g.19760838GT[21], NC_000013.10:g.19760838GT[22], NC_000013.10:g.19760838GT[23], NC_000013.10:g.19760838GT[24], NC_000013.10:g.19760838GT[25], NC_000013.10:g.19760838GT[26], NC_000013.10:g.19760838GT[27], NC_000013.10:g.19760838GT[28], NC_000013.10:g.19760838GT[29], NC_000013.10:g.19760838GT[30], NC_000013.10:g.19760838GT[31], NC_000013.10:g.19760838GT[32], NC_000013.10:g.19760838GT[33]
                              15.

                              rs1487522444 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                13:19182311 (GRCh38)
                                13:19756451 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:19182310:A:G
                                Gene:
                                TUBA3C (Varview), LOC101928697 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1487278114 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  13:19183087 (GRCh38)
                                  13:19757227 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:19183086:A:C
                                  Gene:
                                  TUBA3C (Varview), LOC101928697 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487085155 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    13:19182525 (GRCh38)
                                    13:19756665 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:19182524:G:A
                                    Gene:
                                    TUBA3C (Varview), LOC101928697 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000035/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1486804186 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      13:19185012 (GRCh38)
                                      13:19759152 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:19185011:G:A
                                      Gene:
                                      LOC101928697 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486751998 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        13:19186048 (GRCh38)
                                        13:19760188 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:19186047:T:A
                                        Gene:
                                        LOC101928697 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486678299 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          13:19182442 (GRCh38)
                                          13:19756582 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:19182441:A:G
                                          Gene:
                                          TUBA3C (Varview), LOC101928697 (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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