Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121965064
rs121965064
F11
0.925 0.080 4 186280258 missense variant T/C snv 1.1E-03 6.4E-04
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.810 1.000 26 1989 2019
dbSNP: rs121965064
rs121965064
F11
0.925 0.080 4 186280258 missense variant T/C snv 1.1E-03 6.4E-04
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.010 1.000 1 2008 2008
dbSNP: rs121965064
rs121965064
F11
0.925 0.080 4 186280258 missense variant T/C snv 1.1E-03 6.4E-04
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 1.000 1 2008 2008