Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 9334

1.

rs1491572693 has merged into rs56708503 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    8:123523605 (GRCh38)
    8:124535845 (GRCh37)
    Canonical SPDI:
    NC_000008.11:123523603:ACA:A
    Gene:
    FBXO32 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.09383/1113 (ALFA)
    -=0.00841/109 (TOMMO)
    -=0.12783/474 (TWINSUK)
    -=0.14634/564 (ALSPAC)
    -=0.15021/14038 (GnomAD)
    -=0.16236/88 (NorthernSweden)
    HGVS:
    2.

    rs1491569939 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CACCAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      8:123534123 (GRCh38)
      8:124546364 (GRCh37)
      Canonical SPDI:
      NC_000008.11:123534123:AAAAAAAAAAAA:AAAAAAAAAAAACACCAAAAAAAAAAAA
      Gene:
      FBXO32 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAACACCAAAAAAAAAAAA=0.00093/11 (ALFA)
      AAAAAAAAAAAACACC=0.00667/341 (GnomAD)
      HGVS:
      3.

      rs1491524498 has merged into rs34656669 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        8:123504099 (GRCh38)
        8:124516339 (GRCh37)
        Canonical SPDI:
        NC_000008.11:123504083:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:123504083:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:123504083:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:123504083:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:123504083:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:123504083:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:123504083:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:123504083:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:123504083:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:123504083:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        FBXO32 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAAAAA=0./0 (ALFA)
        -=0.3722/1864 (1000Genomes)
        HGVS:
        4.

        rs1491198843 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          8:123504083 (GRCh38)
          8:124516323 (GRCh37)
          Canonical SPDI:
          NC_000008.11:123504082:CA:
          Gene:
          FBXO32 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00067/8 (ALFA)
          HGVS:
          5.

          rs1491196446 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            GT>- [Show Flanks]
            Chromosome:
            8:123535827 (GRCh38)
            8:124548067 (GRCh37)
            Canonical SPDI:
            NC_000008.11:123535826:GT:
            Gene:
            FBXO32 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.000071/1 (ALFA)
            -=0.000033/4 (GnomAD)
            -=0.000042/11 (TOPMED)
            HGVS:
            6.

            rs1491020525 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->A [Show Flanks]
              Chromosome:
              8:123523605 (GRCh38)
              8:124535846 (GRCh37)
              Canonical SPDI:
              NC_000008.11:123523605:AA:AAA
              Gene:
              FBXO32 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency
              MAF:
              A=0.00001/1 (GnomAD)
              HGVS:
              7.

              rs1491010852 has merged into rs201608998 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AA>-,A,AAA,AAAA [Show Flanks]
                Chromosome:
                8:123499482 (GRCh38)
                8:124511722 (GRCh37)
                Canonical SPDI:
                NC_000008.11:123499469:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:123499469:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:123499469:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:123499469:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
                Gene:
                FBXO32 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAA=0./0 (ALFA)
                A=0.0331/19 (NorthernSweden)
                A=0.175/7 (GENOME_DK)
                HGVS:
                NC_000008.11:g.123499482_123499483del, NC_000008.11:g.123499483del, NC_000008.11:g.123499483dup, NC_000008.11:g.123499482_123499483dup, NC_000008.10:g.124511722_124511723del, NC_000008.10:g.124511723del, NC_000008.10:g.124511723dup, NC_000008.10:g.124511722_124511723dup, NM_058229.4:c.*3902_*3903del, NM_058229.4:c.*3903del, NM_058229.4:c.*3903dup, NM_058229.4:c.*3902_*3903dup, NM_058229.3:c.*3902_*3903del, NM_058229.3:c.*3903del, NM_058229.3:c.*3903dup, NM_058229.3:c.*3902_*3903dup, NM_148177.3:c.*3902_*3903del, NM_148177.3:c.*3903del, NM_148177.3:c.*3903dup, NM_148177.3:c.*3902_*3903dup, NM_148177.2:c.*3902_*3903del, NM_148177.2:c.*3903del, NM_148177.2:c.*3903dup, NM_148177.2:c.*3902_*3903dup, NM_001242463.2:c.*3902_*3903del, NM_001242463.2:c.*3903del, NM_001242463.2:c.*3903dup, NM_001242463.2:c.*3902_*3903dup, NM_001242463.1:c.*3902_*3903del, NM_001242463.1:c.*3903del, NM_001242463.1:c.*3903dup, NM_001242463.1:c.*3902_*3903dup
                8.

                rs1491010646 has merged into rs34410652 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  8:123517488 (GRCh38)
                  8:124529728 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:123517477:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  FBXO32 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
                  -=0.3347/1676 (1000Genomes)
                  HGVS:
                  NC_000008.11:g.123517488_123517492del, NC_000008.11:g.123517489_123517492del, NC_000008.11:g.123517490_123517492del, NC_000008.11:g.123517491_123517492del, NC_000008.11:g.123517492del, NC_000008.11:g.123517492dup, NC_000008.11:g.123517491_123517492dup, NC_000008.11:g.123517490_123517492dup, NC_000008.11:g.123517488_123517492dup, NC_000008.11:g.123517487_123517492dup, NC_000008.11:g.123517486_123517492dup, NC_000008.11:g.123517484_123517492dup, NC_000008.11:g.123517478_123517492dup, NC_000008.10:g.124529728_124529732del, NC_000008.10:g.124529729_124529732del, NC_000008.10:g.124529730_124529732del, NC_000008.10:g.124529731_124529732del, NC_000008.10:g.124529732del, NC_000008.10:g.124529732dup, NC_000008.10:g.124529731_124529732dup, NC_000008.10:g.124529730_124529732dup, NC_000008.10:g.124529728_124529732dup, NC_000008.10:g.124529727_124529732dup, NC_000008.10:g.124529726_124529732dup, NC_000008.10:g.124529724_124529732dup, NC_000008.10:g.124529718_124529732dup
                  9.

                  rs1490936267 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    8:123531012 (GRCh38)
                    8:124543252 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:123531011:T:G
                    Gene:
                    FBXO32 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.00008/1 (ALFA)
                    HGVS:
                    10.

                    rs1490918169 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      8:123527875 (GRCh38)
                      8:124540115 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:123527874:G:A
                      Gene:
                      FBXO32 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000142/2 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1490812419 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:123511405 (GRCh38)
                        8:124523645 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:123511404:C:T
                        Gene:
                        FBXO32 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490697731 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          8:123508704 (GRCh38)
                          8:124520944 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:123508703:T:C
                          Gene:
                          FBXO32 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000023/6 (TOPMED)
                          C=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1490638263 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            8:123540157 (GRCh38)
                            8:124552397 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:123540156:T:G
                            Gene:
                            FBXO32 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.00006/1 (TOMMO)
                            HGVS:
                            14.

                            rs1490635135 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              8:123504675 (GRCh38)
                              8:124516915 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:123504674:A:G
                              Gene:
                              FBXO32 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1490431187 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                8:123528855 (GRCh38)
                                8:124541095 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:123528854:C:A
                                Gene:
                                FBXO32 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490430755 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  8:123521596 (GRCh38)
                                  8:124533836 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:123521595:A:C
                                  Gene:
                                  FBXO32 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490360331 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    8:123522586 (GRCh38)
                                    8:124534826 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:123522585:T:C
                                    Gene:
                                    FBXO32 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490133941 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      8:123502625 (GRCh38)
                                      8:124514865 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:123502624:G:T
                                      Gene:
                                      FBXO32 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490119457 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        8:123519511 (GRCh38)
                                        8:124531751 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:123519510:A:G
                                        Gene:
                                        FBXO32 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000084/1 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490030160 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          8:123538058 (GRCh38)
                                          8:124550298 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:123538057:A:G
                                          Gene:
                                          FBXO32 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (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...
                                          Support Center