rs6046
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (T;T) | 2.8 | better blood pressure, lower risk of myocardial infarction |
| Make rs6046(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 113118845 |
| Gene | F7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6046 |
| dbSNP (classic) | rs6046 |
| ClinGen | rs6046 |
| ebi | rs6046 |
| HLI | rs6046 |
| Exac | rs6046 |
| Gnomad | rs6046 |
| Varsome | rs6046 |
| LitVar | rs6046 |
| Map | rs6046 |
| PheGenI | rs6046 |
| Biobank | rs6046 |
| 1000 genomes | rs6046 |
| hgdp | rs6046 |
| ensembl | rs6046 |
| geneview | rs6046 |
| scholar | rs6046 |
| rs6046 | |
| pharmgkb | rs6046 |
| gwascentral | rs6046 |
| openSNP | rs6046 |
| 23andMe | rs6046 |
| SNPshot | rs6046 |
| SNPdbe | rs6046 |
| MSV3d | rs6046 |
| GWAS Ctlg | rs6046 |
| GMAF | 0.09412 |
| Max Magnitude | 2.8 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19404551] Association of genetic variants with myocardial infarction in Japanese individuals with chronic kidney disease
[PMID 19415820
] The effect of nine common polymorphisms in coagulation factor genes (F2, F5, F7, F12 and F13 ) on the effectiveness of statins: the GenHAT study
[PMID 19336475] Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk
[PMID 20031567] An Evaluation of Candidate Genes of Inflammation and Thrombosis in Relation to the Risk of Venous Thromboembolism: The Women's Genome Health Study
[PMID 21291465] The association of genetic polymorphisms with cerebral palsy: a meta-analysis
| ClinVar | |
|---|---|
| Risk | rs6046(A;A) rs6046(G;G) Rs6046(T;T) |
| Alt | rs6046(A;A) rs6046(G;G) Rs6046(T;T) |
| Reference | Rs6046(C;C) |
| Significance | Other |
| Disease | Myocardial infarction not specified Factor X deficiency Factor VII deficiency |
| Variation | info |
| Gene | F7 |
| CLNDBN | Myocardial infarction, decreased susceptibility to not specified Factor X deficiency Factor VII deficiency |
| Reversed | 1 |
| HGVS | NC_000013.10:g.113773159G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012861.3, RCV000250547.1, RCV000391182.1, RCV000396014.1, |
[PMID 16846490] Lemierre's syndrome and genetic polymorphisms: a case report.
[PMID 17048007] Association of warfarin dose with genes involved in its action and metabolism.
[PMID 17903294] Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
[PMID 18403734] Polymorphisms in platelet glycoprotein 1balpha and factor VII and risk of ischemic stroke: a meta-analysis.
[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 20735728] Haplotype and genotype effects of the F7 gene on circulating factor VII, coagulation activation markers and incident coronary heart disease in UK men.
[PMID 21114618] Association of coagulation-related and inflammation-related genes and factor VIIc levels with stroke: the Cardiovascular Health Study.
[PMID 22815813] Functional epistatic interaction between rs6046G>A in F7 and rs5355C>T in SELE modifies systolic blood pressure levels
[PMID 23298194] Epistatic study reveals two genetic interactions in blood pressure regulation
