PLAT, plasminogen activator, tissue type, 5327

N. diseases: 392; N. variants: 7
Disease: Activated Protein C Resistance ×
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: rs777692567
rs777692567 		0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2002 2005