SERPINE1, serpin family E member 1, 5054

N. diseases: 770; N. variants: 23
Disease: Factor V Leiden mutation ×
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: C0584960
Disease:
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
dbSNP: rs763351020
rs763351020
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0584960
Disease:
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
dbSNP: rs763351020
rs763351020
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0584960
Disease:
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
dbSNP: rs763351020
rs763351020
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0584960
Disease:
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