Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750741137
rs750741137
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		C 0.700 GeneticVariation CLINVAR Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. 22554029

2012