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rs11746443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.19x risk of kidney stone in Japanese
(A;G) 1.19x risk of kidney stone in Japanese
(G;G) normal
ReferenceGRCh38 38.1/141
Chromosome5
Position177371305
GeneRGS14
is asnp
is mentioned by
dbSNPrs11746443
ebirs11746443
HLIrs11746443
Exacrs11746443
Varsomers11746443
Maprs11746443
PheGenIrs11746443
hapmaprs11746443
1000 genomesrs11746443
hgdprs11746443
ensemblrs11746443
gopubmedrs11746443
geneviewrs11746443
scholarrs11746443
googlers11746443
pharmgkbrs11746443
gwascentralrs11746443
openSNPrs11746443
23andMers11746443
23andMe allrs11746443
SNP Nexus

SNPshotrs11746443
SNPdbers11746443
MSV3drs11746443
GWAS Ctlgrs11746443
GMAF0.1933
Max Magnitude
? (A;A) (A;G) (G;G) 28
GWAS snp
PMID [PMID 22396660OA-icon.png]
Trait
Title A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
Risk Allele
P-val 9E-12
Odds Ratio 1.1900 None

Nephrolithiasis is a common nephrologic disorder with complex etiology. To identify the genetic factor(s) for nephrolithiasis, we conducted a three-stage genome-wide association study (GWAS) using a total of 5,892 nephrolithiasis cases and 17,809 controls of Japanese origin. Here we found three novel loci for nephrolithiasis: RGS14-SLC34A1-PFN3-F12 on 5q35.3 (rs11746443; P = 8.51×10−12, odds ratio (OR) = 1.19), INMT-FAM188B-AQP1 on 7p14.3 (rs1000597; P = 2.16×10−14, OR = 1.22), and DGKH on 13q14.1 (rs4142110; P = 4.62×10−9, OR = 1.14). Subsequent analyses in 21,842 Japanese subjects revealed the association of SNP rs11746443 with the reduction of estimated glomerular filtration rate (eGFR) (P = 6.54×10−8), suggesting a crucial role for this variation in renal function.