Have questions? Visit https://www.reddit.com/r/SNPedia

rs1800595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 Normal
Make rs1800595(A;A)
Make rs1800595(A;G)
Make rs1800595(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position169541110
GeneF5
is asnp
is mentioned by
dbSNPrs1800595
ebirs1800595
HLIrs1800595
Exacrs1800595
Varsomers1800595
Maprs1800595
PheGenIrs1800595
hapmaprs1800595
1000 genomesrs1800595
hgdprs1800595
ensemblrs1800595
gopubmedrs1800595
geneviewrs1800595
scholarrs1800595
googlers1800595
pharmgkbrs1800595
gwascentralrs1800595
openSNPrs1800595
23andMers1800595
23andMe allrs1800595
SNP Nexus

SNPshotrs1800595
SNPdbers1800595
MSV3drs1800595
GWAS Ctlgrs1800595
Max Magnitude0
"Factor V Leiden is present in 5% to 7% of the general population and 20% to 40% of individuals with venous thrombosis. The factor V R2 polymorphism is associated with decreased levels of factor V and it significantly increases risk of venous thrombosis in individuals who are heterozygous for the factor V Leiden mutation. Coexistence of the R2 polymorphism rs1800595 with factor V Leiden rs6025 increases the risk for venous thrombosis approximately to a 16-fold increased risk. The average age of the first thrombotic event is six years younger in individuals who are heterozygous for both factor V Leiden and the R2 polymorphism than in those with factor V Leiden alone. The R2 polymorphism is common in the general population, with one copy (heterozygous) in 10% of individuals. Among patients with venous thrombosis, approximately 12% are heterozygous for the R2 polymorphism." labcorp

"Factor V HR2 Allele, DNA Mutation Analysis is useful in patients who are carriers of Factor V Mutation (Leiden). Coinheritance of Factor V Mutation (Leiden) is associated with a 3-4-fold increased risk of venous thrombosis compared to inheritance of Factor V Mutation (Leiden) alone." http://www.questdiagnostics.com/testcenter/TestDetail.action?ntc=17902

"Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (Factor V Leiden) and His1299Arg substitutions in Factor V." http://onlinelibrary.wiley.com/doi/10.1046/j.1365-2141.1997.3993213.x/pdf

"Coinheritance of the HR2 Haplotype in the Factor V Gene Confers an Increased Risk of Venous Thromboembolism to Carriers of Factor V R506Q (Factor V Leiden)." http://www.bloodjournal.org/content/94/9/3062?sso-checked=1

Table 1: R2 Haplotype SNPs. http://th.schattauer.de/de/contents/archive/issue/special/manuscript/8580/download.html