Rs6749447

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dbSNPrs6749447
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SNP Nexus

GeneSTK39
Chromosome2
Orientationplus
Position168749631
GenotypeEffect
rs6749447(G;G)slightly higher blood pressure if Caucasian
rs6749447(G;T)slightly higher blood pressure if Caucasian
rs6749447(T;T)normal


Genotypes Magnitude Summary
Rs6749447(G;G) slightly higher blood pressure if Caucasian
Rs6749447(G;T) slightly higher blood pressure if Caucasian
Rs6749447(T;T) normal

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

? (G;G) (G;T) (T;T)
GWAS snp
PMID [PMID 19114657]
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
PharmGKBPA164740097
Name
AnnotationGWAS results: Whole-genome association study identifies STK39 as a hypertension susceptibility gene. (Initial Sample Size: 542 individuals; Replication Sample Size: 6,583 individuals); (Region: 2q24.3; Reported Gene(s): STK39; Risk Allele: rs6749447-G); (p-value= 0.0000002).This variant is associated with Blood pressure.
GeneSTK39
Featue
EvidencePubMed ID:19114657; Web Resource:http://www.genome.gov/gwastudies/
Drugs
Diseases
Curation LevelNon-Curated