|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The prothrombotic polymorphisms factor V Leiden (rs6025) and prothrombin G20210A (rs1799963) were not associated with breast cancer.
|
25407022 |
2014 |
|
Cardiovascular Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD).
|
27629735 |
2016 |
|
Cerebrovascular accident
|
|
0.810 |
SusceptibilityMutation
|
CLINVAR |
Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia.
|
11443298 |
2001 |
|
Cerebrovascular accident
|
|
0.810 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
|
26908601 |
2016 |
|
Cerebrovascular accident
|
|
0.810 |
SusceptibilityMutation
|
CLINVAR |
The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations.
|
15059842 |
2004 |
|
Cerebrovascular accident
|
|
0.810 |
GeneticVariation
|
BEFREE |
In multinomial multivariate adjusted analysis, rs1799963 was exclusively associated with undetermined stroke (OR: 3.67; 95% CI: 1.52-8.85; p = 0.004).
|
25897999 |
2015 |
|
Cerebrovascular accident
|
|
0.810 |
SusceptibilityMutation
|
CLINVAR |
Prevalence and Geographical Variation of Prothrombin G20210A Mutation in Patients with Cerebral Vein Thrombosis: A Systematic Review and Meta-Analysis.
|
27031503 |
2016 |
|
Cerebrovascular accident
|
|
0.810 |
SusceptibilityMutation
|
CLINVAR |
The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls.
|
19652888 |
2009 |
|
Deep Vein Thrombosis
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
|
26908601 |
2016 |
|
Factor V Leiden mutation
|
|
0.010 |
GeneticVariation
|
BEFREE |
To assess Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), and MTHFR A1298C (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP).
|
27018927 |
2016 |
|
Fetal Growth Retardation
|
|
0.010 |
GeneticVariation
|
BEFREE |
A combination of alleles G of rs1799963, A of rs6046, and G of rs1800790 (OR = 0.31) reduces the risk of FGR.
|
28544373 |
2017 |
|
Hemophilia A
|
|
0.010 |
GeneticVariation
|
BEFREE |
Influence of factor 5 rs6025 and factor 2 rs1799963 mutation on inhibitor development in patients with hemophilia A--an Israeli-German multicenter database study.
|
24485400 |
2014 |
|
Hereditary factor II deficiency disease
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Inherited Factor II deficiency
|
|
0.700 |
CausalMutation
|
CLINVAR |
Geographic distribution of the 20210 G to A prothrombin variant.
|
9569177 |
1998 |
|
Inherited Factor II deficiency
|
|
0.700 |
CausalMutation
|
CLINVAR |
Thrombophilia: 2009 update.
|
19289024 |
2009 |
|
Ischemic stroke
|
|
0.720 |
GeneticVariation
|
BEFREE |
A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD).
|
27629735 |
2016 |
|
Ischemic stroke
|
|
0.720 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
|
26908601 |
2016 |
|
Ischemic stroke
|
|
0.720 |
GeneticVariation
|
BEFREE |
We evaluated the differences in the distribution of rs6025 and rs1799963 polymorphisms according to IS subtypes and their interaction with smoking.
|
25897999 |
2015 |
|
Juvenile Myoclonic Epilepsy
|
|
0.010 |
GeneticVariation
|
BEFREE |
These results present no evidence for an association of rs1799963 with JME.
|
25992517 |
2015 |
|
Lupus Erythematosus, Systemic
|
|
0.010 |
GeneticVariation
|
BEFREE |
While the rs1799963 A allele was almost absent in African Americans, it was present at ~2% frequency in Caucasian Americans and showed no significant association with SLE.
|
21239755 |
2011 |
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
The prothrombotic polymorphisms factor V Leiden (rs6025) and prothrombin G20210A (rs1799963) were not associated with breast cancer.
|
25407022 |
2014 |
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
We compared the incidence of cancer diagnosis during follow-up among cohort women positive for antiphospholipid antibodies (n=517), cohort women carrying the F5 rs6025 or F2 rs1799963 polymorphism (n=279) and cohort women with negative thrombophilia screening results (n=796).
|
31101755 |
2020 |
|
Myocardial Infarction
|
|
0.010 |
GeneticVariation
|
BEFREE |
Prothrombin G20210A (rs1799963) polymorphism increases myocardial infarction risk in an age-related manner: A systematic review and meta-analysis.
|
29051591 |
2017 |
|
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
We compared the incidence of cancer diagnosis during follow-up among cohort women positive for antiphospholipid antibodies (n=517), cohort women carrying the F5 rs6025 or F2 rs1799963 polymorphism (n=279) and cohort women with negative thrombophilia screening results (n=796).
|
31101755 |
2020 |