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rs1000597

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;G) 1.22x risk of kidney stone in Japanese
(G;G) 1.22x risk of kidney stone in Japanese
ReferenceGRCh38 38.1/141
Chromosome7
Position30897563
is asnp
is mentioned by
dbSNPrs1000597
ebirs1000597
HLIrs1000597
Exacrs1000597
Varsomers1000597
Maprs1000597
PheGenIrs1000597
hapmaprs1000597
1000 genomesrs1000597
hgdprs1000597
ensemblrs1000597
gopubmedrs1000597
geneviewrs1000597
scholarrs1000597
googlers1000597
pharmgkbrs1000597
gwascentralrs1000597
openSNPrs1000597
23andMers1000597
23andMe allrs1000597
SNP Nexus

SNPshotrs1000597
SNPdbers1000597
MSV3drs1000597
GWAS Ctlgrs1000597
GMAF0.1208
Max Magnitude0
? (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 2E-14
Odds Ratio 1.2200 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.