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Items: 1 to 20 of 239

1.

rs1478790206 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    11:72001544 (GRCh38)
    11:71712590 (GRCh37)
    Canonical SPDI:
    NC_000011.10:72001543:C:A,NC_000011.10:72001543:C:G
    Gene:
    IL18BP (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.72001544C>A, NC_000011.10:g.72001544C>G, NC_000011.9:g.71712590C>A, NC_000011.9:g.71712590C>G, NG_029021.1:g.7633C>A, NG_029021.1:g.7633C>G, NM_005699.3:c.499C>A, NM_005699.3:c.499C>G, NM_173042.2:c.499C>A, NM_173042.2:c.499C>G, NM_001039659.2:c.499C>A, NM_001039659.2:c.499C>G, NM_001039659.1:c.499C>A, NM_001039659.1:c.499C>G, NM_001039660.2:c.499C>A, NM_001039660.2:c.499C>G, NM_001039660.1:c.499C>A, NM_001039660.1:c.499C>G, NM_001145057.1:c.499C>A, NM_001145057.1:c.499C>G, XM_017017061.3:c.499C>A, XM_017017061.3:c.499C>G, XM_017017061.2:c.499C>A, XM_017017061.2:c.499C>G, XM_017017061.1:c.499C>A, XM_017017061.1:c.499C>G, XM_017017059.2:c.499C>A, XM_017017059.2:c.499C>G, XM_017017059.1:c.499C>A, XM_017017059.1:c.499C>G, XM_024448304.2:c.499C>A, XM_024448304.2:c.499C>G, XM_024448304.1:c.499C>A, XM_024448304.1:c.499C>G, XM_024448303.2:c.499C>A, XM_024448303.2:c.499C>G, XM_024448303.1:c.499C>A, XM_024448303.1:c.499C>G, XM_017017063.2:c.499C>A, XM_017017063.2:c.499C>G, XM_017017063.1:c.499C>A, XM_017017063.1:c.499C>G, XM_047426203.1:c.499C>A, XM_047426203.1:c.499C>G, XM_047426206.1:c.499C>A, XM_047426206.1:c.499C>G, XM_047426207.1:c.499C>A, XM_047426207.1:c.499C>G, XM_047426204.1:c.499C>A, XM_047426204.1:c.499C>G, XM_047426208.1:c.499C>A, XM_047426208.1:c.499C>G, XM_047426205.1:c.499C>A, XM_047426205.1:c.499C>G, NP_005690.2:p.Gln167Lys, NP_005690.2:p.Gln167Glu, NP_766630.2:p.Gln167Lys, NP_766630.2:p.Gln167Glu, NP_001034748.1:p.Gln167Lys, NP_001034748.1:p.Gln167Glu, NP_001034749.1:p.Gln167Lys, NP_001034749.1:p.Gln167Glu, NP_001138529.1:p.Gln167Lys, NP_001138529.1:p.Gln167Glu, XP_016872550.1:p.Gln167Lys, XP_016872550.1:p.Gln167Glu, XP_016872548.1:p.Gln167Lys, XP_016872548.1:p.Gln167Glu, XP_024304072.1:p.Gln167Lys, XP_024304072.1:p.Gln167Glu, XP_024304071.1:p.Gln167Lys, XP_024304071.1:p.Gln167Glu, XP_016872552.1:p.Gln167Lys, XP_016872552.1:p.Gln167Glu, XP_047282159.1:p.Gln167Lys, XP_047282159.1:p.Gln167Glu, XP_047282162.1:p.Gln167Lys, XP_047282162.1:p.Gln167Glu, XP_047282163.1:p.Gln167Lys, XP_047282163.1:p.Gln167Glu, XP_047282160.1:p.Gln167Lys, XP_047282160.1:p.Gln167Glu, XP_047282164.1:p.Gln167Lys, XP_047282164.1:p.Gln167Glu, XP_047282161.1:p.Gln167Lys, XP_047282161.1:p.Gln167Glu

    2.

    rs1474042269 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:72000557 (GRCh38)
      11:71711603 (GRCh37)
      Canonical SPDI:
      NC_000011.10:72000556:A:G
      Gene:
      IL18BP (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_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:
      NC_000011.10:g.72000557A>G, NC_000011.9:g.71711603A>G, NG_029021.1:g.6646A>G, NM_005699.3:c.235A>G, NM_173044.3:c.235A>G, NM_173044.2:c.235A>G, NM_173042.2:c.235A>G, NM_001039659.2:c.235A>G, NM_001039659.1:c.235A>G, NM_001039660.2:c.235A>G, NM_001039660.1:c.235A>G, NM_001145057.1:c.235A>G, NM_001145055.1:c.235A>G, XM_017017061.3:c.235A>G, XM_017017061.2:c.235A>G, XM_017017061.1:c.235A>G, XM_017017059.2:c.235A>G, XM_017017059.1:c.235A>G, XM_024448304.2:c.235A>G, XM_024448304.1:c.235A>G, XM_024448303.2:c.235A>G, XM_024448303.1:c.235A>G, XM_017017063.2:c.235A>G, XM_017017063.1:c.235A>G, XM_047426203.1:c.235A>G, XM_047426206.1:c.235A>G, XM_047426207.1:c.235A>G, XM_047426204.1:c.235A>G, XM_047426208.1:c.235A>G, XM_047426205.1:c.235A>G, NM_173043.1:c.229A>G, NP_005690.2:p.Asn79Asp, NP_766632.2:p.Asn79Asp, NP_766630.2:p.Asn79Asp, NP_001034748.1:p.Asn79Asp, NP_001034749.1:p.Asn79Asp, NP_001138529.1:p.Asn79Asp, NP_001138527.1:p.Ser79Gly, XP_016872550.1:p.Asn79Asp, XP_016872548.1:p.Asn79Asp, XP_024304072.1:p.Asn79Asp, XP_024304071.1:p.Asn79Asp, XP_016872552.1:p.Asn79Asp, XP_047282159.1:p.Asn79Asp, XP_047282162.1:p.Asn79Asp, XP_047282163.1:p.Asn79Asp, XP_047282160.1:p.Asn79Asp, XP_047282164.1:p.Asn79Asp, XP_047282161.1:p.Asn79Asp

      3.

      rs1463130616 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,G [Show Flanks]
        Chromosome:
        11:72001255 (GRCh38)
        11:71712301 (GRCh37)
        Canonical SPDI:
        NC_000011.10:72001254:T:A,NC_000011.10:72001254:T:G
        Gene:
        IL18BP (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        NC_000011.10:g.72001255T>A, NC_000011.10:g.72001255T>G, NC_000011.9:g.71712301T>A, NC_000011.9:g.71712301T>G, NG_029021.1:g.7344T>A, NG_029021.1:g.7344T>G, NM_005699.3:c.290T>A, NM_005699.3:c.290T>G, NM_173044.3:c.290T>A, NM_173044.3:c.290T>G, NM_173044.2:c.290T>A, NM_173044.2:c.290T>G, NM_173042.2:c.290T>A, NM_173042.2:c.290T>G, NM_001039659.2:c.290T>A, NM_001039659.2:c.290T>G, NM_001039659.1:c.290T>A, NM_001039659.1:c.290T>G, NM_001039660.2:c.290T>A, NM_001039660.2:c.290T>G, NM_001039660.1:c.290T>A, NM_001039660.1:c.290T>G, NM_001145057.1:c.290T>A, NM_001145057.1:c.290T>G, XM_017017061.3:c.290T>A, XM_017017061.3:c.290T>G, XM_017017061.2:c.290T>A, XM_017017061.2:c.290T>G, XM_017017061.1:c.290T>A, XM_017017061.1:c.290T>G, XM_017017059.2:c.290T>A, XM_017017059.2:c.290T>G, XM_017017059.1:c.290T>A, XM_017017059.1:c.290T>G, XM_024448304.2:c.290T>A, XM_024448304.2:c.290T>G, XM_024448304.1:c.290T>A, XM_024448304.1:c.290T>G, XM_024448303.2:c.290T>A, XM_024448303.2:c.290T>G, XM_024448303.1:c.290T>A, XM_024448303.1:c.290T>G, XM_017017063.2:c.290T>A, XM_017017063.2:c.290T>G, XM_017017063.1:c.290T>A, XM_017017063.1:c.290T>G, XM_047426203.1:c.290T>A, XM_047426203.1:c.290T>G, XM_047426206.1:c.290T>A, XM_047426206.1:c.290T>G, XM_047426207.1:c.290T>A, XM_047426207.1:c.290T>G, XM_047426204.1:c.290T>A, XM_047426204.1:c.290T>G, XM_047426208.1:c.290T>A, XM_047426208.1:c.290T>G, XM_047426205.1:c.290T>A, XM_047426205.1:c.290T>G, NP_005690.2:p.Ile97Asn, NP_005690.2:p.Ile97Ser, NP_766632.2:p.Ile97Asn, NP_766632.2:p.Ile97Ser, NP_766630.2:p.Ile97Asn, NP_766630.2:p.Ile97Ser, NP_001034748.1:p.Ile97Asn, NP_001034748.1:p.Ile97Ser, NP_001034749.1:p.Ile97Asn, NP_001034749.1:p.Ile97Ser, NP_001138529.1:p.Ile97Asn, NP_001138529.1:p.Ile97Ser, XP_016872550.1:p.Ile97Asn, XP_016872550.1:p.Ile97Ser, XP_016872548.1:p.Ile97Asn, XP_016872548.1:p.Ile97Ser, XP_024304072.1:p.Ile97Asn, XP_024304072.1:p.Ile97Ser, XP_024304071.1:p.Ile97Asn, XP_024304071.1:p.Ile97Ser, XP_016872552.1:p.Ile97Asn, XP_016872552.1:p.Ile97Ser, XP_047282159.1:p.Ile97Asn, XP_047282159.1:p.Ile97Ser, XP_047282162.1:p.Ile97Asn, XP_047282162.1:p.Ile97Ser, XP_047282163.1:p.Ile97Asn, XP_047282163.1:p.Ile97Ser, XP_047282160.1:p.Ile97Asn, XP_047282160.1:p.Ile97Ser, XP_047282164.1:p.Ile97Asn, XP_047282164.1:p.Ile97Ser, XP_047282161.1:p.Ile97Asn, XP_047282161.1:p.Ile97Ser

        4.

        rs1456442556 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:72001541 (GRCh38)
          11:71712587 (GRCh37)
          Canonical SPDI:
          NC_000011.10:72001540:G:A
          Gene:
          IL18BP (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          A=0.000015/4 (TOPMED)
          HGVS:
          NC_000011.10:g.72001541G>A, NC_000011.9:g.71712587G>A, NG_029021.1:g.7630G>A, NM_005699.3:c.496G>A, NM_173042.2:c.496G>A, NM_001039659.2:c.496G>A, NM_001039659.1:c.496G>A, NM_001039660.2:c.496G>A, NM_001039660.1:c.496G>A, NM_001145057.1:c.496G>A, XM_017017061.3:c.496G>A, XM_017017061.2:c.496G>A, XM_017017061.1:c.496G>A, XM_017017059.2:c.496G>A, XM_017017059.1:c.496G>A, XM_024448304.2:c.496G>A, XM_024448304.1:c.496G>A, XM_024448303.2:c.496G>A, XM_024448303.1:c.496G>A, XM_017017063.2:c.496G>A, XM_017017063.1:c.496G>A, XM_047426203.1:c.496G>A, XM_047426206.1:c.496G>A, XM_047426207.1:c.496G>A, XM_047426204.1:c.496G>A, XM_047426208.1:c.496G>A, XM_047426205.1:c.496G>A, NP_005690.2:p.Ala166Thr, NP_766630.2:p.Ala166Thr, NP_001034748.1:p.Ala166Thr, NP_001034749.1:p.Ala166Thr, NP_001138529.1:p.Ala166Thr, XP_016872550.1:p.Ala166Thr, XP_016872548.1:p.Ala166Thr, XP_024304072.1:p.Ala166Thr, XP_024304071.1:p.Ala166Thr, XP_016872552.1:p.Ala166Thr, XP_047282159.1:p.Ala166Thr, XP_047282162.1:p.Ala166Thr, XP_047282163.1:p.Ala166Thr, XP_047282160.1:p.Ala166Thr, XP_047282164.1:p.Ala166Thr, XP_047282161.1:p.Ala166Thr

          5.

          rs1456368886 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:72000407 (GRCh38)
            11:71711453 (GRCh37)
            Canonical SPDI:
            NC_000011.10:72000406:A:G
            Gene:
            IL18BP (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.72000407A>G, NC_000011.9:g.71711453A>G, NG_029021.1:g.6496A>G, NM_005699.3:c.85A>G, NM_173044.3:c.85A>G, NM_173044.2:c.85A>G, NM_173042.2:c.85A>G, NM_001039659.2:c.85A>G, NM_001039659.1:c.85A>G, NM_001039660.2:c.85A>G, NM_001039660.1:c.85A>G, NM_001145057.1:c.85A>G, NM_001145055.1:c.85A>G, XM_017017061.3:c.85A>G, XM_017017061.2:c.85A>G, XM_017017061.1:c.85A>G, XM_017017059.2:c.85A>G, XM_017017059.1:c.85A>G, XM_024448304.2:c.85A>G, XM_024448304.1:c.85A>G, XM_024448303.2:c.85A>G, XM_024448303.1:c.85A>G, XM_017017063.2:c.85A>G, XM_017017063.1:c.85A>G, XM_047426203.1:c.85A>G, XM_047426206.1:c.85A>G, XM_047426207.1:c.85A>G, XM_047426204.1:c.85A>G, XM_047426208.1:c.85A>G, XM_047426205.1:c.85A>G, NM_173043.1:c.79A>G, NP_005690.2:p.Arg29Gly, NP_766632.2:p.Arg29Gly, NP_766630.2:p.Arg29Gly, NP_001034748.1:p.Arg29Gly, NP_001034749.1:p.Arg29Gly, NP_001138529.1:p.Arg29Gly, NP_001138527.1:p.Arg29Gly, XP_016872550.1:p.Arg29Gly, XP_016872548.1:p.Arg29Gly, XP_024304072.1:p.Arg29Gly, XP_024304071.1:p.Arg29Gly, XP_016872552.1:p.Arg29Gly, XP_047282159.1:p.Arg29Gly, XP_047282162.1:p.Arg29Gly, XP_047282163.1:p.Arg29Gly, XP_047282160.1:p.Arg29Gly, XP_047282164.1:p.Arg29Gly, XP_047282161.1:p.Arg29Gly

            6.

            rs1453375992 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              11:72001809 (GRCh38)
              11:71712855 (GRCh37)
              Canonical SPDI:
              NC_000011.10:72001808:C:G
              Gene:
              IL18BP (Varview)
              Functional Consequence:
              missense_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000031/1 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000011.10:g.72001809C>G, NC_000011.9:g.71712855C>G, NG_029021.1:g.7898C>G, NM_005699.3:c.*164C>G, NM_173044.3:c.405C>G, NM_173044.2:c.405C>G, NM_173042.2:c.533C>G, NM_001039659.2:c.533C>G, NM_001039659.1:c.533C>G, NM_001039660.2:c.533C>G, NM_001039660.1:c.533C>G, NM_001145057.1:c.533C>G, NM_001145055.1:c.261C>G, XM_017017061.3:c.533C>G, XM_017017061.2:c.533C>G, XM_017017061.1:c.533C>G, XM_017017059.2:c.533C>G, XM_017017059.1:c.533C>G, XM_024448304.2:c.533C>G, XM_024448304.1:c.533C>G, XM_024448303.2:c.533C>G, XM_024448303.1:c.533C>G, XM_017017063.2:c.533C>G, XM_017017063.1:c.533C>G, XM_047426203.1:c.533C>G, XM_047426206.1:c.533C>G, XM_047426207.1:c.533C>G, XM_047426204.1:c.533C>G, XM_047426208.1:c.533C>G, XM_047426205.1:c.533C>G, NM_173043.1:c.255C>G, NP_766630.2:p.Pro178Arg, NP_001034748.1:p.Pro178Arg, NP_001034749.1:p.Pro178Arg, NP_001138529.1:p.Pro178Arg, XP_016872550.1:p.Pro178Arg, XP_016872548.1:p.Pro178Arg, XP_024304072.1:p.Pro178Arg, XP_024304071.1:p.Pro178Arg, XP_016872552.1:p.Pro178Arg, XP_047282159.1:p.Pro178Arg, XP_047282162.1:p.Pro178Arg, XP_047282163.1:p.Pro178Arg, XP_047282160.1:p.Pro178Arg, XP_047282164.1:p.Pro178Arg, XP_047282161.1:p.Pro178Arg

              7.

              rs1452583469 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CAC>- [Show Flanks]
                Chromosome:
                11:72000433 (GRCh38)
                11:71711479 (GRCh37)
                Canonical SPDI:
                NC_000011.10:72000427:ACCACCAC:ACCAC
                Gene:
                IL18BP (Varview)
                Functional Consequence:
                coding_sequence_variant,inframe_deletion
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ACCAC=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                -=0.000008/2 (TOPMED)
                HGVS:
                NC_000011.10:g.72000430CAC[1], NC_000011.9:g.71711476CAC[1], NG_029021.1:g.6519CAC[1], NM_005699.3:c.108CAC[1], NM_173044.3:c.108CAC[1], NM_173044.2:c.108CAC[1], NM_173042.2:c.108CAC[1], NM_001039659.2:c.108CAC[1], NM_001039659.1:c.108CAC[1], NM_001039660.2:c.108CAC[1], NM_001039660.1:c.108CAC[1], NM_001145057.1:c.108CAC[1], NM_001145055.1:c.108CAC[1], XM_017017061.3:c.108CAC[1], XM_017017061.2:c.108CAC[1], XM_017017061.1:c.108CAC[1], XM_017017059.2:c.108CAC[1], XM_017017059.1:c.108CAC[1], XM_024448304.2:c.108CAC[1], XM_024448304.1:c.108CAC[1], XM_024448303.2:c.108CAC[1], XM_024448303.1:c.108CAC[1], XM_017017063.2:c.108CAC[1], XM_017017063.1:c.108CAC[1], XM_047426203.1:c.108CAC[1], XM_047426206.1:c.108CAC[1], XM_047426207.1:c.108CAC[1], XM_047426204.1:c.108CAC[1], XM_047426208.1:c.108CAC[1], XM_047426205.1:c.108CAC[1], NM_173043.1:c.102CAC[1], NP_005690.2:p.Thr38del, NP_766632.2:p.Thr38del, NP_766630.2:p.Thr38del, NP_001034748.1:p.Thr38del, NP_001034749.1:p.Thr38del, NP_001138529.1:p.Thr38del, NP_001138527.1:p.Thr38del, XP_016872550.1:p.Thr38del, XP_016872548.1:p.Thr38del, XP_024304072.1:p.Thr38del, XP_024304071.1:p.Thr38del, XP_016872552.1:p.Thr38del, XP_047282159.1:p.Thr38del, XP_047282162.1:p.Thr38del, XP_047282163.1:p.Thr38del, XP_047282160.1:p.Thr38del, XP_047282164.1:p.Thr38del, XP_047282161.1:p.Thr38del

                8.

                rs1452503067 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:72001522 (GRCh38)
                  11:71712568 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:72001521:C:T
                  Gene:
                  IL18BP (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1449590695 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:72001435 (GRCh38)
                    11:71712481 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:72001434:G:A
                    Gene:
                    IL18BP (Varview)
                    Functional Consequence:
                    intron_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1448855248 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:72001279 (GRCh38)
                      11:71712325 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:72001278:C:T
                      Gene:
                      IL18BP (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.72001279C>T, NC_000011.9:g.71712325C>T, NG_029021.1:g.7368C>T, NM_005699.3:c.314C>T, NM_173044.3:c.314C>T, NM_173044.2:c.314C>T, NM_173042.2:c.314C>T, NM_001039659.2:c.314C>T, NM_001039659.1:c.314C>T, NM_001039660.2:c.314C>T, NM_001039660.1:c.314C>T, NM_001145057.1:c.314C>T, XM_017017061.3:c.314C>T, XM_017017061.2:c.314C>T, XM_017017061.1:c.314C>T, XM_017017059.2:c.314C>T, XM_017017059.1:c.314C>T, XM_024448304.2:c.314C>T, XM_024448304.1:c.314C>T, XM_024448303.2:c.314C>T, XM_024448303.1:c.314C>T, XM_017017063.2:c.314C>T, XM_017017063.1:c.314C>T, XM_047426203.1:c.314C>T, XM_047426206.1:c.314C>T, XM_047426207.1:c.314C>T, XM_047426204.1:c.314C>T, XM_047426208.1:c.314C>T, XM_047426205.1:c.314C>T, NP_005690.2:p.Ser105Phe, NP_766632.2:p.Ser105Phe, NP_766630.2:p.Ser105Phe, NP_001034748.1:p.Ser105Phe, NP_001034749.1:p.Ser105Phe, NP_001138529.1:p.Ser105Phe, XP_016872550.1:p.Ser105Phe, XP_016872548.1:p.Ser105Phe, XP_024304072.1:p.Ser105Phe, XP_024304071.1:p.Ser105Phe, XP_016872552.1:p.Ser105Phe, XP_047282159.1:p.Ser105Phe, XP_047282162.1:p.Ser105Phe, XP_047282163.1:p.Ser105Phe, XP_047282160.1:p.Ser105Phe, XP_047282164.1:p.Ser105Phe, XP_047282161.1:p.Ser105Phe

                      11.

                      rs1445160789 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:72000433 (GRCh38)
                        11:71711479 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:72000432:C:T
                        Gene:
                        IL18BP (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        HGVS:

                        12.

                        rs1445018089 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:72001529 (GRCh38)
                          11:71712575 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:72001528:C:T
                          Gene:
                          IL18BP (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000011.10:g.72001529C>T, NC_000011.9:g.71712575C>T, NG_029021.1:g.7618C>T, NM_005699.3:c.484C>T, NM_173042.2:c.484C>T, NM_001039659.2:c.484C>T, NM_001039659.1:c.484C>T, NM_001039660.2:c.484C>T, NM_001039660.1:c.484C>T, NM_001145057.1:c.484C>T, XM_017017061.3:c.484C>T, XM_017017061.2:c.484C>T, XM_017017061.1:c.484C>T, XM_017017059.2:c.484C>T, XM_017017059.1:c.484C>T, XM_024448304.2:c.484C>T, XM_024448304.1:c.484C>T, XM_024448303.2:c.484C>T, XM_024448303.1:c.484C>T, XM_017017063.2:c.484C>T, XM_017017063.1:c.484C>T, XM_047426203.1:c.484C>T, XM_047426206.1:c.484C>T, XM_047426207.1:c.484C>T, XM_047426204.1:c.484C>T, XM_047426208.1:c.484C>T, XM_047426205.1:c.484C>T, NP_005690.2:p.His162Tyr, NP_766630.2:p.His162Tyr, NP_001034748.1:p.His162Tyr, NP_001034749.1:p.His162Tyr, NP_001138529.1:p.His162Tyr, XP_016872550.1:p.His162Tyr, XP_016872548.1:p.His162Tyr, XP_024304072.1:p.His162Tyr, XP_024304071.1:p.His162Tyr, XP_016872552.1:p.His162Tyr, XP_047282159.1:p.His162Tyr, XP_047282162.1:p.His162Tyr, XP_047282163.1:p.His162Tyr, XP_047282160.1:p.His162Tyr, XP_047282164.1:p.His162Tyr, XP_047282161.1:p.His162Tyr

                          13.

                          rs1437825463 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:72000368 (GRCh38)
                            11:71711414 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:72000367:G:A
                            Gene:
                            IL18BP (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            HGVS:
                            NC_000011.10:g.72000368G>A, NC_000011.9:g.71711414G>A, NG_029021.1:g.6457G>A, NM_005699.3:c.46G>A, NM_173044.3:c.46G>A, NM_173044.2:c.46G>A, NM_173042.2:c.46G>A, NM_001039659.2:c.46G>A, NM_001039659.1:c.46G>A, NM_001039660.2:c.46G>A, NM_001039660.1:c.46G>A, NM_001145057.1:c.46G>A, NM_001145055.1:c.46G>A, XM_017017061.3:c.46G>A, XM_017017061.2:c.46G>A, XM_017017061.1:c.46G>A, XM_017017059.2:c.46G>A, XM_017017059.1:c.46G>A, XM_024448304.2:c.46G>A, XM_024448304.1:c.46G>A, XM_024448303.2:c.46G>A, XM_024448303.1:c.46G>A, XM_017017063.2:c.46G>A, XM_017017063.1:c.46G>A, XM_047426203.1:c.46G>A, XM_047426206.1:c.46G>A, XM_047426207.1:c.46G>A, XM_047426204.1:c.46G>A, XM_047426208.1:c.46G>A, XM_047426205.1:c.46G>A, NM_173043.1:c.40G>A, NP_005690.2:p.Val16Ile, NP_766632.2:p.Val16Ile, NP_766630.2:p.Val16Ile, NP_001034748.1:p.Val16Ile, NP_001034749.1:p.Val16Ile, NP_001138529.1:p.Val16Ile, NP_001138527.1:p.Val16Ile, XP_016872550.1:p.Val16Ile, XP_016872548.1:p.Val16Ile, XP_024304072.1:p.Val16Ile, XP_024304071.1:p.Val16Ile, XP_016872552.1:p.Val16Ile, XP_047282159.1:p.Val16Ile, XP_047282162.1:p.Val16Ile, XP_047282163.1:p.Val16Ile, XP_047282160.1:p.Val16Ile, XP_047282164.1:p.Val16Ile, XP_047282161.1:p.Val16Ile

                            14.

                            rs1431704430 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              11:72000518 (GRCh38)
                              11:71711564 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:72000517:G:A,NC_000011.10:72000517:G:C
                              Gene:
                              IL18BP (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000034/1 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000011.10:g.72000518G>A, NC_000011.10:g.72000518G>C, NC_000011.9:g.71711564G>A, NC_000011.9:g.71711564G>C, NG_029021.1:g.6607G>A, NG_029021.1:g.6607G>C, NM_005699.3:c.196G>A, NM_005699.3:c.196G>C, NM_173044.3:c.196G>A, NM_173044.3:c.196G>C, NM_173044.2:c.196G>A, NM_173044.2:c.196G>C, NM_173042.2:c.196G>A, NM_173042.2:c.196G>C, NM_001039659.2:c.196G>A, NM_001039659.2:c.196G>C, NM_001039659.1:c.196G>A, NM_001039659.1:c.196G>C, NM_001039660.2:c.196G>A, NM_001039660.2:c.196G>C, NM_001039660.1:c.196G>A, NM_001039660.1:c.196G>C, NM_001145057.1:c.196G>A, NM_001145057.1:c.196G>C, NM_001145055.1:c.196G>A, NM_001145055.1:c.196G>C, XM_017017061.3:c.196G>A, XM_017017061.3:c.196G>C, XM_017017061.2:c.196G>A, XM_017017061.2:c.196G>C, XM_017017061.1:c.196G>A, XM_017017061.1:c.196G>C, XM_017017059.2:c.196G>A, XM_017017059.2:c.196G>C, XM_017017059.1:c.196G>A, XM_017017059.1:c.196G>C, XM_024448304.2:c.196G>A, XM_024448304.2:c.196G>C, XM_024448304.1:c.196G>A, XM_024448304.1:c.196G>C, XM_024448303.2:c.196G>A, XM_024448303.2:c.196G>C, XM_024448303.1:c.196G>A, XM_024448303.1:c.196G>C, XM_017017063.2:c.196G>A, XM_017017063.2:c.196G>C, XM_017017063.1:c.196G>A, XM_017017063.1:c.196G>C, XM_047426203.1:c.196G>A, XM_047426203.1:c.196G>C, XM_047426206.1:c.196G>A, XM_047426206.1:c.196G>C, XM_047426207.1:c.196G>A, XM_047426207.1:c.196G>C, XM_047426204.1:c.196G>A, XM_047426204.1:c.196G>C, XM_047426208.1:c.196G>A, XM_047426208.1:c.196G>C, XM_047426205.1:c.196G>A, XM_047426205.1:c.196G>C, NM_173043.1:c.190G>A, NM_173043.1:c.190G>C, NP_005690.2:p.Ala66Thr, NP_005690.2:p.Ala66Pro, NP_766632.2:p.Ala66Thr, NP_766632.2:p.Ala66Pro, NP_766630.2:p.Ala66Thr, NP_766630.2:p.Ala66Pro, NP_001034748.1:p.Ala66Thr, NP_001034748.1:p.Ala66Pro, NP_001034749.1:p.Ala66Thr, NP_001034749.1:p.Ala66Pro, NP_001138529.1:p.Ala66Thr, NP_001138529.1:p.Ala66Pro, NP_001138527.1:p.Ala66Thr, NP_001138527.1:p.Ala66Pro, XP_016872550.1:p.Ala66Thr, XP_016872550.1:p.Ala66Pro, XP_016872548.1:p.Ala66Thr, XP_016872548.1:p.Ala66Pro, XP_024304072.1:p.Ala66Thr, XP_024304072.1:p.Ala66Pro, XP_024304071.1:p.Ala66Thr, XP_024304071.1:p.Ala66Pro, XP_016872552.1:p.Ala66Thr, XP_016872552.1:p.Ala66Pro, XP_047282159.1:p.Ala66Thr, XP_047282159.1:p.Ala66Pro, XP_047282162.1:p.Ala66Thr, XP_047282162.1:p.Ala66Pro, XP_047282163.1:p.Ala66Thr, XP_047282163.1:p.Ala66Pro, XP_047282160.1:p.Ala66Thr, XP_047282160.1:p.Ala66Pro, XP_047282164.1:p.Ala66Thr, XP_047282164.1:p.Ala66Pro, XP_047282161.1:p.Ala66Thr, XP_047282161.1:p.Ala66Pro

                              15.

                              rs1429674126 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:72001796 (GRCh38)
                                11:71712842 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:72001795:G:A
                                Gene:
                                IL18BP (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                NC_000011.10:g.72001796G>A, NC_000011.9:g.71712842G>A, NG_029021.1:g.7885G>A, NM_005699.3:c.*151G>A, NM_173044.3:c.392G>A, NM_173044.2:c.392G>A, NM_173042.2:c.520G>A, NM_001039659.2:c.520G>A, NM_001039659.1:c.520G>A, NM_001039660.2:c.520G>A, NM_001039660.1:c.520G>A, NM_001145057.1:c.520G>A, NM_001145055.1:c.248G>A, XM_017017061.3:c.520G>A, XM_017017061.2:c.520G>A, XM_017017061.1:c.520G>A, XM_017017059.2:c.520G>A, XM_017017059.1:c.520G>A, XM_024448304.2:c.520G>A, XM_024448304.1:c.520G>A, XM_024448303.2:c.520G>A, XM_024448303.1:c.520G>A, XM_017017063.2:c.520G>A, XM_017017063.1:c.520G>A, XM_047426203.1:c.520G>A, XM_047426206.1:c.520G>A, XM_047426207.1:c.520G>A, XM_047426204.1:c.520G>A, XM_047426208.1:c.520G>A, XM_047426205.1:c.520G>A, NM_173043.1:c.242G>A, NP_766632.2:p.Gly131Asp, NP_766630.2:p.Ala174Thr, NP_001034748.1:p.Ala174Thr, NP_001034749.1:p.Ala174Thr, NP_001138529.1:p.Ala174Thr, NP_001138527.1:p.Gly83Asp, XP_016872550.1:p.Ala174Thr, XP_016872548.1:p.Ala174Thr, XP_024304072.1:p.Ala174Thr, XP_024304071.1:p.Ala174Thr, XP_016872552.1:p.Ala174Thr, XP_047282159.1:p.Ala174Thr, XP_047282162.1:p.Ala174Thr, XP_047282163.1:p.Ala174Thr, XP_047282160.1:p.Ala174Thr, XP_047282164.1:p.Ala174Thr, XP_047282161.1:p.Ala174Thr

                                16.

                                rs1425429004 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  11:72001516 (GRCh38)
                                  11:71712562 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:72001515:G:A,NC_000011.10:72001515:G:C
                                  Gene:
                                  IL18BP (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,synonymous_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.72001516G>A, NC_000011.10:g.72001516G>C, NC_000011.9:g.71712562G>A, NC_000011.9:g.71712562G>C, NG_029021.1:g.7605G>A, NG_029021.1:g.7605G>C, NM_005699.3:c.471G>A, NM_005699.3:c.471G>C, NM_173042.2:c.471G>A, NM_173042.2:c.471G>C, NM_001039659.2:c.471G>A, NM_001039659.2:c.471G>C, NM_001039659.1:c.471G>A, NM_001039659.1:c.471G>C, NM_001039660.2:c.471G>A, NM_001039660.2:c.471G>C, NM_001039660.1:c.471G>A, NM_001039660.1:c.471G>C, NM_001145057.1:c.471G>A, NM_001145057.1:c.471G>C, XM_017017061.3:c.471G>A, XM_017017061.3:c.471G>C, XM_017017061.2:c.471G>A, XM_017017061.2:c.471G>C, XM_017017061.1:c.471G>A, XM_017017061.1:c.471G>C, XM_017017059.2:c.471G>A, XM_017017059.2:c.471G>C, XM_017017059.1:c.471G>A, XM_017017059.1:c.471G>C, XM_024448304.2:c.471G>A, XM_024448304.2:c.471G>C, XM_024448304.1:c.471G>A, XM_024448304.1:c.471G>C, XM_024448303.2:c.471G>A, XM_024448303.2:c.471G>C, XM_024448303.1:c.471G>A, XM_024448303.1:c.471G>C, XM_017017063.2:c.471G>A, XM_017017063.2:c.471G>C, XM_017017063.1:c.471G>A, XM_017017063.1:c.471G>C, XM_047426203.1:c.471G>A, XM_047426203.1:c.471G>C, XM_047426206.1:c.471G>A, XM_047426206.1:c.471G>C, XM_047426207.1:c.471G>A, XM_047426207.1:c.471G>C, XM_047426204.1:c.471G>A, XM_047426204.1:c.471G>C, XM_047426208.1:c.471G>A, XM_047426208.1:c.471G>C, XM_047426205.1:c.471G>A, XM_047426205.1:c.471G>C, NP_005690.2:p.Gln157His, NP_766630.2:p.Gln157His, NP_001034748.1:p.Gln157His, NP_001034749.1:p.Gln157His, NP_001138529.1:p.Gln157His, XP_016872550.1:p.Gln157His, XP_016872548.1:p.Gln157His, XP_024304072.1:p.Gln157His, XP_024304071.1:p.Gln157His, XP_016872552.1:p.Gln157His, XP_047282159.1:p.Gln157His, XP_047282162.1:p.Gln157His, XP_047282163.1:p.Gln157His, XP_047282160.1:p.Gln157His, XP_047282164.1:p.Gln157His, XP_047282161.1:p.Gln157His

                                  17.

                                  rs1423995334 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    11:72001511 (GRCh38)
                                    11:71712557 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:72001510:G:A,NC_000011.10:72001510:G:C
                                    Gene:
                                    IL18BP (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000011.10:g.72001511G>A, NC_000011.10:g.72001511G>C, NC_000011.9:g.71712557G>A, NC_000011.9:g.71712557G>C, NG_029021.1:g.7600G>A, NG_029021.1:g.7600G>C, NM_005699.3:c.466G>A, NM_005699.3:c.466G>C, NM_173042.2:c.466G>A, NM_173042.2:c.466G>C, NM_001039659.2:c.466G>A, NM_001039659.2:c.466G>C, NM_001039659.1:c.466G>A, NM_001039659.1:c.466G>C, NM_001039660.2:c.466G>A, NM_001039660.2:c.466G>C, NM_001039660.1:c.466G>A, NM_001039660.1:c.466G>C, NM_001145057.1:c.466G>A, NM_001145057.1:c.466G>C, XM_017017061.3:c.466G>A, XM_017017061.3:c.466G>C, XM_017017061.2:c.466G>A, XM_017017061.2:c.466G>C, XM_017017061.1:c.466G>A, XM_017017061.1:c.466G>C, XM_017017059.2:c.466G>A, XM_017017059.2:c.466G>C, XM_017017059.1:c.466G>A, XM_017017059.1:c.466G>C, XM_024448304.2:c.466G>A, XM_024448304.2:c.466G>C, XM_024448304.1:c.466G>A, XM_024448304.1:c.466G>C, XM_024448303.2:c.466G>A, XM_024448303.2:c.466G>C, XM_024448303.1:c.466G>A, XM_024448303.1:c.466G>C, XM_017017063.2:c.466G>A, XM_017017063.2:c.466G>C, XM_017017063.1:c.466G>A, XM_017017063.1:c.466G>C, XM_047426203.1:c.466G>A, XM_047426203.1:c.466G>C, XM_047426206.1:c.466G>A, XM_047426206.1:c.466G>C, XM_047426207.1:c.466G>A, XM_047426207.1:c.466G>C, XM_047426204.1:c.466G>A, XM_047426204.1:c.466G>C, XM_047426208.1:c.466G>A, XM_047426208.1:c.466G>C, XM_047426205.1:c.466G>A, XM_047426205.1:c.466G>C, NP_005690.2:p.Glu156Lys, NP_005690.2:p.Glu156Gln, NP_766630.2:p.Glu156Lys, NP_766630.2:p.Glu156Gln, NP_001034748.1:p.Glu156Lys, NP_001034748.1:p.Glu156Gln, NP_001034749.1:p.Glu156Lys, NP_001034749.1:p.Glu156Gln, NP_001138529.1:p.Glu156Lys, NP_001138529.1:p.Glu156Gln, XP_016872550.1:p.Glu156Lys, XP_016872550.1:p.Glu156Gln, XP_016872548.1:p.Glu156Lys, XP_016872548.1:p.Glu156Gln, XP_024304072.1:p.Glu156Lys, XP_024304072.1:p.Glu156Gln, XP_024304071.1:p.Glu156Lys, XP_024304071.1:p.Glu156Gln, XP_016872552.1:p.Glu156Lys, XP_016872552.1:p.Glu156Gln, XP_047282159.1:p.Glu156Lys, XP_047282159.1:p.Glu156Gln, XP_047282162.1:p.Glu156Lys, XP_047282162.1:p.Glu156Gln, XP_047282163.1:p.Glu156Lys, XP_047282163.1:p.Glu156Gln, XP_047282160.1:p.Glu156Lys, XP_047282160.1:p.Glu156Gln, XP_047282164.1:p.Glu156Lys, XP_047282164.1:p.Glu156Gln, XP_047282161.1:p.Glu156Lys, XP_047282161.1:p.Glu156Gln

                                    18.

                                    rs1418680167 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:72001851 (GRCh38)
                                      11:71712897 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:72001850:A:G
                                      Gene:
                                      IL18BP (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,3_prime_UTR_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.72001851A>G, NC_000011.9:g.71712897A>G, NG_029021.1:g.7940A>G, NM_005699.3:c.*206A>G, NM_173044.3:c.447A>G, NM_173044.2:c.447A>G, NM_173042.2:c.575A>G, NM_001039659.2:c.575A>G, NM_001039659.1:c.575A>G, NM_001039660.2:c.575A>G, NM_001039660.1:c.575A>G, NM_001145057.1:c.575A>G, NM_001145055.1:c.303A>G, XM_017017061.3:c.575A>G, XM_017017061.2:c.575A>G, XM_017017061.1:c.575A>G, XM_017017059.2:c.575A>G, XM_017017059.1:c.575A>G, XM_024448304.2:c.575A>G, XM_024448304.1:c.575A>G, XM_024448303.2:c.575A>G, XM_024448303.1:c.575A>G, XM_017017063.2:c.575A>G, XM_017017063.1:c.575A>G, XM_047426203.1:c.575A>G, XM_047426206.1:c.575A>G, XM_047426207.1:c.575A>G, XM_047426204.1:c.575A>G, XM_047426208.1:c.575A>G, XM_047426205.1:c.575A>G, NM_173043.1:c.297A>G, NP_766630.2:p.Gln192Arg, NP_001034748.1:p.Gln192Arg, NP_001034749.1:p.Gln192Arg, NP_001138529.1:p.Gln192Arg, XP_016872550.1:p.Gln192Arg, XP_016872548.1:p.Gln192Arg, XP_024304072.1:p.Gln192Arg, XP_024304071.1:p.Gln192Arg, XP_016872552.1:p.Gln192Arg, XP_047282159.1:p.Gln192Arg, XP_047282162.1:p.Gln192Arg, XP_047282163.1:p.Gln192Arg, XP_047282160.1:p.Gln192Arg, XP_047282164.1:p.Gln192Arg, XP_047282161.1:p.Gln192Arg

                                      19.

                                      rs1410237519 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        11:72000427 (GRCh38)
                                        11:71711473 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:72000426:G:C
                                        Gene:
                                        IL18BP (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        HGVS:
                                        NC_000011.10:g.72000427G>C, NC_000011.9:g.71711473G>C, NG_029021.1:g.6516G>C, NM_005699.3:c.105G>C, NM_173044.3:c.105G>C, NM_173044.2:c.105G>C, NM_173042.2:c.105G>C, NM_001039659.2:c.105G>C, NM_001039659.1:c.105G>C, NM_001039660.2:c.105G>C, NM_001039660.1:c.105G>C, NM_001145057.1:c.105G>C, NM_001145055.1:c.105G>C, XM_017017061.3:c.105G>C, XM_017017061.2:c.105G>C, XM_017017061.1:c.105G>C, XM_017017059.2:c.105G>C, XM_017017059.1:c.105G>C, XM_024448304.2:c.105G>C, XM_024448304.1:c.105G>C, XM_024448303.2:c.105G>C, XM_024448303.1:c.105G>C, XM_017017063.2:c.105G>C, XM_017017063.1:c.105G>C, XM_047426203.1:c.105G>C, XM_047426206.1:c.105G>C, XM_047426207.1:c.105G>C, XM_047426204.1:c.105G>C, XM_047426208.1:c.105G>C, XM_047426205.1:c.105G>C, NM_173043.1:c.99G>C, NP_005690.2:p.Gln35His, NP_766632.2:p.Gln35His, NP_766630.2:p.Gln35His, NP_001034748.1:p.Gln35His, NP_001034749.1:p.Gln35His, NP_001138529.1:p.Gln35His, NP_001138527.1:p.Gln35His, XP_016872550.1:p.Gln35His, XP_016872548.1:p.Gln35His, XP_024304072.1:p.Gln35His, XP_024304071.1:p.Gln35His, XP_016872552.1:p.Gln35His, XP_047282159.1:p.Gln35His, XP_047282162.1:p.Gln35His, XP_047282163.1:p.Gln35His, XP_047282160.1:p.Gln35His, XP_047282164.1:p.Gln35His, XP_047282161.1:p.Gln35His

                                        20.

                                        rs1408697192 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          11:72000473 (GRCh38)
                                          11:71711519 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:72000472:T:C
                                          Gene:
                                          IL18BP (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000224/1 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000223/1 (Estonian)
                                          HGVS:
                                          NC_000011.10:g.72000473T>C, NC_000011.9:g.71711519T>C, NG_029021.1:g.6562T>C, NM_005699.3:c.151T>C, NM_173044.3:c.151T>C, NM_173044.2:c.151T>C, NM_173042.2:c.151T>C, NM_001039659.2:c.151T>C, NM_001039659.1:c.151T>C, NM_001039660.2:c.151T>C, NM_001039660.1:c.151T>C, NM_001145057.1:c.151T>C, NM_001145055.1:c.151T>C, XM_017017061.3:c.151T>C, XM_017017061.2:c.151T>C, XM_017017061.1:c.151T>C, XM_017017059.2:c.151T>C, XM_017017059.1:c.151T>C, XM_024448304.2:c.151T>C, XM_024448304.1:c.151T>C, XM_024448303.2:c.151T>C, XM_024448303.1:c.151T>C, XM_017017063.2:c.151T>C, XM_017017063.1:c.151T>C, XM_047426203.1:c.151T>C, XM_047426206.1:c.151T>C, XM_047426207.1:c.151T>C, XM_047426204.1:c.151T>C, XM_047426208.1:c.151T>C, XM_047426205.1:c.151T>C, NM_173043.1:c.145T>C, NP_005690.2:p.Cys51Arg, NP_766632.2:p.Cys51Arg, NP_766630.2:p.Cys51Arg, NP_001034748.1:p.Cys51Arg, NP_001034749.1:p.Cys51Arg, NP_001138529.1:p.Cys51Arg, NP_001138527.1:p.Cys51Arg, XP_016872550.1:p.Cys51Arg, XP_016872548.1:p.Cys51Arg, XP_024304072.1:p.Cys51Arg, XP_024304071.1:p.Cys51Arg, XP_016872552.1:p.Cys51Arg, XP_047282159.1:p.Cys51Arg, XP_047282162.1:p.Cys51Arg, XP_047282163.1:p.Cys51Arg, XP_047282160.1:p.Cys51Arg, XP_047282164.1:p.Cys51Arg, XP_047282161.1:p.Cys51Arg

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