ALDOB, aldolase, fructose-bisphosphate B, 229

N. diseases: 80; N. variants: 46
Disease: Hereditary fructose intolerance syndrome ×
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: rs1554702433
rs1554702433 		1.000 0.080 9 101425566 missense variant A/G snv
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 11 1988 2010