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Items: 1 to 20 of 1000

1.

rs1490987738 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    11:105036667 (GRCh38)
    11:104907394 (GRCh37)
    Canonical SPDI:
    NC_000011.10:105036666:G:A,NC_000011.10:105036666:G:C
    Gene:
    CASP1 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    C=0.000007/1 (GnomAD)
    A=0.000072/19 (TOPMED)
    HGVS:
    3.

    rs1490359552 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:105033099 (GRCh38)
      11:104903826 (GRCh37)
      Canonical SPDI:
      NC_000011.10:105033098:A:G
      Gene:
      CASP1 (Varview), LOC124902742 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      HGVS:
      4.

      rs1490206604 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        CA>-
        Chromosome:
        no mapping
        Canonical SPDI:
        5.

        rs1490078679 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ATTG>- [Show Flanks]
          Chromosome:
          11:105030784 (GRCh38)
          11:104901511 (GRCh37)
          Canonical SPDI:
          NC_000011.10:105030781:TGATTG:TG
          Gene:
          CASP1 (Varview), LOC124902742 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TG=0.000071/1 (ALFA)
          -=0.000029/4 (GnomAD)
          -=0.000035/1 (TOMMO)
          -=0.000045/12 (TOPMED)
          HGVS:
          6.

          rs1489684225 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            11:105037053 (GRCh38)
            11:104907780 (GRCh37)
            Canonical SPDI:
            NC_000011.10:105037052:C:A,NC_000011.10:105037052:C:T
            Gene:
            CASP1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            8.

            rs1489540733 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:105031146 (GRCh38)
              11:104901873 (GRCh37)
              Canonical SPDI:
              NC_000011.10:105031145:T:C
              Gene:
              CASP1 (Varview), LOC124902742 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000007/1 (GnomAD)
              HGVS:
              9.

              rs1489454401 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                11:105027205 (GRCh38)
                11:104897932 (GRCh37)
                Canonical SPDI:
                NC_000011.10:105027204:C:G
                Gene:
                CASP1 (Varview), LOC124902742 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                11.

                rs1488742680 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  11:105033832 (GRCh38)
                  11:104904559 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:105033831:A:T
                  Gene:
                  CASP1 (Varview), LOC124902742 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  A=0.5/1 (SGDP_PRJ)
                  HGVS:
                  12.

                  rs1488712912 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    11:105035814 (GRCh38)
                    11:104906541 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:105035813:T:C
                    Gene:
                    CASP1 (Varview), LOC124902742 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000011/3 (TOPMED)
                    HGVS:
                    13.

                    rs1488619569 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:105035500 (GRCh38)
                      11:104906227 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:105035499:T:C
                      Gene:
                      CASP1 (Varview), LOC124902742 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      14.

                      rs1488610504 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        11:105028248 (GRCh38)
                        11:104898975 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:105028247:T:G
                        Gene:
                        CASP1 (Varview), LOC124902742 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        15.

                        rs1488553601 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          G>C
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          16.

                          rs1487935323 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->A [Show Flanks]
                            Chromosome:
                            11:105033867 (GRCh38)
                            11:104904595 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:105033867:A:AA
                            Gene:
                            CASP1 (Varview), LOC124902742 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AA=0.0002/1 (ALFA)
                            A=0.0002/1 (Estonian)
                            HGVS:
                            17.

                            rs1487922608 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:105036174 (GRCh38)
                              11:104906901 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:105036173:A:G
                              Gene:
                              CASP1 (Varview), LOC124902742 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000011/3 (TOPMED)
                              HGVS:
                              18.

                              rs1487893043 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:105037358 (GRCh38)
                                11:104908085 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:105037357:A:G
                                Gene:
                                CASP1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000071/2 (TOMMO)
                                G=0.001092/2 (Korea1K)
                                G=0.001369/4 (KOREAN)
                                HGVS:
                                19.

                                rs1487693705 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  11:105036578 (GRCh38)
                                  11:104907305 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:105036577:T:G
                                  Gene:
                                  CASP1 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000023/6 (TOPMED)
                                  HGVS:
                                  20.

                                  rs1487112280 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    11:105031194 (GRCh38)
                                    11:104901921 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:105031193:G:A,NC_000011.10:105031193:G:C
                                    Gene:
                                    CASP1 (Varview), LOC124902742 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,intron_variant,stop_gained
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000011.10:g.105031194G>A, NC_000011.10:g.105031194G>C, NC_000011.9:g.104901921G>A, NC_000011.9:g.104901921G>C, NG_029124.2:g.8937C>T, NG_029124.2:g.8937C>G, NM_001223.5:c.361C>T, NM_001223.5:c.361C>G, NM_001223.4:c.361C>T, NM_001223.4:c.361C>G, NM_033292.4:c.424C>T, NM_033292.4:c.424C>G, NM_033292.3:c.424C>T, NM_033292.3:c.424C>G, NM_033293.4:c.145C>T, NM_033293.4:c.145C>G, NM_033293.3:c.145C>T, NM_033293.3:c.145C>G, NM_033294.4:c.145C>T, NM_033294.4:c.145C>G, NM_033294.3:c.145C>T, NM_033294.3:c.145C>G, NM_001257118.3:c.424C>T, NM_001257118.3:c.424C>G, NM_001257118.2:c.424C>T, NM_001257118.2:c.424C>G, NM_001257118.1:c.424C>T, NM_001257118.1:c.424C>G, NM_001257119.3:c.361C>T, NM_001257119.3:c.361C>G, NM_001257119.2:c.361C>T, NM_001257119.2:c.361C>G, NM_001257119.1:c.361C>T, NM_001257119.1:c.361C>G, XM_017018396.2:c.334C>T, XM_017018396.2:c.334C>G, XM_017018396.1:c.334C>T, XM_017018396.1:c.334C>G, XM_017018393.2:c.556C>T, XM_017018393.2:c.556C>G, XM_017018393.1:c.415C>T, XM_017018393.1:c.415C>G, XM_017018394.2:c.556C>T, XM_017018394.2:c.556C>G, XM_017018394.1:c.415C>T, XM_017018394.1:c.415C>G, XM_017018395.2:c.493C>T, XM_017018395.2:c.493C>G, XM_017018395.1:c.352C>T, XM_017018395.1:c.352C>G, XM_047427675.1:c.376C>T, XM_047427675.1:c.376C>G, NP_001214.1:p.Gln121Ter, NP_001214.1:p.Gln121Glu, NP_150634.1:p.Gln142Ter, NP_150634.1:p.Gln142Glu, NP_150635.1:p.Gln49Ter, NP_150635.1:p.Gln49Glu, NP_150636.1:p.Gln49Ter, NP_150636.1:p.Gln49Glu, NP_001244047.1:p.Gln142Ter, NP_001244047.1:p.Gln142Glu, NP_001244048.1:p.Gln121Ter, NP_001244048.1:p.Gln121Glu, XP_016873885.1:p.Gln112Ter, XP_016873885.1:p.Gln112Glu, XP_016873882.2:p.Gln186Ter, XP_016873882.2:p.Gln186Glu, XP_016873883.2:p.Gln186Ter, XP_016873883.2:p.Gln186Glu, XP_016873884.2:p.Gln165Ter, XP_016873884.2:p.Gln165Glu, XP_047283631.1:p.Gln126Ter, XP_047283631.1:p.Gln126Glu

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