Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516679
rs1057516679
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 GeneticVariation CLINVAR [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. 23225041

2012