rs28937896

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs28937896(C;C)

Make rs28937896(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

247424507

Gene

NLRP3

is a	snp
is	mentioned by
dbSNP	rs28937896
dbSNP (classic)	rs28937896
ClinGen	rs28937896
ebi	rs28937896
HLI	rs28937896
Exac	rs28937896
Gnomad	rs28937896
Varsome	rs28937896
LitVar	rs28937896
Map	rs28937896
PheGenI	rs28937896
Biobank	rs28937896
1000 genomes	rs28937896
hgdp	rs28937896
ensembl	rs28937896
geneview	rs28937896
scholar	rs28937896
google	rs28937896
pharmgkb	rs28937896
gwascentral	rs28937896
openSNP	rs28937896
23andMe	rs28937896
SNPshot	rs28937896
SNPdbe	rs28937896
MSV3d	rs28937896
GWAS Ctlg	rs28937896

Max Magnitude

0

OMIM	606416
Desc	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME
Variant	0010
Related	also

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	RCV000004629.5, RCV000219571.2,

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