rs41281039, ALDOB

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary fructose intolerance syndrome
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
0.010 GeneticVariation BEFREE Here we report two novel ALDOB variants (p.R46W and p.Y343H) and an intragenic deletion that we found in patients with suspected HFI. 20848650 2010