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: rs137853126
rs137853126 		1.000 0.120 5 134606993 missense variant C/A snv 7.0E-06
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0