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: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.010 1.000 1 2009 2009