SERPINE1, serpin family E member 1, 5054

N. diseases: 770; N. variants: 23
Disease: Plasminogen Activator Inhibitor-1 Deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1194865614
rs1194865614 		1.000 0.040 7 101132065 splice donor variant -/TA delins 4.0E-06
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 1 1992 1992
dbSNP: rs1554362148
rs1554362148 		1.000 0.040 7 101130504 frameshift variant -/C delins
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011