{{Rsnum
|rsid=121908147
|Gene=NLRP3
|Chromosome=1
|position=247424041
|Orientation=plus
|GMAF=0.005051
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=NLRP3
}}{{omim
|id=606416
|rsnum=121908147
|variant=0002
}}
{{omim
|id=120100
|rsnum=121908147
}}{{ClinVar
|rsid=121908147
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=247587343
|CHROM=1
|GMAF=0.005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000040016110100
|GENEINFO=NLRP3:114548
|GENE_NAME=NLRP3
|GENE_ID=114548
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.10:g.247587343G>A
|CLNSRC=OMIM Allelic Variant; UnitÃ© mÃ©dicale des maladies autoinflammatoires
|CLNORIGIN=1
|CLNSRCID=606416.0002; 122
|CLNSIG=5
|CLNCUI=C0343068
|CLNDBN=Familial cold urticaria
|Disease=Familial cold urticaria
|CLNACC=RCV000004619.1
|Tags=PM;PMC;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9949; 0.005051
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0343068:120100:47045:238687000
|COMMON=1
}}{{PMID Auto
|PMID=12355493
|Title=Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.
}}