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rs4686484

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.2 slightly increased risk for celiac disease
(A;G) 0 neutral/common
(G;G) 1.2 slightly decreased risk for celiac disease
ReferenceGRCh38 38.1/141
Chromosome3
Position188400784
GeneLPP
is asnp
is mentioned by
dbSNPrs4686484
dbSNP (classic)rs4686484
ClinGenrs4686484
ebirs4686484
HLIrs4686484
Exacrs4686484
Gnomadrs4686484
Varsomers4686484
LitVarrs4686484
Maprs4686484
PheGenIrs4686484
Biobankrs4686484
1000 genomesrs4686484
hgdprs4686484
ensemblrs4686484
geneviewrs4686484
scholarrs4686484
googlers4686484
pharmgkbrs4686484
gwascentralrs4686484
openSNPrs4686484
23andMers4686484
SNPshotrs4686484
SNPdbers4686484
MSV3drs4686484
GWAS Ctlgrs4686484
GMAF0.3797
Max Magnitude1.2

rs4686484 is a SNP in the LPP gene. The LPP protein is involved in cell motility and cell–cell adhesion, which is crucial to maintaining the barrier integrity of epithelial monolayers such as those in the small intestine.

A study of several populations eventually settled on rs4686484 as the SNP most likely to be the functional variant at the heart of the haplotypes associated with altered risk for celiac disease. The rarer rs4686484(G) allele is less common in patients than in healthy controls, and it is therefore thought to have a (slight) protective role, leading to reduced risk for the disorder.[PMID 24334606OA-icon.png]