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Items: 1 to 20 of 9052

1.

rs1491510144 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>- [Show Flanks]
    Chromosome:
    9:94616934 (GRCh38)
    9:97379216 (GRCh37)
    Canonical SPDI:
    NC_000009.12:94616932:TTT:T
    Gene:
    FBP1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1491498178 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TT>- [Show Flanks]
      Chromosome:
      9:94625142 (GRCh38)
      9:97387424 (GRCh37)
      Canonical SPDI:
      NC_000009.12:94625141:TT:
      Gene:
      FBP1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00134/6 (ALFA)
      -=0.00134/6 (Estonian)
      -=0.00167/28 (TOMMO)
      HGVS:
      3.

      rs1491216587 has merged into rs57221045 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        9:94621220 (GRCh38)
        9:97383502 (GRCh37)
        Canonical SPDI:
        NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:94621213:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        FBP1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAA=0./0 (ALFA)
        -=0.2/8 (GENOME_DK)
        HGVS:
        NC_000009.12:g.94621220_94621237del, NC_000009.12:g.94621221_94621237del, NC_000009.12:g.94621222_94621237del, NC_000009.12:g.94621223_94621237del, NC_000009.12:g.94621225_94621237del, NC_000009.12:g.94621226_94621237del, NC_000009.12:g.94621227_94621237del, NC_000009.12:g.94621228_94621237del, NC_000009.12:g.94621229_94621237del, NC_000009.12:g.94621230_94621237del, NC_000009.12:g.94621231_94621237del, NC_000009.12:g.94621232_94621237del, NC_000009.12:g.94621233_94621237del, NC_000009.12:g.94621234_94621237del, NC_000009.12:g.94621235_94621237del, NC_000009.12:g.94621236_94621237del, NC_000009.12:g.94621237del, NC_000009.12:g.94621237dup, NC_000009.11:g.97383502_97383519del, NC_000009.11:g.97383503_97383519del, NC_000009.11:g.97383504_97383519del, NC_000009.11:g.97383505_97383519del, NC_000009.11:g.97383507_97383519del, NC_000009.11:g.97383508_97383519del, NC_000009.11:g.97383509_97383519del, NC_000009.11:g.97383510_97383519del, NC_000009.11:g.97383511_97383519del, NC_000009.11:g.97383512_97383519del, NC_000009.11:g.97383513_97383519del, NC_000009.11:g.97383514_97383519del, NC_000009.11:g.97383515_97383519del, NC_000009.11:g.97383516_97383519del, NC_000009.11:g.97383517_97383519del, NC_000009.11:g.97383518_97383519del, NC_000009.11:g.97383519del, NC_000009.11:g.97383519dup, NG_008174.1:g.24019_24036del, NG_008174.1:g.24020_24036del, NG_008174.1:g.24021_24036del, NG_008174.1:g.24022_24036del, NG_008174.1:g.24024_24036del, NG_008174.1:g.24025_24036del, NG_008174.1:g.24026_24036del, NG_008174.1:g.24027_24036del, NG_008174.1:g.24028_24036del, NG_008174.1:g.24029_24036del, NG_008174.1:g.24030_24036del, NG_008174.1:g.24031_24036del, NG_008174.1:g.24032_24036del, NG_008174.1:g.24033_24036del, NG_008174.1:g.24034_24036del, NG_008174.1:g.24035_24036del, NG_008174.1:g.24036del, NG_008174.1:g.24036dup
        4.

        rs1491141348 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          9:94621213 (GRCh38)
          9:97383495 (GRCh37)
          Canonical SPDI:
          NC_000009.12:94621212:CA:
          Gene:
          FBP1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.01619/192 (ALFA)
          -=0.00119/25 (GnomAD)
          HGVS:
          5.

          rs1491104443 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->AA [Show Flanks]
            Chromosome:
            9:94625142 (GRCh38)
            9:97387425 (GRCh37)
            Canonical SPDI:
            NC_000009.12:94625142::AA
            Gene:
            FBP1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AA=0.0079/35 (ALFA)
            AA=0.00789/35 (Estonian)
            AA=0.01101/178 (TOMMO)
            HGVS:
            6.

            rs1491074765 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->G [Show Flanks]
              Chromosome:
              9:94624321 (GRCh38)
              9:97386604 (GRCh37)
              Canonical SPDI:
              NC_000009.12:94624321::G
              Gene:
              FBP1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.002919/13 (ALFA)
              G=0.000102/13 (GnomAD)
              G=0.000546/1 (Korea1K)
              HGVS:
              7.

              rs1491019184 has merged into rs3841715 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                G>-,GG [Show Flanks]
                Chromosome:
                9:94638635 (GRCh38)
                9:97400917 (GRCh37)
                Canonical SPDI:
                NC_000009.12:94638634:GGGGGGG:GGGGGG,NC_000009.12:94638634:GGGGGGG:GGGGGGGG
                Gene:
                FBP1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GGGGGG=0.14361/2344 (ALFA)
                -=0.32303/5394 (TOMMO)
                -=0.41134/2060 (1000Genomes)
                -=0.49667/298 (NorthernSweden)
                HGVS:
                8.

                rs1490944224 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  9:94625883 (GRCh38)
                  9:97388165 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:94625882:T:C
                  Gene:
                  FBP1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490786807 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:94641714 (GRCh38)
                    9:97403996 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:94641713:C:T
                    Gene:
                    FBP1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1490592157 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:94625518 (GRCh38)
                      9:97387800 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:94625517:G:A
                      Gene:
                      FBP1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1490559414 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        9:94611723 (GRCh38)
                        9:97374005 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:94611722:C:A
                        Gene:
                        FBP1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1490476902 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          9:94618044 (GRCh38)
                          9:97380326 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:94618043:C:G
                          Gene:
                          FBP1 (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:
                          13.

                          rs1490418254 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            9:94634249 (GRCh38)
                            9:97396531 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:94634248:G:A,NC_000009.12:94634248:G:T
                            Gene:
                            FBP1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1490382563 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              9:94633481 (GRCh38)
                              9:97395763 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:94633480:C:A
                              Gene:
                              FBP1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490365097 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:94618992 (GRCh38)
                                9:97381274 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:94618991:G:A
                                Gene:
                                FBP1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1490292064 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  9:94640675 (GRCh38)
                                  9:97402957 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:94640674:C:G,NC_000009.12:94640674:C:T
                                  Gene:
                                  FBP1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.00016/3 (ALFA)
                                  T=0.00045/2 (Estonian)
                                  HGVS:
                                  17.

                                  rs1490080504 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    9:94603060 (GRCh38)
                                    9:97365342 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:94603059:G:T
                                    Gene:
                                    FBP1 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490037281 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:94618067 (GRCh38)
                                      9:97380349 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:94618066:A:G
                                      Gene:
                                      FBP1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489987090 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        9:94617485 (GRCh38)
                                        9:97379767 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:94617484:T:G
                                        Gene:
                                        FBP1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1489899434 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          9:94623960 (GRCh38)
                                          9:97386242 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:94623959:C:T
                                          Gene:
                                          FBP1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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