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rs6046

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/141
Chromosome13
Position113118845
GeneF7
is asnp
is mentioned by
dbSNPrs6046
ClinGenrs6046
ebirs6046
HLIrs6046
Exacrs6046
Varsomers6046
Maprs6046
PheGenIrs6046
hapmaprs6046
1000 genomesrs6046
hgdprs6046
ensemblrs6046
gopubmedrs6046
geneviewrs6046
scholarrs6046
googlers6046
pharmgkbrs6046
gwascentralrs6046
openSNPrs6046
23andMers6046
23andMe allrs6046
SNP Nexus

SNPshotrs6046
SNPdbers6046
MSV3drs6046
GWAS Ctlgrs6046
GMAF0.09412
Max Magnitude2.8
? (C;C) (C;T) (T;T) 28
OMIM227500
DescMYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO
Variant0014
Relatedalso
[PMID 19404551] Association of genetic variants with myocardial infarction in Japanese individuals with chronic kidney disease

[PMID 19415820OA-icon.png] 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 19336475OA-icon.png] Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk

[PMID 20031567OA-icon.png] 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
Variation info
Gene F7
CLNDBN Myocardial infarction, decreased susceptibility to not specified
Reversed 1
HGVS NC_000013.10:g.113773159G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012861.3, RCV000250547.1,



[PMID 16846490OA-icon.png] Lemierre's syndrome and genetic polymorphisms: a case report.


[PMID 17048007OA-icon.png] Association of warfarin dose with genes involved in its action and metabolism.


[PMID 17903294OA-icon.png] 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 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.


[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.


[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.


[PMID 20735728OA-icon.png] Haplotype and genotype effects of the F7 gene on circulating factor VII, coagulation activation markers and incident coronary heart disease in UK men.


[PMID 21114618OA-icon.png] Association of coagulation-related and inflammation-related genes and factor VIIc levels with stroke: the Cardiovascular Health Study.


GET Evidence
F7-R413Q
aa_change Arg413Gln
aa_change_short R413Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0806452
summary



[PMID 22815813OA-icon.png] Functional epistatic interaction between rs6046G>A in F7 and rs5355C>T in SELE modifies systolic blood pressure levels


[PMID 23298194OA-icon.png] Epistatic study reveals two genetic interactions in blood pressure regulation