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.

rs1491535143 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    1:74727480 (GRCh38)
    1:75193165 (GRCh37)
    Canonical SPDI:
    NC_000001.11:74727480::T
    Gene:
    CRYZ (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491444771 has merged into rs35216240 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
      Chromosome:
      1:74729144 (GRCh38)
      1:75194828 (GRCh37)
      Canonical SPDI:
      NC_000001.11:74729134:TTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:74729134:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:74729134:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:74729134:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:74729134:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:74729134:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
      Gene:
      CRYZ (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTT=0./0 (ALFA)
      T=0.1911/112 (NorthernSweden)
      T=0.2174/838 (ALSPAC)
      T=0.2271/842 (TWINSUK)
      T=0.25/10 (GENOME_DK)
      T=0.2676/1340 (1000Genomes)
      HGVS:
      3.

      rs1491442681 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        1:74707072 (GRCh38)
        1:75172756 (GRCh37)
        Canonical SPDI:
        NC_000001.11:74707071:TA:
        Gene:
        CRYZ (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.000506/6 (ALFA)
        -=0.000949/73 (GnomAD)
        -=0.001704/191 (ExAC)
        -=0.001921/307 (GnomAD_exomes)
        -=0.003748/19 (1000Genomes)
        -=0.017553/286 (TOMMO)
        -=0.023216/41 (Korea1K)
        HGVS:
        4.

        rs1491333544 has merged into rs142097294 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TCTCTCTC>-,TCTC,TCTCTC,TCTCTCTCTC,TCTCTCTCTCTC [Show Flanks]
          Chromosome:
          1:74729966 (GRCh38)
          1:75195650 (GRCh37)
          Canonical SPDI:
          NC_000001.11:74729956:CTCTCTCTCTCTCTCTC:CTCTCTCTC,NC_000001.11:74729956:CTCTCTCTCTCTCTCTC:CTCTCTCTCTCTC,NC_000001.11:74729956:CTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTC,NC_000001.11:74729956:CTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTC,NC_000001.11:74729956:CTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTC
          Gene:
          CRYZ (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CTCTCTCTCTCTC=0./0 (ALFA)
          CT=0.01167/7 (NorthernSweden)
          CT=0.01719/77 (Estonian)
          CT=0.02381/5 (Vietnamese)
          CT=0.06512/326 (1000Genomes)
          HGVS:
          5.

          rs1491279326 has merged into rs61135741 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>-,T,TTT,TTTT [Show Flanks]
            Chromosome:
            1:74733984 (GRCh38)
            1:75199668 (GRCh37)
            Canonical SPDI:
            NC_000001.11:74733975:TTTTTTTTTT:TTTTTTTT,NC_000001.11:74733975:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:74733975:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:74733975:TTTTTTTTTT:TTTTTTTTTTTT
            Gene:
            CRYZ (Varview), TYW3 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            -=0.1371/561 (Estonian)
            T=0.31605/579 (Korea1K)
            -=0.37917/1828 (1000Genomes)
            HGVS:
            6.

            rs1491230467 has merged into rs10601033 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
              Chromosome:
              1:74707081 (GRCh38)
              1:75172765 (GRCh37)
              Canonical SPDI:
              NC_000001.11:74707072:AAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:74707072:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:74707072:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:74707072:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:74707072:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:74707072:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:74707072:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:74707072:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
              Gene:
              CRYZ (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAA=0./0 (ALFA)
              -=0.3514/1760 (1000Genomes)
              AA=0.4982/1920 (ALSPAC)
              HGVS:
              7.

              rs1491091929 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->TCTGAC [Show Flanks]
                Chromosome:
                1:74728915 (GRCh38)
                1:75194600 (GRCh37)
                Canonical SPDI:
                NC_000001.11:74728915:CTCTGAC:CTCTGACTCTGAC
                Gene:
                CRYZ (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                CTCTGACTCTGAC=0./0 (ALFA)
                HGVS:
                8.

                rs1491053328 has merged into rs61135741 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TT>-,T,TTT,TTTT [Show Flanks]
                  Chromosome:
                  1:74733984 (GRCh38)
                  1:75199668 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:74733975:TTTTTTTTTT:TTTTTTTT,NC_000001.11:74733975:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:74733975:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:74733975:TTTTTTTTTT:TTTTTTTTTTTT
                  Gene:
                  CRYZ (Varview), TYW3 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTT=0./0 (ALFA)
                  -=0.1371/561 (Estonian)
                  T=0.31605/579 (Korea1K)
                  -=0.37917/1828 (1000Genomes)
                  HGVS:
                  9.

                  rs1491035821 has merged into rs71078199 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
                    Chromosome:
                    1:74722606 (GRCh38)
                    1:75188290 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:74722593:ATATATATATATATAT:ATATATATATAT,NC_000001.11:74722593:ATATATATATATATAT:ATATATATATATAT,NC_000001.11:74722593:ATATATATATATATAT:ATATATATATATATATAT,NC_000001.11:74722593:ATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:74722593:ATATATATATATATAT:ATATATATATATATATATATAT
                    Gene:
                    CRYZ (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATATATATATATATATATATAT=0./0 (ALFA)
                    -=0.5/20 (GENOME_DK)
                    HGVS:
                    10.

                    rs1491015765 has merged into rs554351801 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTT [Show Flanks]
                      Chromosome:
                      1:74715922 (GRCh38)
                      1:75181606 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:74715908:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:74715908:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:74715908:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:74715908:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:74715908:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:74715908:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      CRYZ (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTTTTTT=0./0 (ALFA)
                      T=0.0301/18 (NorthernSweden)
                      T=0.15/6 (GENOME_DK)
                      HGVS:
                      11.

                      rs1491001652 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        1:74710993 (GRCh38)
                        1:75176677 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:74710992:A:T
                        Gene:
                        CRYZ (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        13.

                        rs1490890759 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->AGC [Show Flanks]
                          Chromosome:
                          1:74732583 (GRCh38)
                          1:75198268 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:74732583:AGC:AGCAGC
                          Gene:
                          CRYZ (Varview), TYW3 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AGCAGC=0.000071/1 (ALFA)
                          AGC=0.000004/1 (TOPMED)
                          AGC=0.00001/1 (GnomAD)
                          HGVS:
                          14.

                          rs1490687817 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:74727179 (GRCh38)
                            1:75192863 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:74727178:G:A
                            Gene:
                            CRYZ (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            16.

                            rs1490512332 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              1:74711359 (GRCh38)
                              1:75177043 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:74711358:T:A
                              Gene:
                              CRYZ (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              17.

                              rs1490242022 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                1:74714363 (GRCh38)
                                1:75180047 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:74714362:T:G
                                Gene:
                                CRYZ (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                18.

                                rs1490153789 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:74734350 (GRCh38)
                                  1:75200034 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:74734349:T:C
                                  Gene:
                                  CRYZ (Varview), TYW3 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  19.

                                  rs1490104960 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:74720102 (GRCh38)
                                    1:75185786 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:74720101:C:T
                                    Gene:
                                    CRYZ (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    20.

                                    rs1490038181 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GAA>- [Show Flanks]
                                      Chromosome:
                                      1:74731506 (GRCh38)
                                      1:75197190 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:74731503:AAGAA:AA
                                      Gene:
                                      CRYZ (Varview), TYW3 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AA=0./0 (ALFA)
                                      -=0.000014/2 (GnomAD)
                                      -=0.000019/5 (TOPMED)
                                      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...