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rs121908149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908149(C;T)
Make rs121908149(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position247424504
GeneNLRP3
is asnp
is mentioned by
dbSNPrs121908149
ebirs121908149
HLIrs121908149
Exacrs121908149
Varsomers121908149
Maprs121908149
PheGenIrs121908149
hapmaprs121908149
1000 genomesrs121908149
hgdprs121908149
ensemblrs121908149
gopubmedrs121908149
geneviewrs121908149
scholarrs121908149
googlers121908149
pharmgkbrs121908149
gwascentralrs121908149
openSNPrs121908149
23andMers121908149
23andMe allrs121908149
SNP Nexus

SNPshotrs121908149
SNPdbers121908149
MSV3drs121908149
GWAS Ctlgrs121908149
Max Magnitude0
OMIM606416
Desc
Variant0004
Relatedalso
OMIM120100
Desc
Variant
Relatedalso
ClinVar
Risk rs121908149(T;T)
Alt rs121908149(T;T)
Reference rs121908149(C;C)
Significance Pathogenic
Disease Familial amyloid nephropathy with urticaria AND deafness Familial cold urticaria
Variation info
Gene NLRP3
CLNDBN Familial amyloid nephropathy with urticaria AND deafness Familial cold urticaria
Reversed 0
HGVS NC_000001.10:g.247587806C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004621.3, RCV000084171.1,


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