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rs28937896

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28937896(C;C)
Make rs28937896(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position247424507
GeneNLRP3
is asnp
is mentioned by
dbSNPrs28937896
ebirs28937896
HLIrs28937896
Exacrs28937896
Varsomers28937896
Maprs28937896
PheGenIrs28937896
hapmaprs28937896
1000 genomesrs28937896
hgdprs28937896
ensemblrs28937896
gopubmedrs28937896
geneviewrs28937896
scholarrs28937896
googlers28937896
pharmgkbrs28937896
gwascentralrs28937896
openSNPrs28937896
23andMers28937896
23andMe allrs28937896
SNP Nexus

SNPshotrs28937896
SNPdbers28937896
MSV3drs28937896
GWAS Ctlgrs28937896
Max Magnitude0
OMIM606416
DescFAMILIAL COLD AUTOINFLAMMATORY SYNDROME
Variant0010
Relatedalso


ClinVar
Risk rs28937896(C;C)
Alt rs28937896(C;C)
Reference rs28937896(T;T)
Significance Pathogenic
Disease Familial cold urticaria not provided
Variation info
Gene NLRP3
CLNDBN Familial cold urticaria not provided
Reversed 0
HGVS NC_000001.10:g.247587809T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004629.4, RCV000219571.1,



[PMID 12522564] Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.