F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0038454
Disease:
Cerebrovascular accident
A 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
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0038454
Disease:
Cerebrovascular accident
A 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
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0038454
Disease:
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
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0038454
Disease:
Cerebrovascular accident
A 0.810 SusceptibilityMutation CLINVAR The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls. 19652888 2009
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0038454
Disease:
Cerebrovascular accident
A 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
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0038454
Disease:
Cerebrovascular accident
A 0.810 SusceptibilityMutation CLINVAR Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia. 11443298 2001
dbSNP: rs3136441
rs3136441
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0392885
Disease:
High density lipoprotein measurement
T 0.800 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
dbSNP: rs3136441
rs3136441
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0392885
Disease:
High density lipoprotein measurement
T 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs3136441
rs3136441
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0392885
Disease:
High density lipoprotein measurement
C 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs3136441
rs3136441
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0392885
Disease:
High density lipoprotein measurement
C 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs3136441
rs3136441
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0392885
Disease:
High density lipoprotein measurement
C 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs3136441
rs3136441
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0392885
Disease:
High density lipoprotein measurement
C 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C1861172
Disease:
Venous Thromboembolism
0.730 GeneticVariation BEFREE Our findings suggest that the risk of VTE by FHMI is not explained by rs8176719 (ABO), rs6025 (F5), rs1799963 (F2), rs2066865 (FGG), and rs2036914 (F11). 31124268 2019
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C1861172
Disease:
Venous Thromboembolism
A 0.730 GeneticVariation GWASCAT Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease. 31676865 2019
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C1861172
Disease:
Venous Thromboembolism
0.730 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C1861172
Disease:
Venous Thromboembolism
A 0.730 GeneticVariation GWASCAT Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor. 28373160 2017
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C1861172
Disease:
Venous Thromboembolism
A 0.730 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
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C1861172
Disease:
Venous Thromboembolism
A 0.730 GeneticVariation GWASCAT Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism. 25772935 2015
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C1861172
Disease:
Venous Thromboembolism
0.730 GeneticVariation BEFREE Factor V Leiden (FVL or rs6025) and prothrombin gene G20210A (PT or rs1799963) are the genetic variants currently tested for VTE risk assessment. 25341889 2014
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C1861172
Disease:
Venous Thromboembolism
0.730 GeneticVariation BEFREE Apart from F5 rs6025, ABO rs8176719, rs2519093 and F2 rs1799963, additional common and high VTE-risk SNPs among whites are unlikely. 22672568 2012
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0948008
Disease:
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
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0948008
Disease:
Ischemic stroke
A 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
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0948008
Disease:
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
dbSNP: rs3136516
rs3136516
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C1861172
Disease:
Venous Thromboembolism
G 0.700 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs776618390
rs776618390
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C4021097
Disease:
Reduced prothrombin activity
C 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019