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rs121908147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908147(A;A)
Make rs121908147(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position247424041
GeneNLRP3
is asnp
is mentioned by
dbSNPrs121908147
ebirs121908147
HLIrs121908147
Exacrs121908147
Varsomers121908147
Maprs121908147
PheGenIrs121908147
hapmaprs121908147
1000 genomesrs121908147
hgdprs121908147
ensemblrs121908147
gopubmedrs121908147
geneviewrs121908147
scholarrs121908147
googlers121908147
pharmgkbrs121908147
gwascentralrs121908147
openSNPrs121908147
23andMers121908147
23andMe allrs121908147
SNP Nexus

SNPshotrs121908147
SNPdbers121908147
MSV3drs121908147
GWAS Ctlgrs121908147
GMAF0.005051
Max Magnitude0
OMIM606416
Desc
Variant0002
Relatedalso
OMIM120100
Desc
Variant
Relatedalso
ClinVar
Risk rs121908147(A,C;A,C)
Alt rs121908147(A,C;A,C)
Reference rs121908147(G;G)
Significance Pathogenic
Disease Familial cold urticaria not provided
Variation info
Gene NLRP3
CLNDBN Familial cold urticaria not provided
Reversed 0
HGVS NC_000001.10:g.247587343G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004619.4, RCV000224634.1,


[PMID 12355493] Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.