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Items: 1 to 20 of 4891

1.

rs1491522359 has merged into rs199502579 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
    Chromosome:
    9:113282639 (GRCh38)
    9:116044919 (GRCh37)
    Canonical SPDI:
    NC_000009.12:113282625:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:113282625:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:113282625:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:113282625:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:113282625:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:113282625:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
    Gene:
    PRPF4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.06014/223 (TWINSUK)
    -=0.06461/249 (ALSPAC)
    -=0.1/4 (GENOME_DK)
    HGVS:
    2.

    rs1491300836 has merged into rs538497931 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      9:113284077 (GRCh38)
      9:116046357 (GRCh37)
      Canonical SPDI:
      NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:113284067:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
      Gene:
      PRPF4 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAA=0./0 (ALFA)
      -=0.392/1963 (1000Genomes)
      HGVS:
      NC_000009.12:g.113284077_113284086del, NC_000009.12:g.113284079_113284086del, NC_000009.12:g.113284080_113284086del, NC_000009.12:g.113284081_113284086del, NC_000009.12:g.113284082_113284086del, NC_000009.12:g.113284083_113284086del, NC_000009.12:g.113284084_113284086del, NC_000009.12:g.113284085_113284086del, NC_000009.12:g.113284086del, NC_000009.12:g.113284086dup, NC_000009.12:g.113284085_113284086dup, NC_000009.12:g.113284084_113284086dup, NC_000009.11:g.116046357_116046366del, NC_000009.11:g.116046359_116046366del, NC_000009.11:g.116046360_116046366del, NC_000009.11:g.116046361_116046366del, NC_000009.11:g.116046362_116046366del, NC_000009.11:g.116046363_116046366del, NC_000009.11:g.116046364_116046366del, NC_000009.11:g.116046365_116046366del, NC_000009.11:g.116046366del, NC_000009.11:g.116046366dup, NC_000009.11:g.116046365_116046366dup, NC_000009.11:g.116046364_116046366dup, NG_034225.1:g.13444_13453del, NG_034225.1:g.13446_13453del, NG_034225.1:g.13447_13453del, NG_034225.1:g.13448_13453del, NG_034225.1:g.13449_13453del, NG_034225.1:g.13450_13453del, NG_034225.1:g.13451_13453del, NG_034225.1:g.13452_13453del, NG_034225.1:g.13453del, NG_034225.1:g.13453dup, NG_034225.1:g.13452_13453dup, NG_034225.1:g.13451_13453dup
      3.

      rs1491207841 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        9:113284067 (GRCh38)
        9:116046347 (GRCh37)
        Canonical SPDI:
        NC_000009.12:113284066:CA:
        Gene:
        PRPF4 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00008/1 (ALFA)
        HGVS:
        4.

        rs1490861825 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:113274068 (GRCh38)
          9:116036348 (GRCh37)
          Canonical SPDI:
          NC_000009.12:113274067:G:A
          Gene:
          PRPF4 (Varview), CDC26 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000036/5 (GnomAD)
          A=0.000038/10 (TOPMED)
          HGVS:
          5.

          rs1490805001 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G,T [Show Flanks]
            Chromosome:
            9:113280121 (GRCh38)
            9:116042401 (GRCh37)
            Canonical SPDI:
            NC_000009.12:113280120:A:C,NC_000009.12:113280120:A:G,NC_000009.12:113280120:A:T
            Gene:
            PRPF4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            C=0.003275/6 (Korea1K)
            HGVS:
            6.

            rs1490769726 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:113281032 (GRCh38)
              9:116043312 (GRCh37)
              Canonical SPDI:
              NC_000009.12:113281031:G:A
              Gene:
              PRPF4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490686315 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:113284544 (GRCh38)
                9:116046824 (GRCh37)
                Canonical SPDI:
                NC_000009.12:113284543:T:C
                Gene:
                PRPF4 (Varview)
                Functional Consequence:
                intron_variant
                HGVS:
                8.

                rs1490095365 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  9:113292780 (GRCh38)
                  9:116055060 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:113292779:A:G
                  Gene:
                  PRPF4 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000224/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000223/1 (Estonian)
                  HGVS:
                  9.

                  rs1490044798 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    9:113274616 (GRCh38)
                    9:116036896 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:113274615:A:G
                    Gene:
                    PRPF4 (Varview), CDC26 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1489870621 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      9:113275694 (GRCh38)
                      9:116037975 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:113275694:AAA:AAAA
                      Gene:
                      PRPF4 (Varview), CDC26 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAA=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      12.

                      rs1489787014 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        9:113281939 (GRCh38)
                        9:116044219 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:113281938:C:G
                        Gene:
                        PRPF4 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000021/3 (GnomAD)
                        HGVS:
                        13.

                        rs1489684943 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C,T [Show Flanks]
                          Chromosome:
                          9:113282888 (GRCh38)
                          9:116045168 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:113282887:G:A,NC_000009.12:113282887:G:C,NC_000009.12:113282887:G:T
                          Gene:
                          PRPF4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          14.

                          rs1489587209 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:113286382 (GRCh38)
                            9:116048662 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:113286381:A:G
                            Gene:
                            PRPF4 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            15.

                            rs1489525982 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              9:113282073 (GRCh38)
                              9:116044353 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:113282072:T:C
                              Gene:
                              PRPF4 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1489461730 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:113282421 (GRCh38)
                                9:116044701 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:113282420:A:G
                                Gene:
                                PRPF4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1489428297 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AG>- [Show Flanks]
                                  Chromosome:
                                  9:113279389 (GRCh38)
                                  9:116041669 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:113279386:AGAG:AG
                                  Gene:
                                  PRPF4 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AGAG=0./0 (ALFA)
                                  -=0.000129/18 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1489390836 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    9:113293201 (GRCh38)
                                    9:116055481 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:113293200:G:A
                                    Gene:
                                    PRPF4 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1488904592 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      9:113289804 (GRCh38)
                                      9:116052084 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:113289803:C:G
                                      Gene:
                                      PRPF4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1488721809 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        9:113289391 (GRCh38)
                                        9:116051671 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:113289390:T:G
                                        Gene:
                                        PRPF4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:

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