Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517972
rs1057517972
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		G 0.700 GeneticVariation CLINVAR Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy. 24016420

2013
dbSNP: rs1057517972
rs1057517972
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		G 0.700 GeneticVariation CLINVAR Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1. 22802474

2010
dbSNP: rs1057517972
rs1057517972
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		G 0.700 GeneticVariation CLINVAR Gene symbol: FAH. Disease: tyrosinaemia 1. 16521249

2005