SERPINE1, serpin family E member 1, 5054

N. diseases: 770; N. variants: 23
Disease: Plasminogen Activator Inhibitor-1 Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1194865614
rs1194865614
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C2750067
Disease:
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