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rs121908148

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908148(A;G)
Make rs121908148(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position247425329
GeneNLRP3
is asnp
is mentioned by
dbSNPrs121908148
ebirs121908148
HLIrs121908148
Exacrs121908148
Varsomers121908148
Maprs121908148
PheGenIrs121908148
hapmaprs121908148
1000 genomesrs121908148
hgdprs121908148
ensemblrs121908148
gopubmedrs121908148
geneviewrs121908148
scholarrs121908148
googlers121908148
pharmgkbrs121908148
gwascentralrs121908148
openSNPrs121908148
23andMers121908148
23andMe allrs121908148
SNP Nexus

SNPshotrs121908148
SNPdbers121908148
MSV3drs121908148
GWAS Ctlgrs121908148
Max Magnitude0
OMIM606416
Desc
Variant0003
Relatedalso
OMIM120100
Desc
Variant
Relatedalso
ClinVar
Risk rs121908148(G;G)
Alt rs121908148(G;G)
Reference rs121908148(A;A)
Significance Pathogenic
Disease Familial cold urticaria
Variation info
Gene NLRP3
CLNDBN Familial cold urticaria
Reversed 0
HGVS NC_000001.10:g.247588631A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004620.4,


[PMID 11687797OA-icon.png] Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.