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rs6427196

From SNPedia

Orientationplus
Stabilizedplus
Make rs6427196(C;C)
Make rs6427196(C;G)
Make rs6427196(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position169511985
GeneF5
is asnp
is mentioned by
dbSNPrs6427196
ebirs6427196
HLIrs6427196
Exacrs6427196
Varsomers6427196
Maprs6427196
PheGenIrs6427196
hapmaprs6427196
1000 genomesrs6427196
hgdprs6427196
ensemblrs6427196
gopubmedrs6427196
geneviewrs6427196
scholarrs6427196
googlers6427196
pharmgkbrs6427196
gwascentralrs6427196
openSNPrs6427196
23andMers6427196
23andMe allrs6427196
SNP Nexus

SNPshotrs6427196
SNPdbers6427196
MSV3drs6427196
GWAS Ctlgrs6427196
GMAF0.07897
Max Magnitude
? (C;C) (C;G) (G;G) 28
rs6427196 is located in the F5/NME7 region on chromosome 1q24.2 at position 167747847. This SNP is in the 3’ untranslated region of F5. F5, also known as coagulation factor V (proaccelerin, lavile factor), encodes an essential cofactor of the blood coagulation cascade and defects in this gene have been known to result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia. Recently, this SNP has been found to be associated with venous thromboembolism (VTE). VTE, which can manifest itself as either deep venous thromboembolism (DVT) or pulmonary embolism (PE), is a common cardiovascular condition with a high mortality rate [PMID 23650146OA-icon.png]. Annually, ~2 million adults develop DVT and approximately 600,000 PE hospitalizations and 60,000 deaths occur [PMID 8925592].

In a study done by Tang et al.[PMID 23650146OA-icon.png], a two-stage genome-wide association study (GWAS) was conducted by first analyzing the top SNP associations for total incident VTE in CHARGE (cohorts for heart and aging research in genomic epidemiology) and then the second-stage studies were performed using data from three case-control studies: the Mayo Clinic VTE Study, the MARseille Thrombosis Association VTE Study, and a French case-control study on early-onset VT. In the CHARGE GWAS, 1,618 VTE cases were included from 44,499 participants, all of which were of European origin. From that, the top 1,047 SNPs identified as having the greatest association were analyzed in 3,231 VTE cases and 3,536 controls.

The initial CHARGE GWAS revealed that the rs6427196 G minor allele had a risk ratio (RR) of 1.82 with a 95% confidence interval (CI) of 1.58 to 2.10. The p-value of this association was 1.97 x 10-16. The second-stage analysis gave a RR of 2.31 with a 95% CI of 2.04 to 2.62 and a p-value of 2.56 x 10-38. At this point, all the studies were combined to give an overall RR and p-value which indicated rs6427196 as the highest associated SNP with VTE. The overall RR was 2.07 (95% CI = 1.89 – 2.28) and a p-value of 4.47 x 10-51.