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rs6749447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) slightly higher blood pressure if Caucasian
(G;T) slightly higher blood pressure if Caucasian
(T;T) normal
ReferenceGRCh38 38.1/141
Chromosome2
Position168184876
GeneSTK39
is asnp
is mentioned by
dbSNPrs6749447
ebirs6749447
HLIrs6749447
Exacrs6749447
Varsomers6749447
Maprs6749447
PheGenIrs6749447
hapmaprs6749447
1000 genomesrs6749447
hgdprs6749447
ensemblrs6749447
gopubmedrs6749447
geneviewrs6749447
scholarrs6749447
googlers6749447
pharmgkbrs6749447
gwascentralrs6749447
openSNPrs6749447
23andMers6749447
23andMe allrs6749447
SNP Nexus

SNPshotrs6749447
SNPdbers6749447
MSV3drs6749447
GWAS Ctlgrs6749447
GMAF0.4619
Max Magnitude
? (G;G) (G;T) (T;T) 28
rs6749447 is a SNP in the serine threonine kinase 39 STK39 gene.

A study of ~1,000 Amish originally identified rs6749447 and another SNP also in the STK39 gene, rs3754777, as being significantly associated with hypertension. This association was then found to also hold in patient data analyzed from the Framingham Heart Study and the Diabetes Genetics Initiative. On average, each minor allele, in this case rs6749447(G), is associated with 2.0 mmHg higher systolic blood pressure and a 1.0 mm Hg higher diastolic pressure.10.1073/pnas.0808358106

GWAS snp
PMID [PMID 19114657OA-icon.png]
Trait Blood pressure
Title Whole-genome association study identifies STK39 as a hypertension susceptibility gene
Risk Allele G
P-val 2E-7
Odds Ratio 1.90 [1.2-2.6] mm Hg increase in DBP


[PMID 20003416OA-icon.png] STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression


[PMID 21993215] STK39 variation predicts the ambulatory blood pressure response to losartan in hypertensive men

[PMID 21228780] Novel genetic variations associated with salt sensitivity in the Korean population.


GET Evidence
rs6749447
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.484375
summary



[PMID 23151749] Lack of association between STK39 and hypertension in the Chinese population


[PMID 23235358] A functional variant in the serine-threonine kinase coding gene is associated with hypertension: a case-control study in a Finnish population, the Tampere adult population cardiovascular risk study


[PMID 23408757OA-icon.png] Association between Serine/Threonine Kinase 39 Gene Polymorphism, Hypertension, and Other Cardiovascular Risk Factors in Koreans