rs1799963
NM_000506.5(F2):c.*97G>A
- Congenital prothrombin deficiencyPathogenic · ★★ · germline
- Thrombophilia due to thrombin defect (THPH1)Pathogenic · ★★ · germline
- Ischemic strokePathogenic · ★ · germline
- Pregnancy loss, recurrent, susceptibility to, 2 (RPRGL2)Pathogenic · ★ · germline
- Cerebral palsyRisk factor · ★ · unknown
- Venous thromboembolismRisk factor · ★ · germline
- Ischemic strokeRisk factor · germline
- Pregnancy loss, recurrent, susceptibility to, 2 (RPRGL2)Risk factor · germline
- Thrombophilia caused by F2 prothrombin deficiencyEstablished risk allele · unknown
- not providedLikely pathogenic · ★★ · germline
gnomAD allele frequency 8.44e-3
rs1799963 is a genetic variant located in the F2 gene. dbsnp · gene
In gnomAD, rs1799963 has an overall allele frequency of 0.84%. gnomad · frequency
In ClinVar, rs1799963 is classified as Pathogenic (low penetrance) for Congenital prothrombin deficiency (2 review stars, germline; last evaluated 2025-02-02). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1799963 is classified as Pathogenic for Thrombophilia due to thrombin defect (THPH1) (2 review stars, germline; last evaluated 2024-10-09). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1799963 is classified as Pathogenic for Ischemic stroke (1 review star, germline; last evaluated 2024-04-09). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1799963 is classified as Pathogenic for Pregnancy loss, recurrent, susceptibility to, 2 (RPRGL2) (1 review star, germline; last evaluated 2024-04-09). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1799963 is classified as Risk factor for Cerebral palsy (1 review star; last evaluated 2021-06-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1799963 is classified as Risk factor for Venous thromboembolism (1 review star, germline; last evaluated 2019-12-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1799963 is classified as Risk factor for Ischemic stroke (0 review stars, germline; last evaluated 2009-06-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1799963 is classified as Risk factor for Pregnancy loss, recurrent, susceptibility to, 2 (RPRGL2) (0 review stars, germline; last evaluated 2009-06-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1799963 is classified as Established risk allele (risk factor) for Thrombophilia caused by F2 prothrombin deficiency (0 review stars). clinvar · classificationclinvar · review confidence
In ClinVar, rs1799963 is classified as Likely pathogenic for not provided (2 review stars, germline; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 2542aaf373d1c3eb · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.