Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908150(C;T)
Make rs121908150(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position247424227
GeneNLRP3
is asnp
is mentioned by
dbSNPrs121908150
ebirs121908150
HLIrs121908150
Exacrs121908150
Varsomers121908150
Maprs121908150
PheGenIrs121908150
hapmaprs121908150
1000 genomesrs121908150
hgdprs121908150
ensemblrs121908150
gopubmedrs121908150
geneviewrs121908150
scholarrs121908150
googlers121908150
pharmgkbrs121908150
gwascentralrs121908150
openSNPrs121908150
23andMers121908150
23andMe allrs121908150
SNP Nexus

SNPshotrs121908150
SNPdbers121908150
MSV3drs121908150
GWAS Ctlgrs121908150
Max Magnitude0
OMIM606416
Desc
Variant0005
Relatedalso
OMIM120100
Desc
Variant
Relatedalso
ClinVar
Risk rs121908150(T;T)
Alt rs121908150(T;T)
Reference rs121908150(C;C)
Significance Pathogenic
Disease Familial amyloid nephropathy with urticaria AND deafness Familial cold urticaria not provided
Variation info
Gene NLRP3
CLNDBN Familial amyloid nephropathy with urticaria AND deafness Familial cold urticaria not provided
Reversed 0
HGVS NC_000001.10:g.247587529C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004622.3, RCV000004623.4, RCV000221297.1,


[PMID 11992256OA-icon.png] New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.