F11, coagulation factor XI, 2160

N. diseases: 100; N. variants: 139
Disease: Hereditary Factor XI 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: rs28934608
rs28934608 		0.925 0.160 4 186280333 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 21 1989 2019