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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490983778 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    4:15940736 (GRCh38)
    4:15942359 (GRCh37)
    Canonical SPDI:
    NC_000004.12:15940735:A:C
    Gene:
    FGFBP1 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1490961851 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      4:15938301 (GRCh38)
      4:15939924 (GRCh37)
      Canonical SPDI:
      NC_000004.12:15938300:T:C
      Gene:
      FGFBP1 (Varview)
      Functional Consequence:
      5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000021/3 (GnomAD)
      C=0.000023/6 (TOPMED)
      C=0.000156/1 (1000Genomes)
      HGVS:
      3.

      rs1490435745 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:15936865 (GRCh38)
        4:15938488 (GRCh37)
        Canonical SPDI:
        NC_000004.12:15936864:G:A
        Gene:
        FGFBP1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490144971 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G,T [Show Flanks]
          Chromosome:
          4:15938643 (GRCh38)
          4:15940266 (GRCh37)
          Canonical SPDI:
          NC_000004.12:15938642:A:G,NC_000004.12:15938642:A:T
          Gene:
          FGFBP1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489541134 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:15940232 (GRCh38)
            4:15941855 (GRCh37)
            Canonical SPDI:
            NC_000004.12:15940231:T:C
            Gene:
            FGFBP1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488721492 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              4:15937820 (GRCh38)
              4:15939443 (GRCh37)
              Canonical SPDI:
              NC_000004.12:15937819:T:C
              Gene:
              FGFBP1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1488205436 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                4:15940119 (GRCh38)
                4:15941742 (GRCh37)
                Canonical SPDI:
                NC_000004.12:15940118:C:T
                Gene:
                FGFBP1 (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=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1487575494 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:15936854 (GRCh38)
                  4:15938477 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:15936853:C:T
                  Gene:
                  FGFBP1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1487123563 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CTCA>- [Show Flanks]
                    Chromosome:
                    4:15940528 (GRCh38)
                    4:15942151 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:15940525:CACTCA:CA
                    Gene:
                    FGFBP1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CA=0./0 (ALFA)
                    -=0.000011/3 (TOPMED)
                    -=0.000036/1 (TOMMO)
                    HGVS:
                    10.

                    rs1486837795 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      4:15936103 (GRCh38)
                      4:15937726 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:15936102:T:C
                      Gene:
                      FGFBP1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1486565262 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CACA>-,CA [Show Flanks]
                        Chromosome:
                        4:15940518 (GRCh38)
                        4:15942141 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:15940512:ACACACACA:ACACA,NC_000004.12:15940512:ACACACACA:ACACACA
                        Gene:
                        FGFBP1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        ACACACA=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1486395047 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          4:15936665 (GRCh38)
                          4:15938288 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:15936664:A:C
                          Gene:
                          FGFBP1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1485929250 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            4:15936478 (GRCh38)
                            4:15938101 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:15936477:C:T
                            Gene:
                            FGFBP1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1485879135 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              4:15940520 (GRCh38)
                              4:15942143 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:15940519:C:T
                              Gene:
                              FGFBP1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1485811072 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:15938122 (GRCh38)
                                4:15939745 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:15938121:A:G
                                Gene:
                                FGFBP1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1485720467 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:15938999 (GRCh38)
                                  4:15940622 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:15938998:G:A
                                  Gene:
                                  FGFBP1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  A=0.000312/2 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1485643135 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:15935720 (GRCh38)
                                    4:15937343 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:15935719:C:T
                                    Gene:
                                    FGFBP1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    T=0.000019/5 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1485450305 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      4:15935299 (GRCh38)
                                      4:15936922 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:15935298:G:A
                                      Gene:
                                      FGFBP1 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1484010287 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        4:15936131 (GRCh38)
                                        4:15937754 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:15936130:T:C
                                        Gene:
                                        FGFBP1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000035/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1483985219 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          4:15938026 (GRCh38)
                                          4:15939649 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:15938025:T:C
                                          Gene:
                                          FGFBP1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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