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

rs10754558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs10754558(C;C)
Make rs10754558(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position247448734
GeneNLRP3
is asnp
is mentioned by
dbSNPrs10754558
dbSNP (old)rs10754558
ClinGenrs10754558
ebirs10754558
HLIrs10754558
Exacrs10754558
Gnomadrs10754558
Varsomers10754558
Maprs10754558
PheGenIrs10754558
Biobankrs10754558
1000 genomesrs10754558
hgdprs10754558
ensemblrs10754558
gopubmedrs10754558
geneviewrs10754558
scholarrs10754558
googlers10754558
pharmgkbrs10754558
gwascentralrs10754558
openSNPrs10754558
23andMers10754558
23andMe allrs10754558
SNP Nexus

SNPshotrs10754558
SNPdbers10754558
MSV3drs10754558
GWAS Ctlgrs10754558
GMAF0.3558
Max Magnitude0
? (C;C) (C;G) (G;G) 28
[PMID 20502346] A 3'UTR SNP in NLRP3 Gene is Associated With Susceptibility to HIV-1 Infection


[PMID 21245836] The Missense Variation Q705K in CIAS1/NALP3/NLRP3 Gene and an NLRP1 Haplotype Are Associated With Celiac Disease


[PMID 16642435OA-icon.png] Cis- and trans-acting gene regulation is associated with osteoarthritis.


[PMID 18576390OA-icon.png] Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.


[PMID 19767079] Associations of functional NLRP3 polymorphisms with susceptibility to food-induced anaphylaxis and aspirin-induced asthma.


[PMID 20370570] Two SNPs in NLRP3 gene are involved in the predisposition to type-1 diabetes and celiac disease in a pediatric population from northeast Brazil.


[PMID 22227487] Polymorphisms in inflammasome' genes and susceptibility to HIV-1 infection.


[PMID 24901306OA-icon.png] The NOD-like receptor signalling pathway in Helicobacter pylori infection and related gastric cancer: a case-control study and gene expression analyses


[PMID 26689701] A Polymorphism Within the 3'UTR of NLRP3 is Associated with Susceptibility for Ischemic Stroke in Chinese Population.


ClinVar
Risk rs10754558(C;C) rs10754558(T;T)
Alt rs10754558(C;C) rs10754558(T;T)
Reference Rs10754558(G;G)
Significance Non-pathogenic
Disease Chronic infantile neurological Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome
Variation info
Gene NLRP3
CLNDBN Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome
Reversed 0
HGVS NC_000001.10:g.247612036G>C
CLNSRC
CLNACC RCV000284662.1, RCV000339908.1, RCV000379007.1,