SERPINE1, serpin family E member 1, 5054

N. diseases: 770; N. variants: 23
Disease: Cardiovascular Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763351020
rs763351020
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0007222
Disease:
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
dbSNP: rs763351020
rs763351020
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0007222
Disease:
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
dbSNP: rs763351020
rs763351020
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0007222
Disease:
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