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Items: 1 to 20 of 735

1.

rs1490510126 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:132029550 (GRCh38)
    12:132514095 (GRCh37)
    Canonical SPDI:
    NC_000012.12:132029549:G:A
    Gene:
    EP400 (Varview), SNORA49 (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000132/2 (ALFA)
    A=0.000008/2 (TOPMED)
    A=0.000446/2 (Estonian)
    HGVS:
    2.

    rs1489370434 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:132031259 (GRCh38)
      12:132515804 (GRCh37)
      Canonical SPDI:
      NC_000012.12:132031258:T:C
      Gene:
      EP400 (Varview), SNORA49 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs1489257869 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:132031598 (GRCh38)
        12:132516143 (GRCh37)
        Canonical SPDI:
        NC_000012.12:132031597:G:A
        Gene:
        EP400 (Varview), SNORA49 (Varview)
        Functional Consequence:
        downstream_transcript_variant,intron_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1489123283 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          12:132030183 (GRCh38)
          12:132514728 (GRCh37)
          Canonical SPDI:
          NC_000012.12:132030182:T:A
          Gene:
          EP400 (Varview), SNORA49 (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 (GnomAD_exomes)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1488446884 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            12:132029813 (GRCh38)
            12:132514358 (GRCh37)
            Canonical SPDI:
            NC_000012.12:132029812:C:T
            Gene:
            EP400 (Varview), SNORA49 (Varview)
            Functional Consequence:
            coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000016/4 (GnomAD_exomes)
            HGVS:
            6.

            rs1488042222 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:132029852 (GRCh38)
              12:132514397 (GRCh37)
              Canonical SPDI:
              NC_000012.12:132029851:G:A
              Gene:
              EP400 (Varview), SNORA49 (Varview)
              Functional Consequence:
              coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1487984142 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                12:132031783 (GRCh38)
                12:132516328 (GRCh37)
                Canonical SPDI:
                NC_000012.12:132031782:C:T
                Gene:
                EP400 (Varview), SNORA49 (Varview)
                Functional Consequence:
                downstream_transcript_variant,intron_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:
                8.

                rs1484337236 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,G [Show Flanks]
                  Chromosome:
                  12:132031784 (GRCh38)
                  12:132516329 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:132031783:T:A,NC_000012.12:132031783:T:G
                  Gene:
                  EP400 (Varview), SNORA49 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,intron_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1484204219 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:132030960 (GRCh38)
                    12:132515505 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:132030959:C:T
                    Gene:
                    EP400 (Varview), SNORA49 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1483880540 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      12:132031001 (GRCh38)
                      12:132515546 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:132031000:C:G,NC_000012.12:132031000:C:T
                      Gene:
                      EP400 (Varview), SNORA49 (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1482568787 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        12:132030448 (GRCh38)
                        12:132514993 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:132030447:A:G
                        Gene:
                        EP400 (Varview), SNORA49 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_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:
                        12.

                        rs1480867855 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          12:132030353 (GRCh38)
                          12:132514898 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:132030352:G:
                          Gene:
                          EP400 (Varview), SNORA49 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1480483330 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            12:132029303 (GRCh38)
                            12:132513848 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:132029302:T:C
                            Gene:
                            EP400 (Varview), SNORA49 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1479365826 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              12:132029745 (GRCh38)
                              12:132514290 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:132029744:T:A
                              Gene:
                              EP400 (Varview), SNORA49 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_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:
                              15.

                              rs1479063652 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:132030092 (GRCh38)
                                12:132514637 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:132030091:G:A
                                Gene:
                                EP400 (Varview), SNORA49 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000084/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000015/4 (TOPMED)
                                A=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1478030046 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  12:132029760 (GRCh38)
                                  12:132514305 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:132029759:C:T
                                  Gene:
                                  EP400 (Varview), SNORA49 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1477532767 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    12:132030258 (GRCh38)
                                    12:132514803 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:132030257:G:T
                                    Gene:
                                    EP400 (Varview), SNORA49 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000447/2 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.00067/3 (Estonian)
                                    HGVS:
                                    18.

                                    rs1477512550 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      12:132030944 (GRCh38)
                                      12:132515489 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:132030943:T:C
                                      Gene:
                                      EP400 (Varview), SNORA49 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1477079832 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:132031404 (GRCh38)
                                        12:132515949 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:132031403:C:T
                                        Gene:
                                        EP400 (Varview), SNORA49 (Varview)
                                        Functional Consequence:
                                        intron_variant,downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1471789682 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          12:132031641 (GRCh38)
                                          12:132516186 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:132031640:C:T
                                          Gene:
                                          EP400 (Varview), SNORA49 (Varview)
                                          Functional Consequence:
                                          intron_variant,downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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