Disease: Bile acid synthesis defect, congenital, 2 ×
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: rs121918343
rs121918343 		1.000 0.120 7 138091822 missense variant C/T snv 4.0E-06
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 4 2003 2010