HPSE, heparanase, 10855

N. diseases: 393; N. variants: 12
Disease: Factor V Leiden mutation ×
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: rs144246695
rs144246695 		0.851 0.160 4 83310887 missense variant G/A snv 8.0E-06
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012