Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852865
rs137852865
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.800 GeneticVariation UNIPROT Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. 11073718

2000
dbSNP: rs137852865
rs137852865
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.800 GeneticVariation UNIPROT Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. 10942115

2000
dbSNP: rs137852865
rs137852865
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		C 0.800 CausalMutation CLINVAR

dbSNP: rs137852866
rs137852866
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		C 0.700 CausalMutation CLINVAR

dbSNP: rs137852867
rs137852867
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		C 0.700 CausalMutation CLINVAR

dbSNP: rs367674632
rs367674632
HPD ; LOC105370035
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		T 0.700 CausalMutation CLINVAR

dbSNP: rs775747384
rs775747384
HPD ; LOC105370035
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		A 0.700 CausalMutation CLINVAR