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rs1799963 F2

Prothrombin G20210A homozygous. Significantly increased thrombosis risk.

Curated · human-reviewed Health risk · Risk / effect allele: A · dbSNP

What is rs1799963?

rs1799963 is a single-nucleotide polymorphism (SNP) in the F2 gene (Coagulation factor II (prothrombin)). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as AA. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs1799963 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
AAhighProthrombin G20210A homozygous. Significantly increased thrombosis risk.93%
GA / AGelevatedProthrombin G20210A heterozygous. 2-5x increased VTE risk.90%
GGtypical / lowerNormal prothrombin. Typical clotting risk.93%

How common is the A allele of rs1799963?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European1.2%
East Asian0.1%
African0.1%
South Asian0.5%
Admixed American0.8%
Global0.6%

Which drugs have annotations for rs1799963?

PharmGKB clinical annotations (level 1A is the strongest evidence, 4 the weakest):

DrugAnnotation typeEvidence level
hormonal contraceptives for systemic useToxicity2B

Is rs1799963 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.