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Items: 1 to 20 of 474

1.

rs1490044452 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    2:102164856 (GRCh38)
    2:102781316 (GRCh37)
    Canonical SPDI:
    NC_000002.12:102164855:A:G
    Gene:
    IL1R1 (Varview)
    Functional Consequence:
    synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000002.12:g.102164856A>G, NC_000002.11:g.102781316A>G, XM_005263934.5:c.144A>G, XM_005263934.4:c.144A>G, XM_005263934.3:c.144A>G, XM_005263934.2:c.144A>G, XM_005263934.1:c.144A>G, NM_000877.4:c.144A>G, NM_000877.3:c.144A>G, NM_000877.2:c.144A>G, XM_005263930.4:c.144A>G, XM_005263930.3:c.144A>G, XM_005263930.2:c.144A>G, XM_005263930.1:c.144A>G, XM_011511118.3:c.144A>G, XM_011511118.2:c.144A>G, XM_011511118.1:c.144A>G, XM_011511115.3:c.144A>G, XM_011511115.2:c.144A>G, XM_011511115.1:c.144A>G, NM_001320980.2:c.144A>G, NM_001320980.1:c.144A>G, NM_001320982.2:c.144A>G, NM_001320982.1:c.144A>G, NM_001320978.2:c.144A>G, NM_001320978.1:c.144A>G, NM_001320981.2:c.144A>G, NM_001320981.1:c.144A>G, XM_011511116.2:c.144A>G, XM_011511116.1:c.144A>G, NM_001288706.2:c.144A>G, NM_001288706.1:c.144A>G, NM_001320986.2:c.144A>G, NM_001320986.1:c.144A>G, XM_047444180.1:c.-289A>G, XM_047444179.1:c.144A>G, XM_047444178.1:c.144A>G, XM_047444181.1:c.-289A>G, XM_047444183.1:c.-289A>G, XM_047444177.1:c.144A>G, XM_047444176.1:c.144A>G, XM_047444182.1:c.-289A>G, NM_001320983.1:c.-289A>G, NM_001320985.1:c.-393A>G, NM_001320984.1:c.-216A>G

    2.

    rs1488422098 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      2:102174609 (GRCh38)
      2:102791069 (GRCh37)
      Canonical SPDI:
      NC_000002.12:102174608:G:A
      Gene:
      IL1R1 (Varview), IL1R1-AS1 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000015/4 (TOPMED)
      HGVS:
      NC_000002.12:g.102174609G>A, NC_000002.11:g.102791069G>A, XM_005263934.5:c.1014G>A, XM_005263934.4:c.1014G>A, XM_005263934.3:c.1014G>A, XM_005263934.2:c.1014G>A, XM_005263934.1:c.1014G>A, NM_000877.4:c.1014G>A, NM_000877.3:c.1014G>A, NM_000877.2:c.1014G>A, XM_005263930.4:c.1014G>A, XM_005263930.3:c.1014G>A, XM_005263930.2:c.1014G>A, XM_005263930.1:c.1014G>A, XM_011511118.3:c.1014G>A, XM_011511118.2:c.1014G>A, XM_011511118.1:c.1014G>A, XM_011511115.3:c.1014G>A, XM_011511115.2:c.1014G>A, XM_011511115.1:c.1014G>A, NM_001320980.2:c.1014G>A, NM_001320980.1:c.1014G>A, NM_001320982.2:c.1014G>A, NM_001320982.1:c.1014G>A, NM_001320978.2:c.1014G>A, NM_001320978.1:c.1014G>A, NM_001320981.2:c.1014G>A, NM_001320981.1:c.1014G>A, XM_011511116.2:c.1014G>A, XM_011511116.1:c.1014G>A, NM_001288706.2:c.1014G>A, NM_001288706.1:c.1014G>A, XM_047444180.1:c.582G>A, XM_047444179.1:c.1014G>A, XM_047444178.1:c.1014G>A, XM_047444181.1:c.582G>A, XM_047444183.1:c.582G>A, XM_047444177.1:c.1014G>A, XM_047444176.1:c.1014G>A, XM_047444182.1:c.582G>A, NM_001320983.1:c.582G>A, NM_001320985.1:c.309G>A, NM_001320984.1:c.465G>A, XP_005263991.1:p.Met338Ile, NP_000868.1:p.Met338Ile, XP_005263987.1:p.Met338Ile, XP_011509420.1:p.Met338Ile, XP_011509417.1:p.Met338Ile, NP_001307909.1:p.Met338Ile, NP_001307911.1:p.Met338Ile, NP_001307907.1:p.Met338Ile, NP_001307910.1:p.Met338Ile, XP_011509418.1:p.Met338Ile, NP_001275635.1:p.Met338Ile, XP_047300136.1:p.Met194Ile, XP_047300135.1:p.Met338Ile, XP_047300134.1:p.Met338Ile, XP_047300137.1:p.Met194Ile, XP_047300139.1:p.Met194Ile, XP_047300133.1:p.Met338Ile, XP_047300132.1:p.Met338Ile, XP_047300138.1:p.Met194Ile, NP_001307912.1:p.Met194Ile, NP_001307914.1:p.Met103Ile, NP_001307913.1:p.Met155Ile

      3.

      rs1488308636 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        2:102165001 (GRCh38)
        2:102781461 (GRCh37)
        Canonical SPDI:
        NC_000002.12:102165000:G:A,NC_000002.12:102165000:G:T
        Gene:
        IL1R1 (Varview)
        Functional Consequence:
        missense_variant,5_prime_UTR_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000011/3 (TOPMED)
        A=0.000012/3 (GnomAD_exomes)
        A=0.000014/2 (GnomAD)
        HGVS:
        NC_000002.12:g.102165001G>A, NC_000002.12:g.102165001G>T, NC_000002.11:g.102781461G>A, NC_000002.11:g.102781461G>T, XM_005263934.5:c.289G>A, XM_005263934.5:c.289G>T, XM_005263934.4:c.289G>A, XM_005263934.4:c.289G>T, XM_005263934.3:c.289G>A, XM_005263934.3:c.289G>T, XM_005263934.2:c.289G>A, XM_005263934.2:c.289G>T, XM_005263934.1:c.289G>A, XM_005263934.1:c.289G>T, NM_000877.4:c.289G>A, NM_000877.4:c.289G>T, NM_000877.3:c.289G>A, NM_000877.3:c.289G>T, NM_000877.2:c.289G>A, NM_000877.2:c.289G>T, XM_005263930.4:c.289G>A, XM_005263930.4:c.289G>T, XM_005263930.3:c.289G>A, XM_005263930.3:c.289G>T, XM_005263930.2:c.289G>A, XM_005263930.2:c.289G>T, XM_005263930.1:c.289G>A, XM_005263930.1:c.289G>T, XM_011511118.3:c.289G>A, XM_011511118.3:c.289G>T, XM_011511118.2:c.289G>A, XM_011511118.2:c.289G>T, XM_011511118.1:c.289G>A, XM_011511118.1:c.289G>T, XM_011511115.3:c.289G>A, XM_011511115.3:c.289G>T, XM_011511115.2:c.289G>A, XM_011511115.2:c.289G>T, XM_011511115.1:c.289G>A, XM_011511115.1:c.289G>T, NM_001320980.2:c.289G>A, NM_001320980.2:c.289G>T, NM_001320980.1:c.289G>A, NM_001320980.1:c.289G>T, NM_001320982.2:c.289G>A, NM_001320982.2:c.289G>T, NM_001320982.1:c.289G>A, NM_001320982.1:c.289G>T, NM_001320978.2:c.289G>A, NM_001320978.2:c.289G>T, NM_001320978.1:c.289G>A, NM_001320978.1:c.289G>T, NM_001320981.2:c.289G>A, NM_001320981.2:c.289G>T, NM_001320981.1:c.289G>A, NM_001320981.1:c.289G>T, XM_011511116.2:c.289G>A, XM_011511116.2:c.289G>T, XM_011511116.1:c.289G>A, XM_011511116.1:c.289G>T, NM_001288706.2:c.289G>A, NM_001288706.2:c.289G>T, NM_001288706.1:c.289G>A, NM_001288706.1:c.289G>T, NM_001320986.2:c.289G>A, NM_001320986.2:c.289G>T, NM_001320986.1:c.289G>A, NM_001320986.1:c.289G>T, XM_047444180.1:c.-144G>A, XM_047444180.1:c.-144G>T, XM_047444179.1:c.289G>A, XM_047444179.1:c.289G>T, XM_047444178.1:c.289G>A, XM_047444178.1:c.289G>T, XM_047444181.1:c.-144G>A, XM_047444181.1:c.-144G>T, XM_047444183.1:c.-144G>A, XM_047444183.1:c.-144G>T, XM_047444177.1:c.289G>A, XM_047444177.1:c.289G>T, XM_047444176.1:c.289G>A, XM_047444176.1:c.289G>T, XM_047444182.1:c.-144G>A, XM_047444182.1:c.-144G>T, NM_001320983.1:c.-144G>A, NM_001320983.1:c.-144G>T, NM_001320985.1:c.-248G>A, NM_001320985.1:c.-248G>T, NM_001320984.1:c.-71G>A, NM_001320984.1:c.-71G>T, XP_005263991.1:p.Val97Met, XP_005263991.1:p.Val97Leu, NP_000868.1:p.Val97Met, NP_000868.1:p.Val97Leu, XP_005263987.1:p.Val97Met, XP_005263987.1:p.Val97Leu, XP_011509420.1:p.Val97Met, XP_011509420.1:p.Val97Leu, XP_011509417.1:p.Val97Met, XP_011509417.1:p.Val97Leu, NP_001307909.1:p.Val97Met, NP_001307909.1:p.Val97Leu, NP_001307911.1:p.Val97Met, NP_001307911.1:p.Val97Leu, NP_001307907.1:p.Val97Met, NP_001307907.1:p.Val97Leu, NP_001307910.1:p.Val97Met, NP_001307910.1:p.Val97Leu, XP_011509418.1:p.Val97Met, XP_011509418.1:p.Val97Leu, NP_001275635.1:p.Val97Met, NP_001275635.1:p.Val97Leu, NP_001307915.1:p.Val97Met, NP_001307915.1:p.Val97Leu, XP_047300135.1:p.Val97Met, XP_047300135.1:p.Val97Leu, XP_047300134.1:p.Val97Met, XP_047300134.1:p.Val97Leu, XP_047300133.1:p.Val97Met, XP_047300133.1:p.Val97Leu, XP_047300132.1:p.Val97Met, XP_047300132.1:p.Val97Leu

        4.

        rs1484772280 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          2:102176430 (GRCh38)
          2:102792890 (GRCh37)
          Canonical SPDI:
          NC_000002.12:102176429:T:C
          Gene:
          IL1R1 (Varview), IL1R1-AS1 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          HGVS:
          NC_000002.12:g.102176430T>C, NC_000002.11:g.102792890T>C, XM_005263934.5:c.1381T>C, XM_005263934.4:c.1381T>C, XM_005263934.3:c.1381T>C, XM_005263934.2:c.1381T>C, XM_005263934.1:c.1381T>C, NM_000877.4:c.1381T>C, NM_000877.3:c.1381T>C, NM_000877.2:c.1381T>C, XM_005263930.4:c.1381T>C, XM_005263930.3:c.1381T>C, XM_005263930.2:c.1381T>C, XM_005263930.1:c.1381T>C, XM_011511118.3:c.1381T>C, XM_011511118.2:c.1381T>C, XM_011511118.1:c.1381T>C, XM_011511115.3:c.1381T>C, XM_011511115.2:c.1381T>C, XM_011511115.1:c.1381T>C, NM_001320980.2:c.1381T>C, NM_001320980.1:c.1381T>C, NM_001320982.2:c.1381T>C, NM_001320982.1:c.1381T>C, NM_001320978.2:c.1381T>C, NM_001320978.1:c.1381T>C, NM_001320981.2:c.1381T>C, NM_001320981.1:c.1381T>C, XM_011511116.2:c.1381T>C, XM_011511116.1:c.1381T>C, NM_001288706.2:c.1288T>C, NM_001288706.1:c.1288T>C, XM_047444180.1:c.949T>C, XM_047444179.1:c.1381T>C, XM_047444178.1:c.1381T>C, XM_047444181.1:c.949T>C, XM_047444183.1:c.949T>C, XM_047444177.1:c.1381T>C, XM_047444176.1:c.1381T>C, XM_047444182.1:c.949T>C, NM_001320983.1:c.949T>C, NM_001320985.1:c.676T>C, NM_001320984.1:c.832T>C, XP_005263991.1:p.Phe461Leu, NP_000868.1:p.Phe461Leu, XP_005263987.1:p.Phe461Leu, XP_011509420.1:p.Phe461Leu, XP_011509417.1:p.Phe461Leu, NP_001307909.1:p.Phe461Leu, NP_001307911.1:p.Phe461Leu, NP_001307907.1:p.Phe461Leu, NP_001307910.1:p.Phe461Leu, XP_011509418.1:p.Phe461Leu, NP_001275635.1:p.Phe430Leu, XP_047300136.1:p.Phe317Leu, XP_047300135.1:p.Phe461Leu, XP_047300134.1:p.Phe461Leu, XP_047300137.1:p.Phe317Leu, XP_047300139.1:p.Phe317Leu, XP_047300133.1:p.Phe461Leu, XP_047300132.1:p.Phe461Leu, XP_047300138.1:p.Phe317Leu, NP_001307912.1:p.Phe317Leu, NP_001307914.1:p.Phe226Leu, NP_001307913.1:p.Phe278Leu

          5.

          rs1481289900 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:102176744 (GRCh38)
            2:102793204 (GRCh37)
            Canonical SPDI:
            NC_000002.12:102176743:C:T
            Gene:
            IL1R1 (Varview), IL1R1-AS1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000028/1 (ALFA)
            T=0.000014/2 (GnomAD)
            T=0.000019/5 (TOPMED)
            T=0.000028/7 (GnomAD_exomes)
            T=0.000035/1 (TOMMO)
            HGVS:
            NC_000002.12:g.102176744C>T, NC_000002.11:g.102793204C>T, XM_005263934.5:c.1695C>T, XM_005263934.4:c.1695C>T, XM_005263934.3:c.1695C>T, XM_005263934.2:c.1695C>T, XM_005263934.1:c.1695C>T, NM_000877.4:c.1695C>T, NM_000877.3:c.1695C>T, NM_000877.2:c.1695C>T, XM_005263930.4:c.1695C>T, XM_005263930.3:c.1695C>T, XM_005263930.2:c.1695C>T, XM_005263930.1:c.1695C>T, XM_011511118.3:c.1695C>T, XM_011511118.2:c.1695C>T, XM_011511118.1:c.1695C>T, XM_011511115.3:c.1695C>T, XM_011511115.2:c.1695C>T, XM_011511115.1:c.1695C>T, NM_001320980.2:c.1695C>T, NM_001320980.1:c.1695C>T, NM_001320982.2:c.1695C>T, NM_001320982.1:c.1695C>T, NM_001320978.2:c.1695C>T, NM_001320978.1:c.1695C>T, NM_001320981.2:c.1695C>T, NM_001320981.1:c.1695C>T, XM_011511116.2:c.1695C>T, XM_011511116.1:c.1695C>T, NM_001288706.2:c.1602C>T, NM_001288706.1:c.1602C>T, XM_047444180.1:c.1263C>T, XM_047444179.1:c.1695C>T, XM_047444178.1:c.1695C>T, XM_047444181.1:c.1263C>T, XM_047444183.1:c.1263C>T, XM_047444177.1:c.1695C>T, XM_047444176.1:c.1695C>T, XM_047444182.1:c.1263C>T, NM_001320983.1:c.1263C>T, NM_001320985.1:c.990C>T, NM_001320984.1:c.1146C>T

            6.

            rs1479282608 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:102164784 (GRCh38)
              2:102781244 (GRCh37)
              Canonical SPDI:
              NC_000002.12:102164783:G:A
              Gene:
              IL1R1 (Varview)
              Functional Consequence:
              synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.102164784G>A, NC_000002.11:g.102781244G>A, XM_005263934.5:c.72G>A, XM_005263934.4:c.72G>A, XM_005263934.3:c.72G>A, XM_005263934.2:c.72G>A, XM_005263934.1:c.72G>A, NM_000877.4:c.72G>A, NM_000877.3:c.72G>A, NM_000877.2:c.72G>A, XM_005263930.4:c.72G>A, XM_005263930.3:c.72G>A, XM_005263930.2:c.72G>A, XM_005263930.1:c.72G>A, XM_011511118.3:c.72G>A, XM_011511118.2:c.72G>A, XM_011511118.1:c.72G>A, XM_011511115.3:c.72G>A, XM_011511115.2:c.72G>A, XM_011511115.1:c.72G>A, NM_001320980.2:c.72G>A, NM_001320980.1:c.72G>A, NM_001320982.2:c.72G>A, NM_001320982.1:c.72G>A, NM_001320978.2:c.72G>A, NM_001320978.1:c.72G>A, NM_001320981.2:c.72G>A, NM_001320981.1:c.72G>A, XM_011511116.2:c.72G>A, XM_011511116.1:c.72G>A, NM_001288706.2:c.72G>A, NM_001288706.1:c.72G>A, NM_001320986.2:c.72G>A, NM_001320986.1:c.72G>A, XM_047444180.1:c.-361G>A, XM_047444179.1:c.72G>A, XM_047444178.1:c.72G>A, XM_047444181.1:c.-361G>A, XM_047444183.1:c.-361G>A, XM_047444177.1:c.72G>A, XM_047444176.1:c.72G>A, XM_047444182.1:c.-361G>A, NM_001320983.1:c.-361G>A, NM_001320985.1:c.-465G>A, NM_001320984.1:c.-288G>A

              7.

              rs1478913390 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:102165297 (GRCh38)
                2:102781757 (GRCh37)
                Canonical SPDI:
                NC_000002.12:102165296:G:A
                Gene:
                IL1R1 (Varview)
                Functional Consequence:
                stop_gained,intron_variant,5_prime_UTR_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000005/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.102165297G>A, NC_000002.11:g.102781757G>A, XM_005263934.5:c.479G>A, XM_005263934.4:c.479G>A, XM_005263934.3:c.479G>A, XM_005263934.2:c.479G>A, XM_005263934.1:c.479G>A, NM_000877.4:c.479G>A, NM_000877.3:c.479G>A, NM_000877.2:c.479G>A, XM_005263930.4:c.479G>A, XM_005263930.3:c.479G>A, XM_005263930.2:c.479G>A, XM_005263930.1:c.479G>A, XM_011511118.3:c.479G>A, XM_011511118.2:c.479G>A, XM_011511118.1:c.479G>A, XM_011511115.3:c.479G>A, XM_011511115.2:c.479G>A, XM_011511115.1:c.479G>A, NM_001320980.2:c.479G>A, NM_001320980.1:c.479G>A, NM_001320982.2:c.479G>A, NM_001320982.1:c.479G>A, NM_001320978.2:c.479G>A, NM_001320978.1:c.479G>A, NM_001320981.2:c.479G>A, NM_001320981.1:c.479G>A, XM_011511116.2:c.479G>A, XM_011511116.1:c.479G>A, NM_001288706.2:c.479G>A, NM_001288706.1:c.479G>A, NM_001320986.2:c.479G>A, NM_001320986.1:c.479G>A, XM_047444180.1:c.47G>A, XM_047444179.1:c.479G>A, XM_047444178.1:c.479G>A, XM_047444181.1:c.47G>A, XM_047444183.1:c.47G>A, XM_047444177.1:c.479G>A, XM_047444176.1:c.479G>A, XM_047444182.1:c.47G>A, NM_001320983.1:c.47G>A, NM_001320985.1:c.-58G>A, XP_005263991.1:p.Trp160Ter, NP_000868.1:p.Trp160Ter, XP_005263987.1:p.Trp160Ter, XP_011509420.1:p.Trp160Ter, XP_011509417.1:p.Trp160Ter, NP_001307909.1:p.Trp160Ter, NP_001307911.1:p.Trp160Ter, NP_001307907.1:p.Trp160Ter, NP_001307910.1:p.Trp160Ter, XP_011509418.1:p.Trp160Ter, NP_001275635.1:p.Trp160Ter, NP_001307915.1:p.Trp160Ter, XP_047300136.1:p.Trp16Ter, XP_047300135.1:p.Trp160Ter, XP_047300134.1:p.Trp160Ter, XP_047300137.1:p.Trp16Ter, XP_047300139.1:p.Trp16Ter, XP_047300133.1:p.Trp160Ter, XP_047300132.1:p.Trp160Ter, XP_047300138.1:p.Trp16Ter, NP_001307912.1:p.Trp16Ter

                8.

                rs1478368407 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  2:102165214 (GRCh38)
                  2:102781674 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:102165213:A:T
                  Gene:
                  IL1R1 (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.102165214A>T, NC_000002.11:g.102781674A>T, XM_005263934.5:c.396A>T, XM_005263934.4:c.396A>T, XM_005263934.3:c.396A>T, XM_005263934.2:c.396A>T, XM_005263934.1:c.396A>T, NM_000877.4:c.396A>T, NM_000877.3:c.396A>T, NM_000877.2:c.396A>T, XM_005263930.4:c.396A>T, XM_005263930.3:c.396A>T, XM_005263930.2:c.396A>T, XM_005263930.1:c.396A>T, XM_011511118.3:c.396A>T, XM_011511118.2:c.396A>T, XM_011511118.1:c.396A>T, XM_011511115.3:c.396A>T, XM_011511115.2:c.396A>T, XM_011511115.1:c.396A>T, NM_001320980.2:c.396A>T, NM_001320980.1:c.396A>T, NM_001320982.2:c.396A>T, NM_001320982.1:c.396A>T, NM_001320978.2:c.396A>T, NM_001320978.1:c.396A>T, NM_001320981.2:c.396A>T, NM_001320981.1:c.396A>T, XM_011511116.2:c.396A>T, XM_011511116.1:c.396A>T, NM_001288706.2:c.396A>T, NM_001288706.1:c.396A>T, NM_001320986.2:c.396A>T, NM_001320986.1:c.396A>T, XM_047444180.1:c.-37A>T, XM_047444179.1:c.396A>T, XM_047444178.1:c.396A>T, XM_047444181.1:c.-37A>T, XM_047444183.1:c.-37A>T, XM_047444177.1:c.396A>T, XM_047444176.1:c.396A>T, XM_047444182.1:c.-37A>T, NM_001320983.1:c.-37A>T, NM_001320985.1:c.-141A>T

                  9.

                  rs1476284574 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:102176424 (GRCh38)
                    2:102792884 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:102176423:T:C
                    Gene:
                    IL1R1 (Varview), IL1R1-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000002.12:g.102176424T>C, NC_000002.11:g.102792884T>C, XM_005263934.5:c.1375T>C, XM_005263934.4:c.1375T>C, XM_005263934.3:c.1375T>C, XM_005263934.2:c.1375T>C, XM_005263934.1:c.1375T>C, NM_000877.4:c.1375T>C, NM_000877.3:c.1375T>C, NM_000877.2:c.1375T>C, XM_005263930.4:c.1375T>C, XM_005263930.3:c.1375T>C, XM_005263930.2:c.1375T>C, XM_005263930.1:c.1375T>C, XM_011511118.3:c.1375T>C, XM_011511118.2:c.1375T>C, XM_011511118.1:c.1375T>C, XM_011511115.3:c.1375T>C, XM_011511115.2:c.1375T>C, XM_011511115.1:c.1375T>C, NM_001320980.2:c.1375T>C, NM_001320980.1:c.1375T>C, NM_001320982.2:c.1375T>C, NM_001320982.1:c.1375T>C, NM_001320978.2:c.1375T>C, NM_001320978.1:c.1375T>C, NM_001320981.2:c.1375T>C, NM_001320981.1:c.1375T>C, XM_011511116.2:c.1375T>C, XM_011511116.1:c.1375T>C, NM_001288706.2:c.1282T>C, NM_001288706.1:c.1282T>C, XM_047444180.1:c.943T>C, XM_047444179.1:c.1375T>C, XM_047444178.1:c.1375T>C, XM_047444181.1:c.943T>C, XM_047444183.1:c.943T>C, XM_047444177.1:c.1375T>C, XM_047444176.1:c.1375T>C, XM_047444182.1:c.943T>C, NM_001320983.1:c.943T>C, NM_001320985.1:c.670T>C, NM_001320984.1:c.826T>C, XP_005263991.1:p.Ser459Pro, NP_000868.1:p.Ser459Pro, XP_005263987.1:p.Ser459Pro, XP_011509420.1:p.Ser459Pro, XP_011509417.1:p.Ser459Pro, NP_001307909.1:p.Ser459Pro, NP_001307911.1:p.Ser459Pro, NP_001307907.1:p.Ser459Pro, NP_001307910.1:p.Ser459Pro, XP_011509418.1:p.Ser459Pro, NP_001275635.1:p.Ser428Pro, XP_047300136.1:p.Ser315Pro, XP_047300135.1:p.Ser459Pro, XP_047300134.1:p.Ser459Pro, XP_047300137.1:p.Ser315Pro, XP_047300139.1:p.Ser315Pro, XP_047300133.1:p.Ser459Pro, XP_047300132.1:p.Ser459Pro, XP_047300138.1:p.Ser315Pro, NP_001307912.1:p.Ser315Pro, NP_001307914.1:p.Ser224Pro, NP_001307913.1:p.Ser276Pro

                    10.

                    rs1475582550 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:102175532 (GRCh38)
                      2:102791992 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:102175531:A:G
                      Gene:
                      IL1R1 (Varview), IL1R1-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.102175532A>G, NC_000002.11:g.102791992A>G, XM_005263934.5:c.1190A>G, XM_005263934.4:c.1190A>G, XM_005263934.3:c.1190A>G, XM_005263934.2:c.1190A>G, XM_005263934.1:c.1190A>G, NM_000877.4:c.1190A>G, NM_000877.3:c.1190A>G, NM_000877.2:c.1190A>G, XM_005263930.4:c.1190A>G, XM_005263930.3:c.1190A>G, XM_005263930.2:c.1190A>G, XM_005263930.1:c.1190A>G, XM_011511118.3:c.1190A>G, XM_011511118.2:c.1190A>G, XM_011511118.1:c.1190A>G, XM_011511115.3:c.1190A>G, XM_011511115.2:c.1190A>G, XM_011511115.1:c.1190A>G, NM_001320980.2:c.1190A>G, NM_001320980.1:c.1190A>G, NM_001320982.2:c.1190A>G, NM_001320982.1:c.1190A>G, NM_001320978.2:c.1190A>G, NM_001320978.1:c.1190A>G, NM_001320981.2:c.1190A>G, NM_001320981.1:c.1190A>G, XM_011511116.2:c.1190A>G, XM_011511116.1:c.1190A>G, XM_047444180.1:c.758A>G, XM_047444179.1:c.1190A>G, XM_047444178.1:c.1190A>G, XM_047444181.1:c.758A>G, XM_047444183.1:c.758A>G, XM_047444177.1:c.1190A>G, XM_047444176.1:c.1190A>G, XM_047444182.1:c.758A>G, NM_001320983.1:c.758A>G, NM_001320985.1:c.485A>G, NM_001320984.1:c.641A>G, XP_005263991.1:p.Glu397Gly, NP_000868.1:p.Glu397Gly, XP_005263987.1:p.Glu397Gly, XP_011509420.1:p.Glu397Gly, XP_011509417.1:p.Glu397Gly, NP_001307909.1:p.Glu397Gly, NP_001307911.1:p.Glu397Gly, NP_001307907.1:p.Glu397Gly, NP_001307910.1:p.Glu397Gly, XP_011509418.1:p.Glu397Gly, XP_047300136.1:p.Glu253Gly, XP_047300135.1:p.Glu397Gly, XP_047300134.1:p.Glu397Gly, XP_047300137.1:p.Glu253Gly, XP_047300139.1:p.Glu253Gly, XP_047300133.1:p.Glu397Gly, XP_047300132.1:p.Glu397Gly, XP_047300138.1:p.Glu253Gly, NP_001307912.1:p.Glu253Gly, NP_001307914.1:p.Glu162Gly, NP_001307913.1:p.Glu214Gly

                      11.

                      rs1461234796 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        2:102174634 (GRCh38)
                        2:102791094 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:102174633:G:A,NC_000002.12:102174633:G:T
                        Gene:
                        IL1R1 (Varview), IL1R1-AS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        A=0.000546/1 (Korea1K)
                        HGVS:
                        NC_000002.12:g.102174634G>A, NC_000002.12:g.102174634G>T, NC_000002.11:g.102791094G>A, NC_000002.11:g.102791094G>T, XM_005263934.5:c.1039G>A, XM_005263934.5:c.1039G>T, XM_005263934.4:c.1039G>A, XM_005263934.4:c.1039G>T, XM_005263934.3:c.1039G>A, XM_005263934.3:c.1039G>T, XM_005263934.2:c.1039G>A, XM_005263934.2:c.1039G>T, XM_005263934.1:c.1039G>A, XM_005263934.1:c.1039G>T, NM_000877.4:c.1039G>A, NM_000877.4:c.1039G>T, NM_000877.3:c.1039G>A, NM_000877.3:c.1039G>T, NM_000877.2:c.1039G>A, NM_000877.2:c.1039G>T, XM_005263930.4:c.1039G>A, XM_005263930.4:c.1039G>T, XM_005263930.3:c.1039G>A, XM_005263930.3:c.1039G>T, XM_005263930.2:c.1039G>A, XM_005263930.2:c.1039G>T, XM_005263930.1:c.1039G>A, XM_005263930.1:c.1039G>T, XM_011511118.3:c.1039G>A, XM_011511118.3:c.1039G>T, XM_011511118.2:c.1039G>A, XM_011511118.2:c.1039G>T, XM_011511118.1:c.1039G>A, XM_011511118.1:c.1039G>T, XM_011511115.3:c.1039G>A, XM_011511115.3:c.1039G>T, XM_011511115.2:c.1039G>A, XM_011511115.2:c.1039G>T, XM_011511115.1:c.1039G>A, XM_011511115.1:c.1039G>T, NM_001320980.2:c.1039G>A, NM_001320980.2:c.1039G>T, NM_001320980.1:c.1039G>A, NM_001320980.1:c.1039G>T, NM_001320982.2:c.1039G>A, NM_001320982.2:c.1039G>T, NM_001320982.1:c.1039G>A, NM_001320982.1:c.1039G>T, NM_001320978.2:c.1039G>A, NM_001320978.2:c.1039G>T, NM_001320978.1:c.1039G>A, NM_001320978.1:c.1039G>T, NM_001320981.2:c.1039G>A, NM_001320981.2:c.1039G>T, NM_001320981.1:c.1039G>A, NM_001320981.1:c.1039G>T, XM_011511116.2:c.1039G>A, XM_011511116.2:c.1039G>T, XM_011511116.1:c.1039G>A, XM_011511116.1:c.1039G>T, NM_001288706.2:c.1039G>A, NM_001288706.2:c.1039G>T, NM_001288706.1:c.1039G>A, NM_001288706.1:c.1039G>T, XM_047444180.1:c.607G>A, XM_047444180.1:c.607G>T, XM_047444179.1:c.1039G>A, XM_047444179.1:c.1039G>T, XM_047444178.1:c.1039G>A, XM_047444178.1:c.1039G>T, XM_047444181.1:c.607G>A, XM_047444181.1:c.607G>T, XM_047444183.1:c.607G>A, XM_047444183.1:c.607G>T, XM_047444177.1:c.1039G>A, XM_047444177.1:c.1039G>T, XM_047444176.1:c.1039G>A, XM_047444176.1:c.1039G>T, XM_047444182.1:c.607G>A, XM_047444182.1:c.607G>T, NM_001320983.1:c.607G>A, NM_001320983.1:c.607G>T, NM_001320985.1:c.334G>A, NM_001320985.1:c.334G>T, NM_001320984.1:c.490G>A, NM_001320984.1:c.490G>T, XP_005263991.1:p.Val347Ile, XP_005263991.1:p.Val347Phe, NP_000868.1:p.Val347Ile, NP_000868.1:p.Val347Phe, XP_005263987.1:p.Val347Ile, XP_005263987.1:p.Val347Phe, XP_011509420.1:p.Val347Ile, XP_011509420.1:p.Val347Phe, XP_011509417.1:p.Val347Ile, XP_011509417.1:p.Val347Phe, NP_001307909.1:p.Val347Ile, NP_001307909.1:p.Val347Phe, NP_001307911.1:p.Val347Ile, NP_001307911.1:p.Val347Phe, NP_001307907.1:p.Val347Ile, NP_001307907.1:p.Val347Phe, NP_001307910.1:p.Val347Ile, NP_001307910.1:p.Val347Phe, XP_011509418.1:p.Val347Ile, XP_011509418.1:p.Val347Phe, NP_001275635.1:p.Val347Ile, NP_001275635.1:p.Val347Phe, XP_047300136.1:p.Val203Ile, XP_047300136.1:p.Val203Phe, XP_047300135.1:p.Val347Ile, XP_047300135.1:p.Val347Phe, XP_047300134.1:p.Val347Ile, XP_047300134.1:p.Val347Phe, XP_047300137.1:p.Val203Ile, XP_047300137.1:p.Val203Phe, XP_047300139.1:p.Val203Ile, XP_047300139.1:p.Val203Phe, XP_047300133.1:p.Val347Ile, XP_047300133.1:p.Val347Phe, XP_047300132.1:p.Val347Ile, XP_047300132.1:p.Val347Phe, XP_047300138.1:p.Val203Ile, XP_047300138.1:p.Val203Phe, NP_001307912.1:p.Val203Ile, NP_001307912.1:p.Val203Phe, NP_001307914.1:p.Val112Ile, NP_001307914.1:p.Val112Phe, NP_001307913.1:p.Val164Ile, NP_001307913.1:p.Val164Phe

                        12.

                        rs1461146383 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:102166250 (GRCh38)
                          2:102782710 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:102166249:T:C
                          Gene:
                          IL1R1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.102166250T>C, NC_000002.11:g.102782710T>C, XM_005263934.5:c.624T>C, XM_005263934.4:c.624T>C, XM_005263934.3:c.624T>C, XM_005263934.2:c.624T>C, XM_005263934.1:c.624T>C, NM_000877.4:c.624T>C, NM_000877.3:c.624T>C, NM_000877.2:c.624T>C, XM_005263930.4:c.624T>C, XM_005263930.3:c.624T>C, XM_005263930.2:c.624T>C, XM_005263930.1:c.624T>C, XM_011511118.3:c.624T>C, XM_011511118.2:c.624T>C, XM_011511118.1:c.624T>C, XM_011511115.3:c.624T>C, XM_011511115.2:c.624T>C, XM_011511115.1:c.624T>C, NM_001320980.2:c.624T>C, NM_001320980.1:c.624T>C, NM_001320982.2:c.624T>C, NM_001320982.1:c.624T>C, NM_001320978.2:c.624T>C, NM_001320978.1:c.624T>C, NM_001320981.2:c.624T>C, NM_001320981.1:c.624T>C, XM_011511116.2:c.624T>C, XM_011511116.1:c.624T>C, NM_001288706.2:c.624T>C, NM_001288706.1:c.624T>C, XM_047444180.1:c.192T>C, XM_047444179.1:c.624T>C, XM_047444178.1:c.624T>C, XM_047444181.1:c.192T>C, XM_047444183.1:c.192T>C, XM_047444177.1:c.624T>C, XM_047444176.1:c.624T>C, XM_047444182.1:c.192T>C, NM_001320983.1:c.192T>C, NM_001320984.1:c.75T>C

                          13.

                          rs1460892418 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:102172789 (GRCh38)
                            2:102789249 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:102172788:C:T
                            Gene:
                            IL1R1 (Varview), IL1R1-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000111/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.102172789C>T, NC_000002.11:g.102789249C>T, XM_005263934.5:c.942C>T, XM_005263934.4:c.942C>T, XM_005263934.3:c.942C>T, XM_005263934.2:c.942C>T, XM_005263934.1:c.942C>T, NM_000877.4:c.942C>T, NM_000877.3:c.942C>T, NM_000877.2:c.942C>T, XM_005263930.4:c.942C>T, XM_005263930.3:c.942C>T, XM_005263930.2:c.942C>T, XM_005263930.1:c.942C>T, XM_011511118.3:c.942C>T, XM_011511118.2:c.942C>T, XM_011511118.1:c.942C>T, XM_011511115.3:c.942C>T, XM_011511115.2:c.942C>T, XM_011511115.1:c.942C>T, NM_001320980.2:c.942C>T, NM_001320980.1:c.942C>T, NM_001320982.2:c.942C>T, NM_001320982.1:c.942C>T, NM_001320978.2:c.942C>T, NM_001320978.1:c.942C>T, NM_001320981.2:c.942C>T, NM_001320981.1:c.942C>T, XM_011511116.2:c.942C>T, XM_011511116.1:c.942C>T, NM_001288706.2:c.942C>T, NM_001288706.1:c.942C>T, XM_047444180.1:c.510C>T, XM_047444179.1:c.942C>T, XM_047444178.1:c.942C>T, XM_047444181.1:c.510C>T, XM_047444183.1:c.510C>T, XM_047444177.1:c.942C>T, XM_047444176.1:c.942C>T, XM_047444182.1:c.510C>T, NM_001320983.1:c.510C>T, NM_001320985.1:c.237C>T, NM_001320984.1:c.393C>T

                            14.

                            rs1459622179 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:102175501 (GRCh38)
                              2:102791961 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:102175500:G:A
                              Gene:
                              IL1R1 (Varview), IL1R1-AS1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000002.12:g.102175501G>A, NC_000002.11:g.102791961G>A, XM_005263934.5:c.1159G>A, XM_005263934.4:c.1159G>A, XM_005263934.3:c.1159G>A, XM_005263934.2:c.1159G>A, XM_005263934.1:c.1159G>A, NM_000877.4:c.1159G>A, NM_000877.3:c.1159G>A, NM_000877.2:c.1159G>A, XM_005263930.4:c.1159G>A, XM_005263930.3:c.1159G>A, XM_005263930.2:c.1159G>A, XM_005263930.1:c.1159G>A, XM_011511118.3:c.1159G>A, XM_011511118.2:c.1159G>A, XM_011511118.1:c.1159G>A, XM_011511115.3:c.1159G>A, XM_011511115.2:c.1159G>A, XM_011511115.1:c.1159G>A, NM_001320980.2:c.1159G>A, NM_001320980.1:c.1159G>A, NM_001320982.2:c.1159G>A, NM_001320982.1:c.1159G>A, NM_001320978.2:c.1159G>A, NM_001320978.1:c.1159G>A, NM_001320981.2:c.1159G>A, NM_001320981.1:c.1159G>A, XM_011511116.2:c.1159G>A, XM_011511116.1:c.1159G>A, XM_047444180.1:c.727G>A, XM_047444179.1:c.1159G>A, XM_047444178.1:c.1159G>A, XM_047444181.1:c.727G>A, XM_047444183.1:c.727G>A, XM_047444177.1:c.1159G>A, XM_047444176.1:c.1159G>A, XM_047444182.1:c.727G>A, NM_001320983.1:c.727G>A, NM_001320985.1:c.454G>A, NM_001320984.1:c.610G>A, XP_005263991.1:p.Ala387Thr, NP_000868.1:p.Ala387Thr, XP_005263987.1:p.Ala387Thr, XP_011509420.1:p.Ala387Thr, XP_011509417.1:p.Ala387Thr, NP_001307909.1:p.Ala387Thr, NP_001307911.1:p.Ala387Thr, NP_001307907.1:p.Ala387Thr, NP_001307910.1:p.Ala387Thr, XP_011509418.1:p.Ala387Thr, XP_047300136.1:p.Ala243Thr, XP_047300135.1:p.Ala387Thr, XP_047300134.1:p.Ala387Thr, XP_047300137.1:p.Ala243Thr, XP_047300139.1:p.Ala243Thr, XP_047300133.1:p.Ala387Thr, XP_047300132.1:p.Ala387Thr, XP_047300138.1:p.Ala243Thr, NP_001307912.1:p.Ala243Thr, NP_001307914.1:p.Ala152Thr, NP_001307913.1:p.Ala204Thr

                              15.

                              rs1454942118 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:102164871 (GRCh38)
                                2:102781331 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:102164870:C:T
                                Gene:
                                IL1R1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000002.12:g.102164871C>T, NC_000002.11:g.102781331C>T, XM_005263934.5:c.159C>T, XM_005263934.4:c.159C>T, XM_005263934.3:c.159C>T, XM_005263934.2:c.159C>T, XM_005263934.1:c.159C>T, NM_000877.4:c.159C>T, NM_000877.3:c.159C>T, NM_000877.2:c.159C>T, XM_005263930.4:c.159C>T, XM_005263930.3:c.159C>T, XM_005263930.2:c.159C>T, XM_005263930.1:c.159C>T, XM_011511118.3:c.159C>T, XM_011511118.2:c.159C>T, XM_011511118.1:c.159C>T, XM_011511115.3:c.159C>T, XM_011511115.2:c.159C>T, XM_011511115.1:c.159C>T, NM_001320980.2:c.159C>T, NM_001320980.1:c.159C>T, NM_001320982.2:c.159C>T, NM_001320982.1:c.159C>T, NM_001320978.2:c.159C>T, NM_001320978.1:c.159C>T, NM_001320981.2:c.159C>T, NM_001320981.1:c.159C>T, XM_011511116.2:c.159C>T, XM_011511116.1:c.159C>T, NM_001288706.2:c.159C>T, NM_001288706.1:c.159C>T, NM_001320986.2:c.159C>T, NM_001320986.1:c.159C>T, XM_047444180.1:c.-274C>T, XM_047444179.1:c.159C>T, XM_047444178.1:c.159C>T, XM_047444181.1:c.-274C>T, XM_047444183.1:c.-274C>T, XM_047444177.1:c.159C>T, XM_047444176.1:c.159C>T, XM_047444182.1:c.-274C>T, NM_001320983.1:c.-274C>T, NM_001320985.1:c.-378C>T, NM_001320984.1:c.-201C>T

                                16.

                                rs1454319003 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:102174705 (GRCh38)
                                  2:102791165 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:102174704:C:T
                                  Gene:
                                  IL1R1 (Varview), IL1R1-AS1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.102174705C>T, NC_000002.11:g.102791165C>T, XM_005263934.5:c.1110C>T, XM_005263934.4:c.1110C>T, XM_005263934.3:c.1110C>T, XM_005263934.2:c.1110C>T, XM_005263934.1:c.1110C>T, NM_000877.4:c.1110C>T, NM_000877.3:c.1110C>T, NM_000877.2:c.1110C>T, XM_005263930.4:c.1110C>T, XM_005263930.3:c.1110C>T, XM_005263930.2:c.1110C>T, XM_005263930.1:c.1110C>T, XM_011511118.3:c.1110C>T, XM_011511118.2:c.1110C>T, XM_011511118.1:c.1110C>T, XM_011511115.3:c.1110C>T, XM_011511115.2:c.1110C>T, XM_011511115.1:c.1110C>T, NM_001320980.2:c.1110C>T, NM_001320980.1:c.1110C>T, NM_001320982.2:c.1110C>T, NM_001320982.1:c.1110C>T, NM_001320978.2:c.1110C>T, NM_001320978.1:c.1110C>T, NM_001320981.2:c.1110C>T, NM_001320981.1:c.1110C>T, XM_011511116.2:c.1110C>T, XM_011511116.1:c.1110C>T, NM_001288706.2:c.1110C>T, NM_001288706.1:c.1110C>T, XM_047444180.1:c.678C>T, XM_047444179.1:c.1110C>T, XM_047444178.1:c.1110C>T, XM_047444181.1:c.678C>T, XM_047444183.1:c.678C>T, XM_047444177.1:c.1110C>T, XM_047444176.1:c.1110C>T, XM_047444182.1:c.678C>T, NM_001320983.1:c.678C>T, NM_001320985.1:c.405C>T, NM_001320984.1:c.561C>T

                                  17.

                                  rs1453880320 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    2:102164850 (GRCh38)
                                    2:102781310 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:102164849:T:G
                                    Gene:
                                    IL1R1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.102164850T>G, NC_000002.11:g.102781310T>G, XM_005263934.5:c.138T>G, XM_005263934.4:c.138T>G, XM_005263934.3:c.138T>G, XM_005263934.2:c.138T>G, XM_005263934.1:c.138T>G, NM_000877.4:c.138T>G, NM_000877.3:c.138T>G, NM_000877.2:c.138T>G, XM_005263930.4:c.138T>G, XM_005263930.3:c.138T>G, XM_005263930.2:c.138T>G, XM_005263930.1:c.138T>G, XM_011511118.3:c.138T>G, XM_011511118.2:c.138T>G, XM_011511118.1:c.138T>G, XM_011511115.3:c.138T>G, XM_011511115.2:c.138T>G, XM_011511115.1:c.138T>G, NM_001320980.2:c.138T>G, NM_001320980.1:c.138T>G, NM_001320982.2:c.138T>G, NM_001320982.1:c.138T>G, NM_001320978.2:c.138T>G, NM_001320978.1:c.138T>G, NM_001320981.2:c.138T>G, NM_001320981.1:c.138T>G, XM_011511116.2:c.138T>G, XM_011511116.1:c.138T>G, NM_001288706.2:c.138T>G, NM_001288706.1:c.138T>G, NM_001320986.2:c.138T>G, NM_001320986.1:c.138T>G, XM_047444180.1:c.-295T>G, XM_047444179.1:c.138T>G, XM_047444178.1:c.138T>G, XM_047444181.1:c.-295T>G, XM_047444183.1:c.-295T>G, XM_047444177.1:c.138T>G, XM_047444176.1:c.138T>G, XM_047444182.1:c.-295T>G, NM_001320983.1:c.-295T>G, NM_001320985.1:c.-399T>G, NM_001320984.1:c.-222T>G

                                    18.

                                    rs1452888518 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:102164969 (GRCh38)
                                      2:102781429 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:102164968:C:T
                                      Gene:
                                      IL1R1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000002.12:g.102164969C>T, NC_000002.11:g.102781429C>T, XM_005263934.5:c.257C>T, XM_005263934.4:c.257C>T, XM_005263934.3:c.257C>T, XM_005263934.2:c.257C>T, XM_005263934.1:c.257C>T, NM_000877.4:c.257C>T, NM_000877.3:c.257C>T, NM_000877.2:c.257C>T, XM_005263930.4:c.257C>T, XM_005263930.3:c.257C>T, XM_005263930.2:c.257C>T, XM_005263930.1:c.257C>T, XM_011511118.3:c.257C>T, XM_011511118.2:c.257C>T, XM_011511118.1:c.257C>T, XM_011511115.3:c.257C>T, XM_011511115.2:c.257C>T, XM_011511115.1:c.257C>T, NM_001320980.2:c.257C>T, NM_001320980.1:c.257C>T, NM_001320982.2:c.257C>T, NM_001320982.1:c.257C>T, NM_001320978.2:c.257C>T, NM_001320978.1:c.257C>T, NM_001320981.2:c.257C>T, NM_001320981.1:c.257C>T, XM_011511116.2:c.257C>T, XM_011511116.1:c.257C>T, NM_001288706.2:c.257C>T, NM_001288706.1:c.257C>T, NM_001320986.2:c.257C>T, NM_001320986.1:c.257C>T, XM_047444180.1:c.-176C>T, XM_047444179.1:c.257C>T, XM_047444178.1:c.257C>T, XM_047444181.1:c.-176C>T, XM_047444183.1:c.-176C>T, XM_047444177.1:c.257C>T, XM_047444176.1:c.257C>T, XM_047444182.1:c.-176C>T, NM_001320983.1:c.-176C>T, NM_001320985.1:c.-280C>T, NM_001320984.1:c.-103C>T, XP_005263991.1:p.Ala86Val, NP_000868.1:p.Ala86Val, XP_005263987.1:p.Ala86Val, XP_011509420.1:p.Ala86Val, XP_011509417.1:p.Ala86Val, NP_001307909.1:p.Ala86Val, NP_001307911.1:p.Ala86Val, NP_001307907.1:p.Ala86Val, NP_001307910.1:p.Ala86Val, XP_011509418.1:p.Ala86Val, NP_001275635.1:p.Ala86Val, NP_001307915.1:p.Ala86Val, XP_047300135.1:p.Ala86Val, XP_047300134.1:p.Ala86Val, XP_047300133.1:p.Ala86Val, XP_047300132.1:p.Ala86Val

                                      19.

                                      rs1451021078 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:102165281 (GRCh38)
                                        2:102781741 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:102165280:T:C
                                        Gene:
                                        IL1R1 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        NC_000002.12:g.102165281T>C, NC_000002.11:g.102781741T>C, XM_005263934.5:c.463T>C, XM_005263934.4:c.463T>C, XM_005263934.3:c.463T>C, XM_005263934.2:c.463T>C, XM_005263934.1:c.463T>C, NM_000877.4:c.463T>C, NM_000877.3:c.463T>C, NM_000877.2:c.463T>C, XM_005263930.4:c.463T>C, XM_005263930.3:c.463T>C, XM_005263930.2:c.463T>C, XM_005263930.1:c.463T>C, XM_011511118.3:c.463T>C, XM_011511118.2:c.463T>C, XM_011511118.1:c.463T>C, XM_011511115.3:c.463T>C, XM_011511115.2:c.463T>C, XM_011511115.1:c.463T>C, NM_001320980.2:c.463T>C, NM_001320980.1:c.463T>C, NM_001320982.2:c.463T>C, NM_001320982.1:c.463T>C, NM_001320978.2:c.463T>C, NM_001320978.1:c.463T>C, NM_001320981.2:c.463T>C, NM_001320981.1:c.463T>C, XM_011511116.2:c.463T>C, XM_011511116.1:c.463T>C, NM_001288706.2:c.463T>C, NM_001288706.1:c.463T>C, NM_001320986.2:c.463T>C, NM_001320986.1:c.463T>C, XM_047444180.1:c.31T>C, XM_047444179.1:c.463T>C, XM_047444178.1:c.463T>C, XM_047444181.1:c.31T>C, XM_047444183.1:c.31T>C, XM_047444177.1:c.463T>C, XM_047444176.1:c.463T>C, XM_047444182.1:c.31T>C, NM_001320983.1:c.31T>C, NM_001320985.1:c.-74T>C

                                        20.

                                        rs1450284611 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:102166155 (GRCh38)
                                          2:102782615 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:102166154:G:A
                                          Gene:
                                          IL1R1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.102166155G>A, NC_000002.11:g.102782615G>A, XM_005263934.5:c.529G>A, XM_005263934.4:c.529G>A, XM_005263934.3:c.529G>A, XM_005263934.2:c.529G>A, XM_005263934.1:c.529G>A, NM_000877.4:c.529G>A, NM_000877.3:c.529G>A, NM_000877.2:c.529G>A, XM_005263930.4:c.529G>A, XM_005263930.3:c.529G>A, XM_005263930.2:c.529G>A, XM_005263930.1:c.529G>A, XM_011511118.3:c.529G>A, XM_011511118.2:c.529G>A, XM_011511118.1:c.529G>A, XM_011511115.3:c.529G>A, XM_011511115.2:c.529G>A, XM_011511115.1:c.529G>A, NM_001320980.2:c.529G>A, NM_001320980.1:c.529G>A, NM_001320982.2:c.529G>A, NM_001320982.1:c.529G>A, NM_001320978.2:c.529G>A, NM_001320978.1:c.529G>A, NM_001320981.2:c.529G>A, NM_001320981.1:c.529G>A, XM_011511116.2:c.529G>A, XM_011511116.1:c.529G>A, NM_001288706.2:c.529G>A, NM_001288706.1:c.529G>A, XM_047444180.1:c.97G>A, XM_047444179.1:c.529G>A, XM_047444178.1:c.529G>A, XM_047444181.1:c.97G>A, XM_047444183.1:c.97G>A, XM_047444177.1:c.529G>A, XM_047444176.1:c.529G>A, XM_047444182.1:c.97G>A, NM_001320983.1:c.97G>A, NM_001320984.1:c.-21G>A, XP_005263991.1:p.Val177Ile, NP_000868.1:p.Val177Ile, XP_005263987.1:p.Val177Ile, XP_011509420.1:p.Val177Ile, XP_011509417.1:p.Val177Ile, NP_001307909.1:p.Val177Ile, NP_001307911.1:p.Val177Ile, NP_001307907.1:p.Val177Ile, NP_001307910.1:p.Val177Ile, XP_011509418.1:p.Val177Ile, NP_001275635.1:p.Val177Ile, XP_047300136.1:p.Val33Ile, XP_047300135.1:p.Val177Ile, XP_047300134.1:p.Val177Ile, XP_047300137.1:p.Val33Ile, XP_047300139.1:p.Val33Ile, XP_047300133.1:p.Val177Ile, XP_047300132.1:p.Val177Ile, XP_047300138.1:p.Val33Ile, NP_001307912.1:p.Val33Ile

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