rs6749447
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | slightly higher blood pressure if Caucasian | |
| (G;T) | slightly higher blood pressure if Caucasian | |
| (T;T) | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 168184876 |
| Gene | STK39 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6749447 |
| dbSNP (classic) | rs6749447 |
| ClinGen | rs6749447 |
| ebi | rs6749447 |
| HLI | rs6749447 |
| Exac | rs6749447 |
| Gnomad | rs6749447 |
| Varsome | rs6749447 |
| LitVar | rs6749447 |
| Map | rs6749447 |
| PheGenI | rs6749447 |
| Biobank | rs6749447 |
| 1000 genomes | rs6749447 |
| hgdp | rs6749447 |
| ensembl | rs6749447 |
| geneview | rs6749447 |
| scholar | rs6749447 |
| rs6749447 | |
| pharmgkb | rs6749447 |
| gwascentral | rs6749447 |
| openSNP | rs6749447 |
| 23andMe | rs6749447 |
| SNPshot | rs6749447 |
| SNPdbe | rs6749447 |
| MSV3d | rs6749447 |
| GWAS Ctlg | rs6749447 |
| GMAF | 0.4619 |
| Max Magnitude | 0 |
| ? | (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 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 |
[PMID 20003416] 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.
[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 23408757] Association between Serine/Threonine Kinase 39 Gene Polymorphism, Hypertension, and Other Cardiovascular Risk Factors in Koreans
[PMID 28945285] Association of with-no-lysine kinase 1 and Serine/Threonine kinase 39 gene polymorphisms and haplotypes with essential hypertension in Tibetans.
