Gene: HPD ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852865
rs137852865
HPD
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
0.800 GeneticVariation UNIPROT Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. 10942115

2000
dbSNP: rs775747384
rs775747384
HPD ; LOC105370035
A 0.700 CausalMutation CLINVAR

dbSNP: rs137852865
rs137852865
HPD
C 0.800 CausalMutation CLINVAR

dbSNP: rs137852866
rs137852866
HPD
C 0.700 CausalMutation CLINVAR

dbSNP: rs137852867
rs137852867
HPD
C 0.700 CausalMutation CLINVAR

dbSNP: rs367674632
rs367674632
HPD ; LOC105370035
T 0.700 CausalMutation CLINVAR