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rs121908153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908153(A;A)
Make rs121908153(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position247424356
GeneNLRP3
is asnp
is mentioned by
dbSNPrs121908153
ebirs121908153
HLIrs121908153
Exacrs121908153
Varsomers121908153
Maprs121908153
PheGenIrs121908153
hapmaprs121908153
1000 genomesrs121908153
hgdprs121908153
ensemblrs121908153
gopubmedrs121908153
geneviewrs121908153
scholarrs121908153
googlers121908153
pharmgkbrs121908153
gwascentralrs121908153
openSNPrs121908153
23andMers121908153
23andMe allrs121908153
SNP Nexus

SNPshotrs121908153
SNPdbers121908153
MSV3drs121908153
GWAS Ctlgrs121908153
Max Magnitude0
OMIM606416
Desc
Variant0008
Relatedalso
OMIM120100
Desc
Variant
Relatedalso
ClinVar
Risk rs121908153(A,C;A,C)
Alt rs121908153(A,C;A,C)
Reference rs121908153(G;G)
Significance Pathogenic
Disease Chronic infantile neurological Familial amyloid nephropathy with urticaria AND deafness Familial cold urticaria not provided
Variation info
Gene NLRP3
CLNDBN Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold urticaria not provided
Reversed 0
HGVS NC_000001.10:g.247587658G>A; NC_000001.10:g.247587658G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004626.2, RCV000004627.3, RCV000084240.1, RCV000214348.1, RCV000084241.1,


[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.