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Items: 1 to 20 of 486

1.

rs1486275339 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:72002158 (GRCh38)
    11:71713204 (GRCh37)
    Canonical SPDI:
    NC_000011.10:72002157:T:C
    Gene:
    IL18BP (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000008/2 (TOPMED)
    HGVS:

    2.

    rs1484577212 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      11:72002509 (GRCh38)
      11:71713555 (GRCh37)
      Canonical SPDI:
      NC_000011.10:72002507:ATA:A
      Gene:
      NUMA1 (Varview), IL18BP (Varview)
      Functional Consequence:
      downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      -=0./0 (GnomAD)
      -=0.000004/1 (TOPMED)
      HGVS:
      NC_000011.10:g.72002509_72002510del, NC_000011.9:g.71713555_71713556del, NG_029021.1:g.8598_8599del, NM_005699.3:c.*864_*865del, NM_173044.3:c.*613_*614del, NM_173044.2:c.*613_*614del, NM_173042.2:c.*648_*649del, NM_001039659.2:c.*648_*649del, NM_001039659.1:c.*648_*649del, NM_001039660.2:c.*648_*649del, NM_001039660.1:c.*648_*649del, NM_001145057.1:c.*648_*649del, NM_001145055.1:c.*613_*614del, XM_017017061.3:c.*648_*649del, XM_017017061.2:c.*648_*649del, XM_017017061.1:c.*648_*649del, XM_017017059.2:c.*648_*649del, XM_017017059.1:c.*648_*649del, XM_024448304.2:c.*648_*649del, XM_024448304.1:c.*648_*649del, XM_024448303.2:c.*648_*649del, XM_024448303.1:c.*648_*649del, XM_017017063.2:c.*648_*649del, XM_017017063.1:c.*648_*649del, XM_047426203.1:c.*648_*649del, XM_047426206.1:c.*648_*649del, XM_047426207.1:c.*648_*649del, XM_047426204.1:c.*648_*649del, XM_047426208.1:c.*648_*649del, XM_047426205.1:c.*648_*649del, NM_173043.1:c.*613_*614del

      3.

      rs1482566965 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        11:72001912 (GRCh38)
        11:71712959 (GRCh37)
        Canonical SPDI:
        NC_000011.10:72001912:A:AA
        Gene:
        IL18BP (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AA=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1480904887 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          11:72002016 (GRCh38)
          11:71713062 (GRCh37)
          Canonical SPDI:
          NC_000011.10:72002015:A:C
          Gene:
          IL18BP (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000014/2 (GnomAD)
          C=0.001667/1 (NorthernSweden)
          HGVS:

          5.

          rs1479612397 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            11:72001920 (GRCh38)
            11:71712966 (GRCh37)
            Canonical SPDI:
            NC_000011.10:72001919:T:C
            Gene:
            IL18BP (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            C=0.000008/2 (GnomAD_exomes)
            HGVS:

            6.

            rs1479499690 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:72001869 (GRCh38)
              11:71712915 (GRCh37)
              Canonical SPDI:
              NC_000011.10:72001868:C:T
              Gene:
              IL18BP (Varview)
              Functional Consequence:
              3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (GnomAD_exomes)
              T=0.000008/2 (TOPMED)
              HGVS:

              7.

              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

                8.

                rs1478740749 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:72001929 (GRCh38)
                  11:71712975 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:72001928:T:C
                  Gene:
                  IL18BP (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1477390391 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    11:72002197 (GRCh38)
                    11:71713243 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:72002196:T:A
                    Gene:
                    IL18BP (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1475505583 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:72002060 (GRCh38)
                      11:71713106 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:72002059:T:C
                      Gene:
                      IL18BP (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1475361416 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:72002303 (GRCh38)
                        11:71713349 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:72002302:G:A
                        Gene:
                        IL18BP (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        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

                          13.

                          rs1464977684 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            11:72002457 (GRCh38)
                            11:71713503 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:72002456:G:C
                            Gene:
                            NUMA1 (Varview), IL18BP (Varview)
                            Functional Consequence:
                            500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1464888115 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TCTC>- [Show Flanks]
                              Chromosome:
                              11:72002083 (GRCh38)
                              11:71713129 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:72002078:TCTCTCTC:TCTC
                              Gene:
                              IL18BP (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TCTCTCTC=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000011.10:g.72002079TC[2], NC_000011.9:g.71713125TC[2], NG_029021.1:g.8168TC[2], NM_005699.3:c.*434TC[2], NM_173044.3:c.*183TC[2], NM_173044.2:c.*183TC[2], NM_173042.2:c.*218TC[2], NM_001039659.2:c.*218TC[2], NM_001039659.1:c.*218TC[2], NM_001039660.2:c.*218TC[2], NM_001039660.1:c.*218TC[2], NM_001145057.1:c.*218TC[2], NM_001145055.1:c.*183TC[2], XM_017017061.3:c.*218TC[2], XM_017017061.2:c.*218TC[2], XM_017017061.1:c.*218TC[2], XM_017017059.2:c.*218TC[2], XM_017017059.1:c.*218TC[2], XM_024448304.2:c.*218TC[2], XM_024448304.1:c.*218TC[2], XM_024448303.2:c.*218TC[2], XM_024448303.1:c.*218TC[2], XM_017017063.2:c.*218TC[2], XM_017017063.1:c.*218TC[2], XM_047426203.1:c.*218TC[2], XM_047426206.1:c.*218TC[2], XM_047426207.1:c.*218TC[2], XM_047426204.1:c.*218TC[2], XM_047426208.1:c.*218TC[2], XM_047426205.1:c.*218TC[2], NM_173043.1:c.*183TC[2]

                              15.

                              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

                                16.

                                rs1456914410 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:72002295 (GRCh38)
                                  11:71713341 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:72002294:C:T
                                  Gene:
                                  IL18BP (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  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

                                    18.

                                    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

                                      19.

                                      rs1455810724 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        11:72002051 (GRCh38)
                                        11:71713097 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:72002050:T:G
                                        Gene:
                                        IL18BP (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000029/4 (GnomAD)
                                        HGVS:

                                        20.

                                        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

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