rs1800595
A SNP in the F5 gene on chromosome 1. Its most notable genotype is T;T: common in clinvar
- Gene
- F5
- Location
- Chr 1169,541,110 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs1800595 on the minus strand: (A;A), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other F5 SNPs
- rs6025T;T11.4x higher risk of thrombosisVery important
- rs118203905C;CHemophilia A (severity varies)Very important
- rs118203906G;GHemophilia A (severity varies)Very important
- rs118203907C;CHemophilia A (severity varies)Very important
- rs118203908A;AHemophilia A (severity varies)Very important
- rs118203909A;AHemophilia A (severity varies)Very important
- rs118203910A;AHemophilia A (severity varies)Very important
- rs118203911G;GHemophilia A (severity varies)Very important
Genosets
Genosets combine several genotypes. Twofold checks them in your report.
Notes
From SNPedia
Show notes, about 350 words
This polymorphism is also known as Factor V HR2, H1299R, His1299Arg (due to the resulting change from Histidine to Arginine in the protein) and A4070G (due to the allele being G instead of A). Research shows that is related to the more commonly known "Factor V Leiden" mutation rs6025 . "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
Source and license
Adapted from rs1800595 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.