Disease: Chylomicron retention disease ×
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: rs121917846
rs121917846 		1.000 0.120 5 134621002 splice acceptor variant C/T snv
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 3 2003 2009