|
rs3020623
|
SERPINE1
|
Red Blood Cell Count measurement
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs3020623
|
SERPINE1
|
Body Height
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs2227700
|
SERPINE1
|
Triglycerides measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
rs1554362148
|
SERPINE1
|
Plasminogen Activator Inhibitor-1 Deficiency
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Life-threatening hemorrhage and prolonged wound healing are remarkable phenotypes manifested by complete plasminogen activator inhibitor-1 deficiency in humans.
|
21486382 |
2011 |
|
rs1194865614
|
SERPINE1
|
Plasminogen Activator Inhibitor-1 Deficiency
|
CTA |
0.700 |
CausalMutation |
CLINVAR |
Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation.
|
1435917 |
1992 |
|
rs1799762
|
SERPINE1
|
TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF
|
GGGG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs763351020
|
SERPINE1
|
Ischemic stroke
|
|
0.060 |
GeneticVariation |
BEFREE |
Clinical and genetic variables associated with ischaemic stroke were hypertension (P=.03), tobacco use (P=.02), and the polymorphisms Glu298Asp (genotype: P=.001, allele frequency: P=.001) and C677T (genotype: P=.01); the Ala147Thr, Thr325IIe, 4G/5G, and PLA1/A2 mutations were not associated with ischaemic stroke.
|
29526315 |
2018 |
|
rs763351020
|
SERPINE1
|
Ischemic stroke
|
|
0.060 |
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 |
|
rs763351020
|
SERPINE1
|
Ischemic stroke
|
|
0.060 |
GeneticVariation |
BEFREE |
Correlation with Platelet Parameters and Genetic Markers of Thrombophilia Panel (Factor II g.20210G>A, Factor V Leiden, MTHFR (C677T, A1298C), PAI-1, β-Fibrinogen, Factor XIIIA (V34L), Glycoprotein IIIa (L33P)) in Ischemic Strokes.
|
26951304 |
2016 |
|
rs763351020
|
SERPINE1
|
Ischemic stroke
|
|
0.060 |
GeneticVariation |
BEFREE |
Meta-analyses demonstrated positive associations with ischemic stroke for factor V Leiden Gln506, ACE I/D, MTHFR C677T, prothrombin G20210A, PAI-1 5G allele and glycoprotein IIIa Leu33Pro polymorphisms (ORs: 1.11 - 1.60).
|
20161734 |
2010 |
|
rs763351020
|
SERPINE1
|
Ischemic stroke
|
|
0.060 |
GeneticVariation |
BEFREE |
ACE D/I, MTHFR C677T, beta-Fg -455A/G, beta-Fg -148T/C, PAI-1 4G/5G, and ApoE epsilon2-4 were associated with risk of ischemic stroke in Han Chinese.
|
18511872 |
2008 |
|
rs763351020
|
SERPINE1
|
Ischemic stroke
|
|
0.060 |
GeneticVariation |
BEFREE |
To compare the distributions of mutations/polymorphisms in genes affecting hemostasis (factor V Leiden - FVL, FV H1298R-FVR2, FII 20210A, b-Fib 455G>A, FXIII V34L, PAI-1 4G, HPA-1b) or homocysteine metabolism (MTHFR C677T, MTHFR A1298C) among 90 children with arterial ischemic stroke (AIS) and 103 controls, and to associate the carriage of these mutations/polymorphisms with their corresponding proteins in children with AIS.
|
16567932 |
2006 |
|
rs763351020
|
SERPINE1
|
Factor V Leiden mutation
|
|
0.040 |
GeneticVariation |
BEFREE |
The -675 4G/5G PAI-1 allele distribution differed significantly between patients and controls (P = 0.020), but no difference was found regarding the distribution of -844 G/A PAI-1 (P = 0.493), FVL (P = 0.199), FIIG20210A (P = 0.410), FXIII-AVal34leu (P = 0.160) and C677T MTHFR (P = 0.788).
|
25699610 |
2015 |
|
rs763351020
|
SERPINE1
|
Factor V Leiden mutation
|
|
0.040 |
GeneticVariation |
BEFREE |
The homozygosity of 4G in PAI-1 and MTHFR C677T genes in women with RPL, and heterozygosity of FVL, FVR2, ACE, and ApoE2 genes in both parents play crucial role in RPL and should be considered as a risk factor in RPL.
|
22047507 |
2012 |
|
rs763351020
|
SERPINE1
|
Factor V Leiden mutation
|
|
0.040 |
GeneticVariation |
BEFREE |
Nine hundred and two DNA samples of consenting healthy Saudi individuals were tested for factor V Leiden (FVL), prothrombin (PT) 20210 G>A, 5-10 methylenetetrahydrofolate reductase (MTHFR) 677 C>T, the 4G/5G polymorphism of Plasminogen activator inhibitor type 1 (PAI-1 4G/5G), and factor V HR2 (FVHR2) haplotype.
|
19838435 |
2009 |
|
rs763351020
|
SERPINE1
|
Factor V Leiden mutation
|
|
0.040 |
GeneticVariation |
BEFREE |
Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor V HR2 haplotype), factor VII Arg353Gln, factor XIII Val34Leu, beta-fibrinogen -455G>A, prothrombin 20210G>A], coagulation inhibitors [tissue factor pathway inhibitor 536C>T, thrombomodulin 127G>A], fibrinolytic factors [angiotensin converting enzyme intron 16 insertion/deletion, factor VII-activating protease 1601G>A (FSAP Marburg I), plasminogen activator inhibitor 1-675 insertion/deletion (5G/4G), tissue plasminogen activator intron h deletion/insertion], and other factors implicated in influencing susceptibility to thromboembolic diseases [apolipoprotein E2/E3/E4, glycoprotein Ia 807C>T, methylenetetrahydrofolate reductase 677C>T] were included.
|
17003923 |
2006 |
|
rs763351020
|
SERPINE1
|
Cardiovascular Diseases
|
|
0.030 |
GeneticVariation |
BEFREE |
Thrombophilic profile (factor V G1691A (Leiden), factor V H1299R (R2), prothrombin G20210A, MTHFR C677T, MTHFR A1298C, factor XIII V34L, β-fibrinogen-455 G-A and plasminogen activator inhibitor (PAI)-1 4G/5G) was evaluated using the cardiovascular diseases (CVD) StripAssay based on DNA isolation, PCR and reverse hybridisation.
|
31300468 |
2019 |
|
rs763351020
|
SERPINE1
|
Cardiovascular Diseases
|
|
0.030 |
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 |
|
rs763351020
|
SERPINE1
|
Polycystic Ovary Syndrome
|
|
0.030 |
GeneticVariation |
BEFREE |
Meta-analysis showed no association between PCOS and the MTHFR 677C/T polymorphism using homozygote contrast, and recessive and dominant models.
|
24439532 |
2014 |
|
rs763351020
|
SERPINE1
|
Cardiovascular Diseases
|
|
0.030 |
GeneticVariation |
BEFREE |
Mutation analyses were conducted using the real-time polymerase chain reaction method to screen six common mutations (Factor V G1691A, PT G20210A, Factor XIII V34L, MTHFR A1298C and C677T and PAI-1 -675 4G/5G) found in CVD panel.
|
24532105 |
2014 |
|
rs763351020
|
SERPINE1
|
Venous Thromboembolism
|
|
0.030 |
GeneticVariation |
BEFREE |
Thus, frequencies of FV G1691A, PT G20210A, and MTHFR C677T mutations are higher in patients with VTE.
|
21078611 |
2012 |
|
rs763351020
|
SERPINE1
|
Thrombophilia
|
|
0.030 |
GeneticVariation |
BEFREE |
The authors used polymerase chain reaction (PCR) measures for thrombophilia (FVL, PTG, C677T-A1298C methylenetetrahydrofolate reductase [MTHFR], platelet glycoprotein PLA1A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G).
|
18796459 |
2009 |
|
rs763351020
|
SERPINE1
|
Polycystic Ovary Syndrome
|
|
0.030 |
GeneticVariation |
BEFREE |
No evidence was found for association of MTHFR C677T polymorphism with PCOS (OR for the TT+CT versus CC comparison equal to 0.940 with 95% CI 0.561, 1.575).
|
19066200 |
2009 |
|
rs763351020
|
SERPINE1
|
Venous Thromboembolism
|
|
0.030 |
GeneticVariation |
BEFREE |
MTHFR/ C677T in Chinese/Thai populations (OR 1.57; 95% CI 1.23-2.00, p = 0.0003), and ACE I/D in African American populations (OR 1.5; 95% CI 1.03-2.18, p = 0.03) were found to be significantly associated with VTE.
|
19652888 |
2009 |
|
rs763351020
|
SERPINE1
|
Thrombophilia
|
|
0.030 |
GeneticVariation |
BEFREE |
MTHFR C677T and hyperhomocysteinemia were more prevalent than other thrombophilias.
|
17688607 |
2007 |