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rs121908151

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908151(C;C)
Make rs121908151(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position247425154
GeneNLRP3
is asnp
is mentioned by
dbSNPrs121908151
ebirs121908151
HLIrs121908151
Exacrs121908151
Varsomers121908151
Maprs121908151
PheGenIrs121908151
hapmaprs121908151
1000 genomesrs121908151
hgdprs121908151
ensemblrs121908151
gopubmedrs121908151
geneviewrs121908151
scholarrs121908151
googlers121908151
pharmgkbrs121908151
gwascentralrs121908151
openSNPrs121908151
23andMers121908151
23andMe allrs121908151
SNP Nexus

SNPshotrs121908151
SNPdbers121908151
MSV3drs121908151
GWAS Ctlgrs121908151
Max Magnitude0
OMIM606416
Desc
Variant0006
Relatedalso
OMIM120100
Desc
Variant
Relatedalso
ClinVar
Risk rs121908151(C;C)
Alt rs121908151(C;C)
Reference rs121908151(G;G)
Significance Pathogenic
Disease not provided Familial amyloid nephropathy with urticaria AND deafness Familial cold urticaria
Variation info
Gene NLRP3
CLNDBN not provided Familial amyloid nephropathy with urticaria AND deafness Familial cold urticaria
Reversed 0
HGVS NC_000001.10:g.247588456G>A; NC_000001.10:g.247588456G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000217528.1, RCV000004624.3, RCV000084204.1,


[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.