|(A;A)||6.7||6.7x increased risk of venous thromboembolism|
|(A;G)||2.8||2.8x increased risk of venous thromboembolism|
The publicly-recognized name for this SNP is rs1799963.
In a 2013 meta-analysis of 31 databases, the analysis of i3002432 (PT20210A or prothrombin or Factor 2) was based on 9,134 cases and 17,606 controls. The average AG variant risk for Venous Thromboembolism was 2.8, and risk was higher for younger subjects ((< 45 years old, OR: 3.19; ≥ 45 years old, OR: 2.57) and for women taking oral contraceptives (women not using OCs, OR: 2.73; women using OCs, OR: 5.58). Further analysis by outcome revealed that more the risk for Cerebral venous sinus thrombosis was highest at 4.4 (based on 303 cases and 2,723 controls), whereas for Venous thromboembolism OR was 3.0, and for Venous thrombosis (w\o pulmonary embolism) OR 2.6. The AA risk was 6.74, but since homozygotes are rare, the OR was based on only 28 subjects among cases and 4 controls. A larger risk was seen in rs6025 Factor V Leiden SNP variants. [PMID 23900608]
In addition to the literature associating the G20210A variant with thromboembolism in general, several studies have found that this variant significantly (2 - 20 fold) increases the risk for ischemic stroke (aka cerebral ischemia) in individuals with patent foramen ovale (PFO), or hole in the heart. It is estimated that PFO is present in ~25% of the (normal/healthy) population. [PMID 19404532] and [PMID 22784820]
See many more references listed at its alias SNP page rs1799963
See the related SNP rs6025 for further discussion.