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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490554144 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CATTAT>- [Show Flanks]
    Chromosome:
    9:32631592 (GRCh38)
    9:32631590 (GRCh37)
    Canonical SPDI:
    NC_000009.12:32631584:TCATTATCATTAT:TCATTAT
    Gene:
    TAF1L (Varview)
    Functional Consequence:
    coding_sequence_variant,inframe_deletion
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TCATTAT=0./0 (ALFA)
    -=0.000004/1 (GnomAD_exomes)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490134287 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      9:32629783 (GRCh38)
      9:32629781 (GRCh37)
      Canonical SPDI:
      NC_000009.12:32629782:G:A
      Gene:
      TAF1L (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      A=0.000021/3 (GnomAD)
      A=0.000035/1 (TOMMO)
      HGVS:
      3.

      rs1490105698 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        9:32631076 (GRCh38)
        9:32631074 (GRCh37)
        Canonical SPDI:
        NC_000009.12:32631075:C:G
        Gene:
        TAF1L (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1489590949 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          9:32631904 (GRCh38)
          9:32631902 (GRCh37)
          Canonical SPDI:
          NC_000009.12:32631903:G:T
          Gene:
          TAF1L (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489437859 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            9:32630493 (GRCh38)
            9:32630491 (GRCh37)
            Canonical SPDI:
            NC_000009.12:32630492:G:C,NC_000009.12:32630492:G:T
            Gene:
            TAF1L (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1489400374 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              9:32630062 (GRCh38)
              9:32630060 (GRCh37)
              Canonical SPDI:
              NC_000009.12:32630061:C:T
              Gene:
              TAF1L (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1489081581 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                9:32634095 (GRCh38)
                9:32634093 (GRCh37)
                Canonical SPDI:
                NC_000009.12:32634094:C:A,NC_000009.12:32634094:C:T
                Gene:
                TAF1L (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489015614 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  9:32637296 (GRCh38)
                  9:32637294 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:32637295:T:A
                  Gene:
                  TAF1L (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1488595559 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:32635348 (GRCh38)
                    9:32635346 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:32635347:T:C
                    Gene:
                    TAF1L (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1488401386 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      9:32637228 (GRCh38)
                      9:32637226 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:32637227:T:C
                      Gene:
                      TAF1L (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1487854817 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:32636922 (GRCh38)
                        9:32636920 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:32636921:T:C
                        Gene:
                        TAF1L (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487505762 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          9:32629584 (GRCh38)
                          9:32629582 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:32629583:A:G
                          Gene:
                          TAF1L (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487318104 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:32635156 (GRCh38)
                            9:32635154 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:32635155:C:T
                            Gene:
                            TAF1L (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.0003/1 (KOREAN)
                            T=0.0005/1 (Korea1K)
                            HGVS:
                            14.

                            rs1487120890 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              9:32633033 (GRCh38)
                              9:32633031 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:32633032:T:A,NC_000009.12:32633032:T:C
                              Gene:
                              TAF1L (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1487000702 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                9:32629567 (GRCh38)
                                9:32629565 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:32629566:G:T
                                Gene:
                                TAF1L (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1486623886 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  9:32630007 (GRCh38)
                                  9:32630005 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:32630006:C:G,NC_000009.12:32630006:C:T
                                  Gene:
                                  TAF1L (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.00034/1 (KOREAN)
                                  T=0.00055/1 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1486159902 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:32635732 (GRCh38)
                                    9:32635730 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:32635731:C:T
                                    Gene:
                                    TAF1L (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000016/2 (GnomAD)
                                    T=0.000106/2 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1486087300 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C [Show Flanks]
                                      Chromosome:
                                      9:32637663 (GRCh38)
                                      9:32637661 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:32637662:T:A,NC_000009.12:32637662:T:C
                                      Gene:
                                      TAF1L (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000066/1 (ALFA)
                                      C=0.000014/2 (GnomAD)
                                      C=0.000223/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1486062730 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:32635298 (GRCh38)
                                        9:32635296 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:32635297:T:C
                                        Gene:
                                        TAF1L (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1485709900 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          9:32628992 (GRCh38)
                                          9:32628990 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:32628991:C:A
                                          Gene:
                                          TAF1L (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000447/2 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000446/2 (Estonian)
                                          HGVS:

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