rs3736309

plus

Geno	Mag	Summary
(A;A)		normal
(A;G)	2	0.44x decreased risk for chronic obstructive pulmonary lung disease
(G;G)	2	0.44x decreased risk for chronic obstructive pulmonary lung disease

Reference

GRCh38 38.1/141

Chromosome

12

Position

49964271

Gene	AQP5, LOC101927318, LOC105369764

is a	snp
is	mentioned by
dbSNP	rs3736309
dbSNP (classic)	rs3736309
ClinGen	rs3736309
ebi	rs3736309
HLI	rs3736309
Exac	rs3736309
Gnomad	rs3736309
Varsome	rs3736309
LitVar	rs3736309
Map	rs3736309
PheGenI	rs3736309
Biobank	rs3736309
1000 genomes	rs3736309
hgdp	rs3736309
ensembl	rs3736309
geneview	rs3736309
scholar	rs3736309
google	rs3736309
pharmgkb	rs3736309
gwascentral	rs3736309
openSNP	rs3736309
23andMe	rs3736309
SNPshot	rs3736309
SNPdbe	rs3736309
MSV3d	rs3736309
GWAS Ctlg	rs3736309

GMAF

0.1561

Max Magnitude

2

?

(A;A) (A;G) (G;G)

28

rs3736309 is a SNP in the aquaporin 5 (AQP5) gene. Among other roles, the aquaporin proteins play a critical role in the maintenance of normal lung water homeostasis.

A study of 332 Chinese Han Chronic obstructive pulmonary disease (COPD) patients and 373 unrelated, age-matched controls concluded that carriers of a rs3736309(G) allele had a lower risk of COPD than rs3736309(A;A) carriers, with an odds ratio of 0.44 (CI: 0.307-0.631). [PMID 18853286]

[PMID 23352976] Polymorphisms in genes encoding aquaporins 4 and 5 and estrogen receptor alpha in patients with Meniere's disease and sudden sensorineural hearing loss.