SERPINE1, serpin family E member 1, 5054

N. diseases: 770; N. variants: 23
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: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.040 0.750 4 2006 2015
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
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 2019 2019