Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1247460110
rs1247460110
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 GeneticVariation CLINVAR Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. 23895425

2014