Gene: SERPINE1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554362148
rs1554362148
SERPINE1
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
dbSNP: rs1194865614
rs1194865614
SERPINE1
CTA 0.700 CausalMutation CLINVAR Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation. 1435917

1992