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Links from Nucleotide

Items: 1 to 20 of 2192

1.

rs781643868 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    9:94641768 (GRCh38)
    9:97404050 (GRCh37)
    Canonical SPDI:
    NC_000009.12:94641767:C:A,NC_000009.12:94641767:C:G
    Gene:
    FBP1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0./0 (TWINSUK)
    G=0.00026/1 (ALSPAC)
    HGVS:
    2.

    rs781606796 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:94607003 (GRCh38)
      9:97369285 (GRCh37)
      Canonical SPDI:
      NC_000009.12:94607002:C:T
      Gene:
      FBP1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000142/2 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000045/12 (TOPMED)
      T=0.00014/17 (ExAC)
      T=0.000152/38 (GnomAD_exomes)
      HGVS:
      3.

      rs781602148 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        9:94639351 (GRCh38)
        9:97401633 (GRCh37)
        Canonical SPDI:
        NC_000009.12:94639350:C:G
        Gene:
        FBP1 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,intron_variant
        Validated:
        by frequency
        MAF:
        G=0.00002/1 (ExAC)
        HGVS:
        4.

        rs781564547 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          9:94609970 (GRCh38)
          9:97372252 (GRCh37)
          Canonical SPDI:
          NC_000009.12:94609969:A:G
          Gene:
          FBP1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000008/1 (ExAC)
          HGVS:
          5.

          rs781514783 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            9:94632971 (GRCh38)
            9:97395253 (GRCh37)
            Canonical SPDI:
            NC_000009.12:94632970:A:C
            Gene:
            FBP1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs781463220 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              9:94603609 (GRCh38)
              9:97365891 (GRCh37)
              Canonical SPDI:
              NC_000009.12:94603608:A:G
              Gene:
              FBP1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000043/1 (ALFA)
              G=0.000008/1 (ExAC)
              G=0.000008/2 (GnomAD_exomes)
              HGVS:
              7.

              rs781409920 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                9:94613266 (GRCh38)
                9:97375548 (GRCh37)
                Canonical SPDI:
                NC_000009.12:94613265:C:A
                Gene:
                FBP1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs781282875 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:94609116 (GRCh38)
                  9:97371398 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:94609115:G:A
                  Gene:
                  FBP1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0./0 (ALSPAC)
                  A=0.000019/5 (TOPMED)
                  A=0.00027/1 (TWINSUK)
                  HGVS:
                  9.

                  rs781200758 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    9:94617872 (GRCh38)
                    9:97380154 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:94617871:A:C,NC_000009.12:94617871:A:G
                    Gene:
                    FBP1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000012/3 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs781153225 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      9:94636687 (GRCh38)
                      9:97398969 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:94636686:A:T
                      Gene:
                      FBP1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0./0 (TWINSUK)
                      T=0.0003/1 (ALSPAC)
                      HGVS:
                      11.

                      rs781090375 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        9:94639116 (GRCh38)
                        9:97401398 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:94639115:G:A,NC_000009.12:94639115:G:T
                        Gene:
                        FBP1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000015/4 (TOPMED)
                        A=0.000034/1 (ExAC)
                        HGVS:
                        12.

                        rs781083460 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:94605603 (GRCh38)
                          9:97367885 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:94605602:G:A
                          Gene:
                          FBP1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.00003/8 (TOPMED)
                          A=0.000043/6 (GnomAD)
                          A=0.000045/11 (GnomAD_exomes)
                          A=0.000071/8 (ExAC)
                          HGVS:
                          13.

                          rs780918919 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            9:94627052 (GRCh38)
                            9:97389334 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:94627051:G:T
                            Gene:
                            FBP1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by cluster
                            HGVS:
                            14.

                            rs780803192 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:94605504 (GRCh38)
                              9:97367786 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:94605503:C:T
                              Gene:
                              FBP1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Clinical significance:
                              pathogenic
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000031/1 (ALFA)
                              T=0.000008/1 (ExAC)
                              T=0.000008/2 (GnomAD_exomes)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs780773186 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->AA [Show Flanks]
                                Chromosome:
                                9:94603545 (GRCh38)
                                9:97365828 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:94603545::AA
                                Gene:
                                FBP1 (Varview)
                                Functional Consequence:
                                frameshift_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                AA=0.000008/1 (ExAC)
                                HGVS:
                                16.

                                rs780747876 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  9:94617236 (GRCh38)
                                  9:97379518 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:94617235:T:C,NC_000009.12:94617235:T:G
                                  Gene:
                                  FBP1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000069/1 (ALFA)
                                  G=0./0 (TWINSUK)
                                  G=0.000128/34 (TOPMED)
                                  G=0.000135/19 (GnomAD)
                                  G=0.000259/1 (ALSPAC)
                                  HGVS:
                                  17.

                                  rs780740329 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:94618671 (GRCh38)
                                    9:97380953 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:94618670:C:T
                                    Gene:
                                    FBP1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0./0 (TWINSUK)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000259/1 (ALSPAC)
                                    HGVS:
                                    18.

                                    rs780650110 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:94620831 (GRCh38)
                                      9:97383113 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:94620830:G:A
                                      Gene:
                                      FBP1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0./0 (TWINSUK)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      A=0.000259/1 (ALSPAC)
                                      HGVS:
                                      19.

                                      rs780548441 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        9:94606858 (GRCh38)
                                        9:97369140 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:94606857:T:G
                                        Gene:
                                        FBP1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0./0 (ExAC)
                                        HGVS:
                                        20.

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