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Items: 1 to 20 of 3151

1.

rs1490854508 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    8:22043222 (GRCh38)
    8:21900733 (GRCh37)
    Canonical SPDI:
    NC_000008.11:22043221:C:A
    Gene:
    FGF17 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
    HGVS:
    2.

    rs1490763588 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      8:22039069 (GRCh38)
      8:21896580 (GRCh37)
      Canonical SPDI:
      NC_000008.11:22039068:C:T
      Gene:
      FGF17 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490623366 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        8:22047017 (GRCh38)
        8:21904528 (GRCh37)
        Canonical SPDI:
        NC_000008.11:22047016:G:A
        Gene:
        DMTN (Varview), FGF17 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000008/1 (GnomAD)
        HGVS:
        4.

        rs1490611263 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          8:22044340 (GRCh38)
          8:21901851 (GRCh37)
          Canonical SPDI:
          NC_000008.11:22044339:G:A
          Gene:
          FGF17 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000023/6 (TOPMED)
          A=0.001667/1 (NorthernSweden)
          HGVS:
          5.

          rs1490362986 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            8:22042884 (GRCh38)
            8:21900395 (GRCh37)
            Canonical SPDI:
            NC_000008.11:22042883:G:A
            Gene:
            FGF17 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
            HGVS:
            6.

            rs1490033943 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              8:22046252 (GRCh38)
              8:21903763 (GRCh37)
              Canonical SPDI:
              NC_000008.11:22046251:C:T
              Gene:
              FGF17 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              7.

              rs1489941162 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                8:22043313 (GRCh38)
                8:21900824 (GRCh37)
                Canonical SPDI:
                NC_000008.11:22043312:G:A
                Gene:
                FGF17 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1489831778 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:22048896 (GRCh38)
                  8:21906407 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:22048895:C:T
                  Gene:
                  DMTN (Varview), FGF17 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489184705 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    8:22044302 (GRCh38)
                    8:21901813 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:22044301:A:G
                    Gene:
                    FGF17 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.00003/8 (TOPMED)
                    G=0.000043/6 (GnomAD)
                    HGVS:
                    10.

                    rs1489078054 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      8:22039466 (GRCh38)
                      8:21896977 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:22039465:T:C
                      Gene:
                      FGF17 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488937506 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        8:22047257 (GRCh38)
                        8:21904768 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:22047256:A:G
                        Gene:
                        DMTN (Varview), FGF17 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1488647491 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          8:22047914 (GRCh38)
                          8:21905425 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:22047913:G:A
                          Gene:
                          DMTN (Varview), FGF17 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488384137 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            8:22037934 (GRCh38)
                            8:21895445 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:22037933:G:T
                            Gene:
                            FGF17 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000342/1 (KOREAN)
                            HGVS:
                            14.
                            15.

                            rs1488099695 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              8:22040604 (GRCh38)
                              8:21898115 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:22040603:C:G
                              Gene:
                              FGF17 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              16.

                              rs1487562425 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                8:22044497 (GRCh38)
                                8:21902008 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:22044496:C:G,NC_000008.11:22044496:C:T
                                Gene:
                                FGF17 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.00006/4 (GnomAD)
                                G=0.00927/27 (KOREAN)
                                HGVS:
                                17.

                                rs1487376808 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:22048408 (GRCh38)
                                  8:21905919 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:22048407:C:T
                                  Gene:
                                  DMTN (Varview), FGF17 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000023/6 (TOPMED)
                                  T=0.000036/5 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1487277204 has merged into rs3038873 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    8:22046961 (GRCh38)
                                    8:21904472 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    DMTN (Varview), FGF17 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTT=0./0 (ALFA)
                                    HGVS:
                                    NC_000008.11:g.22046961_22046967del, NC_000008.11:g.22046962_22046967del, NC_000008.11:g.22046963_22046967del, NC_000008.11:g.22046964_22046967del, NC_000008.11:g.22046965_22046967del, NC_000008.11:g.22046966_22046967del, NC_000008.11:g.22046967del, NC_000008.11:g.22046967dup, NC_000008.11:g.22046966_22046967dup, NC_000008.11:g.22046965_22046967dup, NC_000008.11:g.22046964_22046967dup, NC_000008.11:g.22046963_22046967dup, NC_000008.11:g.22046962_22046967dup, NC_000008.11:g.22046961_22046967dup, NC_000008.11:g.22046960_22046967dup, NC_000008.11:g.22046959_22046967dup, NC_000008.11:g.22046958_22046967dup, NC_000008.11:g.22046957_22046967dup, NC_000008.11:g.22046956_22046967dup, NC_000008.11:g.22046955_22046967dup, NC_000008.11:g.22046954_22046967dup, NC_000008.11:g.22046953_22046967dup, NC_000008.11:g.22046952_22046967dup, NC_000008.11:g.22046951_22046967dup, NC_000008.11:g.22046967_22046968insTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22046967_22046968insTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22046967_22046968insTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22046967_22046968insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.21904472_21904478del, NC_000008.10:g.21904473_21904478del, NC_000008.10:g.21904474_21904478del, NC_000008.10:g.21904475_21904478del, NC_000008.10:g.21904476_21904478del, NC_000008.10:g.21904477_21904478del, NC_000008.10:g.21904478del, NC_000008.10:g.21904478dup, NC_000008.10:g.21904477_21904478dup, NC_000008.10:g.21904476_21904478dup, NC_000008.10:g.21904475_21904478dup, NC_000008.10:g.21904474_21904478dup, NC_000008.10:g.21904473_21904478dup, NC_000008.10:g.21904472_21904478dup, NC_000008.10:g.21904471_21904478dup, NC_000008.10:g.21904470_21904478dup, NC_000008.10:g.21904469_21904478dup, NC_000008.10:g.21904468_21904478dup, NC_000008.10:g.21904467_21904478dup, NC_000008.10:g.21904466_21904478dup, NC_000008.10:g.21904465_21904478dup, NC_000008.10:g.21904464_21904478dup, NC_000008.10:g.21904463_21904478dup, NC_000008.10:g.21904462_21904478dup, NC_000008.10:g.21904478_21904479insTTTTTTTTTTTTTTTTTT, NC_000008.10:g.21904478_21904479insTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.21904478_21904479insTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.21904478_21904479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033889.1:g.9045_9051del, NG_033889.1:g.9046_9051del, NG_033889.1:g.9047_9051del, NG_033889.1:g.9048_9051del, NG_033889.1:g.9049_9051del, NG_033889.1:g.9050_9051del, NG_033889.1:g.9051del, NG_033889.1:g.9051dup, NG_033889.1:g.9050_9051dup, NG_033889.1:g.9049_9051dup, NG_033889.1:g.9048_9051dup, NG_033889.1:g.9047_9051dup, NG_033889.1:g.9046_9051dup, NG_033889.1:g.9045_9051dup, NG_033889.1:g.9044_9051dup, NG_033889.1:g.9043_9051dup, NG_033889.1:g.9042_9051dup, NG_033889.1:g.9041_9051dup, NG_033889.1:g.9040_9051dup, NG_033889.1:g.9039_9051dup, NG_033889.1:g.9038_9051dup, NG_033889.1:g.9037_9051dup, NG_033889.1:g.9036_9051dup, NG_033889.1:g.9035_9051dup, NG_033889.1:g.9051_9052insTTTTTTTTTTTTTTTTTT, NG_033889.1:g.9051_9052insTTTTTTTTTTTTTTTTTTT, NG_033889.1:g.9051_9052insTTTTTTTTTTTTTTTTTTTT, NG_033889.1:g.9051_9052insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    19.

                                    rs1487227128 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      8:22043048 (GRCh38)
                                      8:21900559 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:22043047:G:A
                                      Gene:
                                      FGF17 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1487140055 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        8:22044149 (GRCh38)
                                        8:21901660 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:22044148:C:T
                                        Gene:
                                        FGF17 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:

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