U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 1000

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.

    rs1489998447 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      2:102178805 (GRCh38)
      2:102795265 (GRCh37)
      Canonical SPDI:
      NC_000002.12:102178804:G:A
      Gene:
      IL1R1 (Varview), IL1R1-AS1 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_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.102178805G>A, NC_000002.11:g.102795265G>A, XM_005263934.5:c.*2046G>A, XM_005263934.4:c.*2046G>A, XM_005263934.3:c.*2046G>A, XM_005263934.2:c.*2046G>A, XM_005263934.1:c.*2046G>A, NM_000877.4:c.*2046G>A, NM_000877.3:c.*2046G>A, NM_000877.2:c.*2046G>A, XM_005263930.4:c.*2046G>A, XM_005263930.3:c.*2046G>A, XM_005263930.2:c.*2046G>A, XM_005263930.1:c.*2046G>A, XM_011511118.3:c.*2046G>A, XM_011511118.2:c.*2046G>A, XM_011511118.1:c.*2046G>A, XM_011511115.3:c.*2046G>A, XM_011511115.2:c.*2046G>A, XM_011511115.1:c.*2046G>A, NM_001320980.2:c.*2046G>A, NM_001320980.1:c.*2046G>A, NM_001320982.2:c.*2046G>A, NM_001320982.1:c.*2046G>A, NM_001320978.2:c.*2046G>A, NM_001320978.1:c.*2046G>A, NM_001320981.2:c.*2046G>A, NM_001320981.1:c.*2046G>A, XM_011511116.2:c.*2046G>A, XM_011511116.1:c.*2046G>A, NM_001288706.2:c.*2046G>A, NM_001288706.1:c.*2046G>A, XM_047444180.1:c.*2046G>A, XM_047444179.1:c.*2046G>A, XM_047444178.1:c.*2046G>A, XM_047444181.1:c.*2046G>A, XM_047444183.1:c.*2046G>A, XM_047444177.1:c.*2046G>A, XM_047444176.1:c.*2046G>A, XM_047444182.1:c.*2046G>A, NM_001320983.1:c.*2046G>A, NM_001320985.1:c.*2046G>A, NM_001320984.1:c.*2046G>A

      3.

      rs1488926336 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:102178603 (GRCh38)
        2:102795063 (GRCh37)
        Canonical SPDI:
        NC_000002.12:102178602:C:T
        Gene:
        IL1R1 (Varview), IL1R1-AS1 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000002.12:g.102178603C>T, NC_000002.11:g.102795063C>T, XM_005263934.5:c.*1844C>T, XM_005263934.4:c.*1844C>T, XM_005263934.3:c.*1844C>T, XM_005263934.2:c.*1844C>T, XM_005263934.1:c.*1844C>T, NM_000877.4:c.*1844C>T, NM_000877.3:c.*1844C>T, NM_000877.2:c.*1844C>T, XM_005263930.4:c.*1844C>T, XM_005263930.3:c.*1844C>T, XM_005263930.2:c.*1844C>T, XM_005263930.1:c.*1844C>T, XM_011511118.3:c.*1844C>T, XM_011511118.2:c.*1844C>T, XM_011511118.1:c.*1844C>T, XM_011511115.3:c.*1844C>T, XM_011511115.2:c.*1844C>T, XM_011511115.1:c.*1844C>T, NM_001320980.2:c.*1844C>T, NM_001320980.1:c.*1844C>T, NM_001320982.2:c.*1844C>T, NM_001320982.1:c.*1844C>T, NM_001320978.2:c.*1844C>T, NM_001320978.1:c.*1844C>T, NM_001320981.2:c.*1844C>T, NM_001320981.1:c.*1844C>T, XM_011511116.2:c.*1844C>T, XM_011511116.1:c.*1844C>T, NM_001288706.2:c.*1844C>T, NM_001288706.1:c.*1844C>T, XM_047444180.1:c.*1844C>T, XM_047444179.1:c.*1844C>T, XM_047444178.1:c.*1844C>T, XM_047444181.1:c.*1844C>T, XM_047444183.1:c.*1844C>T, XM_047444177.1:c.*1844C>T, XM_047444176.1:c.*1844C>T, XM_047444182.1:c.*1844C>T, NM_001320983.1:c.*1844C>T, NM_001320985.1:c.*1844C>T, NM_001320984.1:c.*1844C>T

        4.

        rs1488623498 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AATGTTTCAT>- [Show Flanks]
          Chromosome:
          2:102178778 (GRCh38)
          2:102795238 (GRCh37)
          Canonical SPDI:
          NC_000002.12:102178777:AATGTTTCAT:
          Gene:
          IL1R1 (Varview), IL1R1-AS1 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.000071/1 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000007/1 (GnomAD)
          HGVS:
          NC_000002.12:g.102178778_102178787del, NC_000002.11:g.102795238_102795247del, XM_005263934.5:c.*2019_*2028del, XM_005263934.4:c.*2019_*2028del, XM_005263934.3:c.*2019_*2028del, XM_005263934.2:c.*2019_*2028del, XM_005263934.1:c.*2019_*2028del, NM_000877.4:c.*2019_*2028del, NM_000877.3:c.*2019_*2028del, NM_000877.2:c.*2019_*2028del, XM_005263930.4:c.*2019_*2028del, XM_005263930.3:c.*2019_*2028del, XM_005263930.2:c.*2019_*2028del, XM_005263930.1:c.*2019_*2028del, XM_011511118.3:c.*2019_*2028del, XM_011511118.2:c.*2019_*2028del, XM_011511118.1:c.*2019_*2028del, XM_011511115.3:c.*2019_*2028del, XM_011511115.2:c.*2019_*2028del, XM_011511115.1:c.*2019_*2028del, NM_001320980.2:c.*2019_*2028del, NM_001320980.1:c.*2019_*2028del, NM_001320982.2:c.*2019_*2028del, NM_001320982.1:c.*2019_*2028del, NM_001320978.2:c.*2019_*2028del, NM_001320978.1:c.*2019_*2028del, NM_001320981.2:c.*2019_*2028del, NM_001320981.1:c.*2019_*2028del, XM_011511116.2:c.*2019_*2028del, XM_011511116.1:c.*2019_*2028del, NM_001288706.2:c.*2019_*2028del, NM_001288706.1:c.*2019_*2028del, XM_047444180.1:c.*2019_*2028del, XM_047444179.1:c.*2019_*2028del, XM_047444178.1:c.*2019_*2028del, XM_047444181.1:c.*2019_*2028del, XM_047444183.1:c.*2019_*2028del, XM_047444177.1:c.*2019_*2028del, XM_047444176.1:c.*2019_*2028del, XM_047444182.1:c.*2019_*2028del, NM_001320983.1:c.*2019_*2028del, NM_001320985.1:c.*2019_*2028del, NM_001320984.1:c.*2019_*2028del

          5.

          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

            6.

            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

              7.

              rs1488291456 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:102179652 (GRCh38)
                2:102796112 (GRCh37)
                Canonical SPDI:
                NC_000002.12:102179651:T:C
                Gene:
                IL1R1 (Varview), IL1R1-AS1 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.102179652T>C, NC_000002.11:g.102796112T>C, XM_005263934.5:c.*2893T>C, XM_005263934.4:c.*2893T>C, XM_005263934.3:c.*2893T>C, XM_005263934.2:c.*2893T>C, XM_005263934.1:c.*2893T>C, NM_000877.4:c.*2893T>C, NM_000877.3:c.*2893T>C, NM_000877.2:c.*2893T>C, XM_005263930.4:c.*2893T>C, XM_005263930.3:c.*2893T>C, XM_005263930.2:c.*2893T>C, XM_005263930.1:c.*2893T>C, XM_011511118.3:c.*2893T>C, XM_011511118.2:c.*2893T>C, XM_011511118.1:c.*2893T>C, XM_011511115.3:c.*2893T>C, XM_011511115.2:c.*2893T>C, XM_011511115.1:c.*2893T>C, NM_001320980.2:c.*2893T>C, NM_001320980.1:c.*2893T>C, NM_001320982.2:c.*2893T>C, NM_001320982.1:c.*2893T>C, NM_001320978.2:c.*2893T>C, NM_001320978.1:c.*2893T>C, NM_001320981.2:c.*2893T>C, NM_001320981.1:c.*2893T>C, XM_011511116.2:c.*2893T>C, XM_011511116.1:c.*2893T>C, NM_001288706.2:c.*2893T>C, NM_001288706.1:c.*2893T>C, XM_047444180.1:c.*2893T>C, XM_047444179.1:c.*2893T>C, XM_047444178.1:c.*2893T>C, XM_047444181.1:c.*2893T>C, XM_047444183.1:c.*2893T>C, XM_047444177.1:c.*2893T>C, XM_047444176.1:c.*2893T>C, XM_047444182.1:c.*2893T>C, NM_001320983.1:c.*2893T>C, NM_001320985.1:c.*2893T>C, NM_001320984.1:c.*2893T>C

                8.

                rs1487995797 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->ATTCA [Show Flanks]
                  Chromosome:
                  2:102177167 (GRCh38)
                  2:102793628 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:102177167:A:AATTCA
                  Gene:
                  IL1R1 (Varview), IL1R1-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AATTCA=0./0 (ALFA)
                  AATTC=0.000021/3 (GnomAD)
                  AATTC=0.000123/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.102177168_102177169insATTCA, NC_000002.11:g.102793628_102793629insATTCA, XM_005263934.5:c.*409_*410insATTCA, XM_005263934.4:c.*409_*410insATTCA, XM_005263934.3:c.*409_*410insATTCA, XM_005263934.2:c.*409_*410insATTCA, XM_005263934.1:c.*409_*410insATTCA, NM_000877.4:c.*409_*410insATTCA, NM_000877.3:c.*409_*410insATTCA, NM_000877.2:c.*409_*410insATTCA, XM_005263930.4:c.*409_*410insATTCA, XM_005263930.3:c.*409_*410insATTCA, XM_005263930.2:c.*409_*410insATTCA, XM_005263930.1:c.*409_*410insATTCA, XM_011511118.3:c.*409_*410insATTCA, XM_011511118.2:c.*409_*410insATTCA, XM_011511118.1:c.*409_*410insATTCA, XM_011511115.3:c.*409_*410insATTCA, XM_011511115.2:c.*409_*410insATTCA, XM_011511115.1:c.*409_*410insATTCA, NM_001320980.2:c.*409_*410insATTCA, NM_001320980.1:c.*409_*410insATTCA, NM_001320982.2:c.*409_*410insATTCA, NM_001320982.1:c.*409_*410insATTCA, NM_001320978.2:c.*409_*410insATTCA, NM_001320978.1:c.*409_*410insATTCA, NM_001320981.2:c.*409_*410insATTCA, NM_001320981.1:c.*409_*410insATTCA, XM_011511116.2:c.*409_*410insATTCA, XM_011511116.1:c.*409_*410insATTCA, NM_001288706.2:c.*409_*410insATTCA, NM_001288706.1:c.*409_*410insATTCA, XM_047444180.1:c.*409_*410insATTCA, XM_047444179.1:c.*409_*410insATTCA, XM_047444178.1:c.*409_*410insATTCA, XM_047444181.1:c.*409_*410insATTCA, XM_047444183.1:c.*409_*410insATTCA, XM_047444177.1:c.*409_*410insATTCA, XM_047444176.1:c.*409_*410insATTCA, XM_047444182.1:c.*409_*410insATTCA, NM_001320983.1:c.*409_*410insATTCA, NM_001320985.1:c.*409_*410insATTCA, NM_001320984.1:c.*409_*410insATTCA

                  9.

                  rs1487049634 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    2:102178959 (GRCh38)
                    2:102795419 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:102178955:ACACA:ACA
                    Gene:
                    IL1R1 (Varview), IL1R1-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                    HGVS:
                    NC_000002.12:g.102178957CA[1], NC_000002.11:g.102795417CA[1], XM_005263934.5:c.*2198CA[1], XM_005263934.4:c.*2198CA[1], XM_005263934.3:c.*2198CA[1], XM_005263934.2:c.*2198CA[1], XM_005263934.1:c.*2198CA[1], NM_000877.4:c.*2198CA[1], NM_000877.3:c.*2198CA[1], NM_000877.2:c.*2198CA[1], XM_005263930.4:c.*2198CA[1], XM_005263930.3:c.*2198CA[1], XM_005263930.2:c.*2198CA[1], XM_005263930.1:c.*2198CA[1], XM_011511118.3:c.*2198CA[1], XM_011511118.2:c.*2198CA[1], XM_011511118.1:c.*2198CA[1], XM_011511115.3:c.*2198CA[1], XM_011511115.2:c.*2198CA[1], XM_011511115.1:c.*2198CA[1], NM_001320980.2:c.*2198CA[1], NM_001320980.1:c.*2198CA[1], NM_001320982.2:c.*2198CA[1], NM_001320982.1:c.*2198CA[1], NM_001320978.2:c.*2198CA[1], NM_001320978.1:c.*2198CA[1], NM_001320981.2:c.*2198CA[1], NM_001320981.1:c.*2198CA[1], XM_011511116.2:c.*2198CA[1], XM_011511116.1:c.*2198CA[1], NM_001288706.2:c.*2198CA[1], NM_001288706.1:c.*2198CA[1], XM_047444180.1:c.*2198CA[1], XM_047444179.1:c.*2198CA[1], XM_047444178.1:c.*2198CA[1], XM_047444181.1:c.*2198CA[1], XM_047444183.1:c.*2198CA[1], XM_047444177.1:c.*2198CA[1], XM_047444176.1:c.*2198CA[1], XM_047444182.1:c.*2198CA[1], NM_001320983.1:c.*2198CA[1], NM_001320985.1:c.*2198CA[1], NM_001320984.1:c.*2198CA[1]

                    10.

                    rs1485097895 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      2:102177013 (GRCh38)
                      2:102793473 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:102177012:C:A
                      Gene:
                      IL1R1 (Varview), IL1R1-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000002.12:g.102177013C>A, NC_000002.11:g.102793473C>A, XM_005263934.5:c.*254C>A, XM_005263934.4:c.*254C>A, XM_005263934.3:c.*254C>A, XM_005263934.2:c.*254C>A, XM_005263934.1:c.*254C>A, NM_000877.4:c.*254C>A, NM_000877.3:c.*254C>A, NM_000877.2:c.*254C>A, XM_005263930.4:c.*254C>A, XM_005263930.3:c.*254C>A, XM_005263930.2:c.*254C>A, XM_005263930.1:c.*254C>A, XM_011511118.3:c.*254C>A, XM_011511118.2:c.*254C>A, XM_011511118.1:c.*254C>A, XM_011511115.3:c.*254C>A, XM_011511115.2:c.*254C>A, XM_011511115.1:c.*254C>A, NM_001320980.2:c.*254C>A, NM_001320980.1:c.*254C>A, NM_001320982.2:c.*254C>A, NM_001320982.1:c.*254C>A, NM_001320978.2:c.*254C>A, NM_001320978.1:c.*254C>A, NM_001320981.2:c.*254C>A, NM_001320981.1:c.*254C>A, XM_011511116.2:c.*254C>A, XM_011511116.1:c.*254C>A, NM_001288706.2:c.*254C>A, NM_001288706.1:c.*254C>A, XM_047444180.1:c.*254C>A, XM_047444179.1:c.*254C>A, XM_047444178.1:c.*254C>A, XM_047444181.1:c.*254C>A, XM_047444183.1:c.*254C>A, XM_047444177.1:c.*254C>A, XM_047444176.1:c.*254C>A, XM_047444182.1:c.*254C>A, NM_001320983.1:c.*254C>A, NM_001320985.1:c.*254C>A, NM_001320984.1:c.*254C>A

                      11.

                      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

                        12.

                        rs1483710858 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:102178936 (GRCh38)
                          2:102795396 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:102178935:A:G
                          Gene:
                          IL1R1 (Varview), IL1R1-AS1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000002.12:g.102178936A>G, NC_000002.11:g.102795396A>G, XM_005263934.5:c.*2177A>G, XM_005263934.4:c.*2177A>G, XM_005263934.3:c.*2177A>G, XM_005263934.2:c.*2177A>G, XM_005263934.1:c.*2177A>G, NM_000877.4:c.*2177A>G, NM_000877.3:c.*2177A>G, NM_000877.2:c.*2177A>G, XM_005263930.4:c.*2177A>G, XM_005263930.3:c.*2177A>G, XM_005263930.2:c.*2177A>G, XM_005263930.1:c.*2177A>G, XM_011511118.3:c.*2177A>G, XM_011511118.2:c.*2177A>G, XM_011511118.1:c.*2177A>G, XM_011511115.3:c.*2177A>G, XM_011511115.2:c.*2177A>G, XM_011511115.1:c.*2177A>G, NM_001320980.2:c.*2177A>G, NM_001320980.1:c.*2177A>G, NM_001320982.2:c.*2177A>G, NM_001320982.1:c.*2177A>G, NM_001320978.2:c.*2177A>G, NM_001320978.1:c.*2177A>G, NM_001320981.2:c.*2177A>G, NM_001320981.1:c.*2177A>G, XM_011511116.2:c.*2177A>G, XM_011511116.1:c.*2177A>G, NM_001288706.2:c.*2177A>G, NM_001288706.1:c.*2177A>G, XM_047444180.1:c.*2177A>G, XM_047444179.1:c.*2177A>G, XM_047444178.1:c.*2177A>G, XM_047444181.1:c.*2177A>G, XM_047444183.1:c.*2177A>G, XM_047444177.1:c.*2177A>G, XM_047444176.1:c.*2177A>G, XM_047444182.1:c.*2177A>G, NM_001320983.1:c.*2177A>G, NM_001320985.1:c.*2177A>G, NM_001320984.1:c.*2177A>G

                          13.

                          rs1483387085 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:102178412 (GRCh38)
                            2:102794872 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:102178411:C:T
                            Gene:
                            IL1R1 (Varview), IL1R1-AS1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000002.12:g.102178412C>T, NC_000002.11:g.102794872C>T, XM_005263934.5:c.*1653C>T, XM_005263934.4:c.*1653C>T, XM_005263934.3:c.*1653C>T, XM_005263934.2:c.*1653C>T, XM_005263934.1:c.*1653C>T, NM_000877.4:c.*1653C>T, NM_000877.3:c.*1653C>T, NM_000877.2:c.*1653C>T, XM_005263930.4:c.*1653C>T, XM_005263930.3:c.*1653C>T, XM_005263930.2:c.*1653C>T, XM_005263930.1:c.*1653C>T, XM_011511118.3:c.*1653C>T, XM_011511118.2:c.*1653C>T, XM_011511118.1:c.*1653C>T, XM_011511115.3:c.*1653C>T, XM_011511115.2:c.*1653C>T, XM_011511115.1:c.*1653C>T, NM_001320980.2:c.*1653C>T, NM_001320980.1:c.*1653C>T, NM_001320982.2:c.*1653C>T, NM_001320982.1:c.*1653C>T, NM_001320978.2:c.*1653C>T, NM_001320978.1:c.*1653C>T, NM_001320981.2:c.*1653C>T, NM_001320981.1:c.*1653C>T, XM_011511116.2:c.*1653C>T, XM_011511116.1:c.*1653C>T, NM_001288706.2:c.*1653C>T, NM_001288706.1:c.*1653C>T, XM_047444180.1:c.*1653C>T, XM_047444179.1:c.*1653C>T, XM_047444178.1:c.*1653C>T, XM_047444181.1:c.*1653C>T, XM_047444183.1:c.*1653C>T, XM_047444177.1:c.*1653C>T, XM_047444176.1:c.*1653C>T, XM_047444182.1:c.*1653C>T, NM_001320983.1:c.*1653C>T, NM_001320985.1:c.*1653C>T, NM_001320984.1:c.*1653C>T

                            14.

                            rs1483033240 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              2:102178960 (GRCh38)
                              2:102795420 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:102178959:A:C,NC_000002.12:102178959:A:G
                              Gene:
                              IL1R1 (Varview), IL1R1-AS1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000002.12:g.102178960A>C, NC_000002.12:g.102178960A>G, NC_000002.11:g.102795420A>C, NC_000002.11:g.102795420A>G, XM_005263934.5:c.*2201A>C, XM_005263934.5:c.*2201A>G, XM_005263934.4:c.*2201A>C, XM_005263934.4:c.*2201A>G, XM_005263934.3:c.*2201A>C, XM_005263934.3:c.*2201A>G, XM_005263934.2:c.*2201A>C, XM_005263934.2:c.*2201A>G, XM_005263934.1:c.*2201A>C, XM_005263934.1:c.*2201A>G, NM_000877.4:c.*2201A>C, NM_000877.4:c.*2201A>G, NM_000877.3:c.*2201A>C, NM_000877.3:c.*2201A>G, NM_000877.2:c.*2201A>C, NM_000877.2:c.*2201A>G, XM_005263930.4:c.*2201A>C, XM_005263930.4:c.*2201A>G, XM_005263930.3:c.*2201A>C, XM_005263930.3:c.*2201A>G, XM_005263930.2:c.*2201A>C, XM_005263930.2:c.*2201A>G, XM_005263930.1:c.*2201A>C, XM_005263930.1:c.*2201A>G, XM_011511118.3:c.*2201A>C, XM_011511118.3:c.*2201A>G, XM_011511118.2:c.*2201A>C, XM_011511118.2:c.*2201A>G, XM_011511118.1:c.*2201A>C, XM_011511118.1:c.*2201A>G, XM_011511115.3:c.*2201A>C, XM_011511115.3:c.*2201A>G, XM_011511115.2:c.*2201A>C, XM_011511115.2:c.*2201A>G, XM_011511115.1:c.*2201A>C, XM_011511115.1:c.*2201A>G, NM_001320980.2:c.*2201A>C, NM_001320980.2:c.*2201A>G, NM_001320980.1:c.*2201A>C, NM_001320980.1:c.*2201A>G, NM_001320982.2:c.*2201A>C, NM_001320982.2:c.*2201A>G, NM_001320982.1:c.*2201A>C, NM_001320982.1:c.*2201A>G, NM_001320978.2:c.*2201A>C, NM_001320978.2:c.*2201A>G, NM_001320978.1:c.*2201A>C, NM_001320978.1:c.*2201A>G, NM_001320981.2:c.*2201A>C, NM_001320981.2:c.*2201A>G, NM_001320981.1:c.*2201A>C, NM_001320981.1:c.*2201A>G, XM_011511116.2:c.*2201A>C, XM_011511116.2:c.*2201A>G, XM_011511116.1:c.*2201A>C, XM_011511116.1:c.*2201A>G, NM_001288706.2:c.*2201A>C, NM_001288706.2:c.*2201A>G, NM_001288706.1:c.*2201A>C, NM_001288706.1:c.*2201A>G, XM_047444180.1:c.*2201A>C, XM_047444180.1:c.*2201A>G, XM_047444179.1:c.*2201A>C, XM_047444179.1:c.*2201A>G, XM_047444178.1:c.*2201A>C, XM_047444178.1:c.*2201A>G, XM_047444181.1:c.*2201A>C, XM_047444181.1:c.*2201A>G, XM_047444183.1:c.*2201A>C, XM_047444183.1:c.*2201A>G, XM_047444177.1:c.*2201A>C, XM_047444177.1:c.*2201A>G, XM_047444176.1:c.*2201A>C, XM_047444176.1:c.*2201A>G, XM_047444182.1:c.*2201A>C, XM_047444182.1:c.*2201A>G, NM_001320983.1:c.*2201A>C, NM_001320983.1:c.*2201A>G, NM_001320985.1:c.*2201A>C, NM_001320985.1:c.*2201A>G, NM_001320984.1:c.*2201A>C, NM_001320984.1:c.*2201A>G

                              15.

                              rs1481504022 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:102179003 (GRCh38)
                                2:102795463 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:102179002:C:T
                                Gene:
                                IL1R1 (Varview), IL1R1-AS1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000002.12:g.102179003C>T, NC_000002.11:g.102795463C>T, XM_005263934.5:c.*2244C>T, XM_005263934.4:c.*2244C>T, XM_005263934.3:c.*2244C>T, XM_005263934.2:c.*2244C>T, XM_005263934.1:c.*2244C>T, NM_000877.4:c.*2244C>T, NM_000877.3:c.*2244C>T, NM_000877.2:c.*2244C>T, XM_005263930.4:c.*2244C>T, XM_005263930.3:c.*2244C>T, XM_005263930.2:c.*2244C>T, XM_005263930.1:c.*2244C>T, XM_011511118.3:c.*2244C>T, XM_011511118.2:c.*2244C>T, XM_011511118.1:c.*2244C>T, XM_011511115.3:c.*2244C>T, XM_011511115.2:c.*2244C>T, XM_011511115.1:c.*2244C>T, NM_001320980.2:c.*2244C>T, NM_001320980.1:c.*2244C>T, NM_001320982.2:c.*2244C>T, NM_001320982.1:c.*2244C>T, NM_001320978.2:c.*2244C>T, NM_001320978.1:c.*2244C>T, NM_001320981.2:c.*2244C>T, NM_001320981.1:c.*2244C>T, XM_011511116.2:c.*2244C>T, XM_011511116.1:c.*2244C>T, NM_001288706.2:c.*2244C>T, NM_001288706.1:c.*2244C>T, XM_047444180.1:c.*2244C>T, XM_047444179.1:c.*2244C>T, XM_047444178.1:c.*2244C>T, XM_047444181.1:c.*2244C>T, XM_047444183.1:c.*2244C>T, XM_047444177.1:c.*2244C>T, XM_047444176.1:c.*2244C>T, XM_047444182.1:c.*2244C>T, NM_001320983.1:c.*2244C>T, NM_001320985.1:c.*2244C>T, NM_001320984.1:c.*2244C>T

                                16.

                                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

                                  17.

                                  rs1479468965 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    2:102176924 (GRCh38)
                                    2:102793384 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:102176923:A:C
                                    Gene:
                                    IL1R1 (Varview), IL1R1-AS1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.102176924A>C, NC_000002.11:g.102793384A>C, XM_005263934.5:c.*165A>C, XM_005263934.4:c.*165A>C, XM_005263934.3:c.*165A>C, XM_005263934.2:c.*165A>C, XM_005263934.1:c.*165A>C, NM_000877.4:c.*165A>C, NM_000877.3:c.*165A>C, NM_000877.2:c.*165A>C, XM_005263930.4:c.*165A>C, XM_005263930.3:c.*165A>C, XM_005263930.2:c.*165A>C, XM_005263930.1:c.*165A>C, XM_011511118.3:c.*165A>C, XM_011511118.2:c.*165A>C, XM_011511118.1:c.*165A>C, XM_011511115.3:c.*165A>C, XM_011511115.2:c.*165A>C, XM_011511115.1:c.*165A>C, NM_001320980.2:c.*165A>C, NM_001320980.1:c.*165A>C, NM_001320982.2:c.*165A>C, NM_001320982.1:c.*165A>C, NM_001320978.2:c.*165A>C, NM_001320978.1:c.*165A>C, NM_001320981.2:c.*165A>C, NM_001320981.1:c.*165A>C, XM_011511116.2:c.*165A>C, XM_011511116.1:c.*165A>C, NM_001288706.2:c.*165A>C, NM_001288706.1:c.*165A>C, XM_047444180.1:c.*165A>C, XM_047444179.1:c.*165A>C, XM_047444178.1:c.*165A>C, XM_047444181.1:c.*165A>C, XM_047444183.1:c.*165A>C, XM_047444177.1:c.*165A>C, XM_047444176.1:c.*165A>C, XM_047444182.1:c.*165A>C, NM_001320983.1:c.*165A>C, NM_001320985.1:c.*165A>C, NM_001320984.1:c.*165A>C

                                    18.

                                    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

                                      19.

                                      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

                                        20.

                                        rs1478607614 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,G [Show Flanks]
                                          Chromosome:
                                          2:102153991 (GRCh38)
                                          2:102770451 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:102153990:T:A,NC_000002.12:102153990:T:G
                                          Gene:
                                          IL1R1 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.00016/1 (1000Genomes)
                                          A=0.00068/2 (KOREAN)
                                          A=0.00124/21 (TOMMO)
                                          A=0.00218/4 (Korea1K)
                                          HGVS:
                                          NC_000002.12:g.102153991T>A, NC_000002.12:g.102153991T>G, NC_000002.11:g.102770451T>A, NC_000002.11:g.102770451T>G, XM_005263934.5:c.-134T>A, XM_005263934.5:c.-134T>G, XM_005263934.4:c.-134T>A, XM_005263934.4:c.-134T>G, XM_005263934.3:c.-134T>A, XM_005263934.3:c.-134T>G, XM_005263934.2:c.-134T>A, XM_005263934.2:c.-134T>G, XM_005263934.1:c.-134T>A, XM_005263934.1:c.-134T>G, NM_000877.4:c.-33T>A, NM_000877.4:c.-33T>G, NM_000877.3:c.-33T>A, NM_000877.3:c.-33T>G, NM_000877.2:c.-33T>A, NM_000877.2:c.-33T>G, XM_005263930.4:c.-33T>A, XM_005263930.4:c.-33T>G, XM_005263930.3:c.-33T>A, XM_005263930.3:c.-33T>G, XM_005263930.2:c.-33T>A, XM_005263930.2:c.-33T>G, XM_005263930.1:c.-33T>A, XM_005263930.1:c.-33T>G, XM_011511118.3:c.-30T>A, XM_011511118.3:c.-30T>G, XM_011511118.2:c.-30T>A, XM_011511118.2:c.-30T>G, XM_011511118.1:c.-30T>A, XM_011511118.1:c.-30T>G, XM_011511115.3:c.-33T>A, XM_011511115.3:c.-33T>G, XM_011511115.2:c.-33T>A, XM_011511115.2:c.-33T>G, XM_011511115.1:c.-33T>A, XM_011511115.1:c.-33T>G, NM_001320980.2:c.-33T>A, NM_001320980.2:c.-33T>G, NM_001320980.1:c.-33T>A, NM_001320980.1:c.-33T>G, NM_001320982.2:c.-33T>A, NM_001320982.2:c.-33T>G, NM_001320982.1:c.-33T>A, NM_001320982.1:c.-33T>G, NM_001320978.2:c.-33T>A, NM_001320978.2:c.-33T>G, NM_001320978.1:c.-33T>A, NM_001320978.1:c.-33T>G, NM_001320981.2:c.-33T>A, NM_001320981.2:c.-33T>G, NM_001320981.1:c.-33T>A, NM_001320981.1:c.-33T>G, XM_011511116.2:c.-33T>A, XM_011511116.2:c.-33T>G, XM_011511116.1:c.-33T>A, XM_011511116.1:c.-33T>G, NM_001288706.2:c.-33T>A, NM_001288706.2:c.-33T>G, NM_001288706.1:c.-33T>A, NM_001288706.1:c.-33T>G, NM_001320986.2:c.-33T>A, NM_001320986.2:c.-33T>G, NM_001320986.1:c.-33T>A, NM_001320986.1:c.-33T>G, XM_047444180.1:c.-631T>A, XM_047444180.1:c.-631T>G, XM_047444179.1:c.-134T>A, XM_047444179.1:c.-134T>G, XM_047444178.1:c.-131T>A, XM_047444178.1:c.-131T>G, XM_047444181.1:c.-530T>A, XM_047444181.1:c.-530T>G, XM_047444183.1:c.-527T>A, XM_047444183.1:c.-527T>G, XM_047444177.1:c.-33T>A, XM_047444177.1:c.-33T>G, XM_047444176.1:c.-33T>A, XM_047444176.1:c.-33T>G, XM_047444182.1:c.-398T>A, XM_047444182.1:c.-398T>G, NM_001320983.1:c.-398T>A, NM_001320983.1:c.-398T>G, NM_001320985.1:c.-569T>A, NM_001320985.1:c.-569T>G, NM_001320984.1:c.-392T>A, NM_001320984.1:c.-392T>G

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity