U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 781

1.

rs1490624745 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:93733510 (GRCh38)
    11:93466676 (GRCh37)
    Canonical SPDI:
    NC_000011.10:93733509:G:A
    Gene:
    TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), SNORD6 (Varview), MIR1304 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1485879730 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      11:93733187 (GRCh38)
      11:93466353 (GRCh37)
      Canonical SPDI:
      NC_000011.10:93733186:G:A,NC_000011.10:93733186:G:T
      Gene:
      TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), SNORD6 (Varview), MIR1304 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1485128459 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        11:93734625 (GRCh38)
        11:93467791 (GRCh37)
        Canonical SPDI:
        NC_000011.10:93734624:C:A
        Gene:
        TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), SNORD5 (Varview), MIR1304 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1482801641 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          11:93734283 (GRCh38)
          11:93467449 (GRCh37)
          Canonical SPDI:
          NC_000011.10:93734282:T:C,NC_000011.10:93734282:T:G
          Gene:
          TAF1D (Varview), SNORA8 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1482418559 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:93735207 (GRCh38)
            11:93468373 (GRCh37)
            Canonical SPDI:
            NC_000011.10:93735206:C:T
            Gene:
            TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), SNORD5 (Varview), MIR1304 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
            HGVS:
            6.

            rs1481795855 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              11:93733875 (GRCh38)
              11:93467041 (GRCh37)
              Canonical SPDI:
              NC_000011.10:93733874:G:C
              Gene:
              TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1481704545 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:93733961 (GRCh38)
                11:93467127 (GRCh37)
                Canonical SPDI:
                NC_000011.10:93733960:C:T
                Gene:
                TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1481625062 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  11:93733159 (GRCh38)
                  11:93466325 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:93733158:A:C,NC_000011.10:93733158:A:G
                  Gene:
                  TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), SNORD6 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1481169614 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:93732988 (GRCh38)
                    11:93466154 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:93732987:C:T
                    Gene:
                    TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORA32 (Varview), SNORD5 (Varview), SNORD6 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1477511177 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->TCGAACTCCTGAGGTCAGGAGTTC [Show Flanks]
                      Chromosome:
                      11:93735491 (GRCh38)
                      11:93468658 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:93735491::TCGAACTCCTGAGGTCAGGAGTTC
                      Gene:
                      TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), MIR1304 (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      TCGAACTCCTGAGGTCAGGAGTTC=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1476436865 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        11:93733675 (GRCh38)
                        11:93466841 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:93733674:G:C
                        Gene:
                        TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000011/3 (TOPMED)
                        C=0.000021/4 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1475520196 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          11:93735088 (GRCh38)
                          11:93468254 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:93735087:C:A
                          Gene:
                          TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), SNORD5 (Varview), MIR1304 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1474610689 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            11:93735494 (GRCh38)
                            11:93468660 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:93735493:A:G
                            Gene:
                            TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), MIR1304 (Varview)
                            Functional Consequence:
                            intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.00003/8 (TOPMED)
                            G=0.000036/5 (GnomAD)
                            HGVS:
                            14.

                            rs1474078733 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:93734257 (GRCh38)
                              11:93467423 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:93734256:A:G
                              Gene:
                              TAF1D (Varview), SNORA8 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1473095787 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:93733864 (GRCh38)
                                11:93467030 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:93733863:A:G
                                Gene:
                                TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1471487823 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  11:93735069 (GRCh38)
                                  11:93468235 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:93735068:T:C,NC_000011.10:93735068:T:G
                                  Gene:
                                  TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), SNORD5 (Varview), MIR1304 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000043/1 (ALFA)
                                  G=0.000005/1 (GnomAD_exomes)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1471466745 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    11:93733537 (GRCh38)
                                    11:93466703 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:93733536:T:C
                                    Gene:
                                    TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), SNORD6 (Varview), MIR1304 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1470955710 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:93734706 (GRCh38)
                                      11:93467872 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:93734705:A:G
                                      Gene:
                                      TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), SNORD5 (Varview), MIR1304 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1468905224 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        11:93734696 (GRCh38)
                                        11:93467862 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:93734695:A:G
                                        Gene:
                                        TAF1D (Varview), SNORA18 (Varview), SNORA40 (Varview), SNORD5 (Varview), MIR1304 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000023/6 (TOPMED)
                                        G=0.000031/4 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1467855166 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          11:93734059 (GRCh38)
                                          11:93467225 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:93734058:T:A
                                          Gene:
                                          TAF1D (Varview), SNORA8 (Varview), SNORA1 (Varview), SNORA18 (Varview), SNORD5 (Varview), MIR1304 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...