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rs13333226

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 common but slightly higher risk for hypertension
(A;G) 1.1 slightly lower risk for hypertension
(G;G) 1.2 ~15-20% lower risk for hypertension or cardiovascular events
ReferenceGRCh38 38.1/141
Chromosome16
Position20354332
GeneUMOD
is asnp
is mentioned by
dbSNPrs13333226
ebirs13333226
HLIrs13333226
Exacrs13333226
Varsomers13333226
Maprs13333226
PheGenIrs13333226
hapmaprs13333226
1000 genomesrs13333226
hgdprs13333226
ensemblrs13333226
gopubmedrs13333226
geneviewrs13333226
scholarrs13333226
googlers13333226
pharmgkbrs13333226
gwascentralrs13333226
openSNPrs13333226
23andMers13333226
23andMe allrs13333226
SNP Nexus

SNPshotrs13333226
SNPdbers13333226
MSV3drs13333226
GWAS Ctlgrs13333226
GMAF0.1965
Max Magnitude1.2
rs13333226 is a SNP in the 5' region of uromodulin UMOD gene.

A large GWAS study ultimately totaling over 20,000 cases and almost as many controls concluded that, compared to the far more common allele, the rarer rs13333226(G) allele is associated with a (slightly) lower risk of hypertension (odds ratio 0.87, CI: 0.84-0.91) as well as a 7.7% reduction per allele for risk of cardiovascular events after adjusting for age, sex, BMI, and smoking status (hazard ratio?0.923, CI: 0.860-0.991; p?=?0.027). [PMID 21082022OA-icon.png]

? (A;A) (A;G) (G;G) 28
[PMID 19465746OA-icon.png] Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.


[PMID 21738052] Uromodulin gene variant is associated with type 2 diabetic nephropathy.

High Blood Pressure (Hypertension)

Kidney Disease


ClinVar
Risk rs13333226(G;G)
Alt rs13333226(G;G)
Reference rs13333226(A;A)
Significance Other
Disease Essential hypertension
Variation info
Gene UMOD
CLNDBN Essential hypertension
Reversed 0
HGVS NC_000016.9:g.20365654A>G
CLNSRC
CLNACC RCV000203590.1,