U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 1000

1.

rs1491588019 has merged into rs1375841942 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AT>-,ATAT [Show Flanks]
    Chromosome:
    5:131785075 (GRCh38)
    5:131120768 (GRCh37)
    Canonical SPDI:
    NC_000005.10:131785068:ATATATAT:ATATAT,NC_000005.10:131785068:ATATATAT:ATATATATAT
    Gene:
    FNIP1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATAT=0./0 (ALFA)
    -=0.00021/4 (TOMMO)
    HGVS:
    2.

    rs1491556738 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      5:131785069 (GRCh38)
      5:131120763 (GRCh37)
      Canonical SPDI:
      NC_000005.10:131785069::C
      Gene:
      FNIP1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.00008/1 (ALFA)
      C=0.00995/120 (GnomAD)
      HGVS:
      3.

      rs1491553981 has merged into rs11292297 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTT>-,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        5:131665908 (GRCh38)
        5:131001601 (GRCh37)
        Canonical SPDI:
        NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131665899:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        FNIP1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
        T=0.03442/19 (NorthernSweden)
        HGVS:
        4.

        rs1491553856 has merged into rs368323566 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          5:131685464 (GRCh38)
          5:131021157 (GRCh37)
          Canonical SPDI:
          NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:131685448:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          FNIP1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTTTTT=0./0 (ALFA)
          -=0.2/8 (GENOME_DK)
          -=0.4734/2371 (1000Genomes)
          HGVS:
          NC_000005.10:g.131685464_131685466del, NC_000005.10:g.131685465_131685466del, NC_000005.10:g.131685466del, NC_000005.10:g.131685466dup, NC_000005.10:g.131685465_131685466dup, NC_000005.10:g.131685464_131685466dup, NC_000005.10:g.131685463_131685466dup, NC_000005.10:g.131685462_131685466dup, NC_000005.10:g.131685461_131685466dup, NC_000005.10:g.131685460_131685466dup, NC_000005.10:g.131685457_131685466dup, NC_000005.9:g.131021157_131021159del, NC_000005.9:g.131021158_131021159del, NC_000005.9:g.131021159del, NC_000005.9:g.131021159dup, NC_000005.9:g.131021158_131021159dup, NC_000005.9:g.131021157_131021159dup, NC_000005.9:g.131021156_131021159dup, NC_000005.9:g.131021155_131021159dup, NC_000005.9:g.131021154_131021159dup, NC_000005.9:g.131021153_131021159dup, NC_000005.9:g.131021150_131021159dup
          5.

          rs1491535157 has merged into rs10579529 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
            Chromosome:
            5:131772431 (GRCh38)
            5:131108124 (GRCh37)
            Canonical SPDI:
            NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
            Gene:
            FNIP1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            6.

            rs1491514557 has merged into rs1338135774 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AT>-,ATAT [Show Flanks]
              Chromosome:
              5:131785097 (GRCh38)
              5:131120790 (GRCh37)
              Canonical SPDI:
              NC_000005.10:131785090:ATATATAT:ATATAT,NC_000005.10:131785090:ATATATAT:ATATATATAT
              Gene:
              FNIP1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATATATATAT=0./0 (ALFA)
              HGVS:
              7.

              rs1491510922 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->TTA
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1491488882 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  5:131697968 (GRCh38)
                  5:131033661 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:131697967:CA:
                  Gene:
                  FNIP1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491475918 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    5:131785029 (GRCh38)
                    5:131120722 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:131785027:ACA:A
                    Gene:
                    FNIP1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    -=0.00004/1 (TOMMO)
                    -=0.00165/19 (GnomAD)
                    HGVS:
                    10.

                    rs1491457961 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->TTTTTTTTTTTTTTTTTTTTTTTG
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1491453223 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->C,TATATATATAGTC,TATATATATATATC,TATATATATATC,TATATATATC [Show Flanks]
                        Chromosome:
                        5:131785028 (GRCh38)
                        5:131120722 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:131785028:C:CC,NC_000005.10:131785028:C:CTATATATATAGTC,NC_000005.10:131785028:C:CTATATATATATATC,NC_000005.10:131785028:C:CTATATATATATC,NC_000005.10:131785028:C:CTATATATATC
                        Gene:
                        FNIP1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CTATATATATAGTC=0./0 (ALFA)
                        CTATATATAT=0.00102/12 (GnomAD)
                        HGVS:
                        12.

                        rs1491409235 has merged into rs70974007 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
                          Chromosome:
                          5:131693343 (GRCh38)
                          5:131029036 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:131693333:ATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
                          Gene:
                          FNIP1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          ATATATATATA=0./0 (ALFA)
                          HGVS:
                          NC_000005.10:g.131693335TA[4], NC_000005.10:g.131693335TA[5], NC_000005.10:g.131693335TA[6], NC_000005.10:g.131693335TA[7], NC_000005.10:g.131693335TA[8], NC_000005.10:g.131693335TA[9], NC_000005.10:g.131693335TA[10], NC_000005.10:g.131693335TA[11], NC_000005.10:g.131693335TA[12], NC_000005.10:g.131693335TA[13], NC_000005.10:g.131693335TA[15], NC_000005.10:g.131693335TA[16], NC_000005.10:g.131693335TA[17], NC_000005.10:g.131693335TA[18], NC_000005.10:g.131693335TA[19], NC_000005.10:g.131693335TA[20], NC_000005.10:g.131693335TA[21], NC_000005.10:g.131693335TA[22], NC_000005.10:g.131693335TA[23], NC_000005.10:g.131693335TA[25], NC_000005.10:g.131693335TA[26], NC_000005.10:g.131693335TA[28], NC_000005.10:g.131693335TA[33], NC_000005.9:g.131029028TA[4], NC_000005.9:g.131029028TA[5], NC_000005.9:g.131029028TA[6], NC_000005.9:g.131029028TA[7], NC_000005.9:g.131029028TA[8], NC_000005.9:g.131029028TA[9], NC_000005.9:g.131029028TA[10], NC_000005.9:g.131029028TA[11], NC_000005.9:g.131029028TA[12], NC_000005.9:g.131029028TA[13], NC_000005.9:g.131029028TA[15], NC_000005.9:g.131029028TA[16], NC_000005.9:g.131029028TA[17], NC_000005.9:g.131029028TA[18], NC_000005.9:g.131029028TA[19], NC_000005.9:g.131029028TA[20], NC_000005.9:g.131029028TA[21], NC_000005.9:g.131029028TA[22], NC_000005.9:g.131029028TA[23], NC_000005.9:g.131029028TA[25], NC_000005.9:g.131029028TA[26], NC_000005.9:g.131029028TA[28], NC_000005.9:g.131029028TA[33]
                          13.

                          rs1491403284 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TG>- [Show Flanks]
                            Chromosome:
                            5:131662757 (GRCh38)
                            5:130998450 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:131662756:TG:
                            Gene:
                            FNIP1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0.01467/174 (ALFA)
                            -=0.00067/64 (GnomAD)
                            -=0.00584/165 (TOMMO)
                            HGVS:
                            14.

                            rs1491377761 has merged into rs1449142035 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AT>-,ATAT [Show Flanks]
                              Chromosome:
                              5:131785120 (GRCh38)
                              5:131120813 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:131785113:ATATATAT:ATATAT,NC_000005.10:131785113:ATATATAT:ATATATATAT
                              Gene:
                              FNIP1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ATATATATAT=0./0 (ALFA)
                              -=0.0001/1 (GnomAD)
                              HGVS:
                              15.

                              rs1491372861 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                5:131785091 (GRCh38)
                                5:131120785 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:131785091::C
                                Gene:
                                FNIP1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491369780 has merged into rs60617618 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  5:131794239 (GRCh38)
                                  5:131129932 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:131794229:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  FNIP1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAA=0./0 (ALFA)
                                  HGVS:
                                  NC_000005.10:g.131794239_131794254del, NC_000005.10:g.131794242_131794254del, NC_000005.10:g.131794244_131794254del, NC_000005.10:g.131794246_131794254del, NC_000005.10:g.131794247_131794254del, NC_000005.10:g.131794248_131794254del, NC_000005.10:g.131794249_131794254del, NC_000005.10:g.131794250_131794254del, NC_000005.10:g.131794251_131794254del, NC_000005.10:g.131794252_131794254del, NC_000005.10:g.131794253_131794254del, NC_000005.10:g.131794254del, NC_000005.10:g.131794254dup, NC_000005.10:g.131794253_131794254dup, NC_000005.10:g.131794252_131794254dup, NC_000005.10:g.131794251_131794254dup, NC_000005.10:g.131794250_131794254dup, NC_000005.10:g.131794249_131794254dup, NC_000005.10:g.131794247_131794254dup, NC_000005.10:g.131794242_131794254dup, NC_000005.10:g.131794254_131794255insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.131794230_131794254A[29]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.131129932_131129947del, NC_000005.9:g.131129935_131129947del, NC_000005.9:g.131129937_131129947del, NC_000005.9:g.131129939_131129947del, NC_000005.9:g.131129940_131129947del, NC_000005.9:g.131129941_131129947del, NC_000005.9:g.131129942_131129947del, NC_000005.9:g.131129943_131129947del, NC_000005.9:g.131129944_131129947del, NC_000005.9:g.131129945_131129947del, NC_000005.9:g.131129946_131129947del, NC_000005.9:g.131129947del, NC_000005.9:g.131129947dup, NC_000005.9:g.131129946_131129947dup, NC_000005.9:g.131129945_131129947dup, NC_000005.9:g.131129944_131129947dup, NC_000005.9:g.131129943_131129947dup, NC_000005.9:g.131129942_131129947dup, NC_000005.9:g.131129940_131129947dup, NC_000005.9:g.131129935_131129947dup, NC_000005.9:g.131129947_131129948insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.131129923_131129947A[29]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
                                  17.

                                  rs1491358100 [Homo sapiens]
                                    Variant type:
                                    SNV:
                                    Alleles:
                                    ->T
                                    Chromosome:
                                    no mapping
                                    Canonical SPDI:
                                    18.

                                    rs1491336329 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                                      Chromosome:
                                      5:131661218 (GRCh38)
                                      5:130996912 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:131661218:T:TGT,NC_000005.10:131661218:T:TGTGT,NC_000005.10:131661218:T:TGTGTGT,NC_000005.10:131661218:T:TGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:131661218:T:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                                      Gene:
                                      FNIP1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TGTGT=0./0 (ALFA)
                                      TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000005.10:g.131661219_131661220insGT, NC_000005.10:g.131661219_131661220insGTGT, NC_000005.10:g.131661220GT[3], NC_000005.10:g.131661220GT[4], NC_000005.10:g.131661220GT[5], NC_000005.10:g.131661220GT[6], NC_000005.10:g.131661220GT[7], NC_000005.10:g.131661220GT[8], NC_000005.10:g.131661220GT[9], NC_000005.10:g.131661220GT[10], NC_000005.10:g.131661220GT[11], NC_000005.10:g.131661220GT[12], NC_000005.10:g.131661220GT[13], NC_000005.10:g.131661220GT[15], NC_000005.9:g.130996912_130996913insGT, NC_000005.9:g.130996912_130996913insGTGT, NC_000005.9:g.130996913GT[3], NC_000005.9:g.130996913GT[4], NC_000005.9:g.130996913GT[5], NC_000005.9:g.130996913GT[6], NC_000005.9:g.130996913GT[7], NC_000005.9:g.130996913GT[8], NC_000005.9:g.130996913GT[9], NC_000005.9:g.130996913GT[10], NC_000005.9:g.130996913GT[11], NC_000005.9:g.130996913GT[12], NC_000005.9:g.130996913GT[13], NC_000005.9:g.130996913GT[15]
                                      19.

                                      rs1491326494 has merged into rs34731837 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TT>-,T,TTT,TTTT [Show Flanks]
                                        Chromosome:
                                        5:131661220 (GRCh38)
                                        5:130996913 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:131661217:TTTT:TT,NC_000005.10:131661217:TTTT:TTT,NC_000005.10:131661217:TTTT:TTTTT,NC_000005.10:131661217:TTTT:TTTTTT
                                        Gene:
                                        FNIP1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTT=0./0 (ALFA)
                                        -=0.00431/2 (NorthernSweden)
                                        -=0.00761/118 (TOMMO)
                                        -=0.01559/27 (Korea1K)
                                        TT=0.20541/205 (GoNL)
                                        HGVS:
                                        20.

                                        rs1491307423 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          CT>- [Show Flanks]
                                          Chromosome:
                                          5:131665899 (GRCh38)
                                          5:131001592 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:131665898:CT:
                                          Gene:
                                          FNIP1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.007081/84 (ALFA)
                                          -=0.009041/953 (GnomAD)
                                          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...