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-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
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
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: rs144241592
rs144241592
HPD
CUI: C0005890
Disease: Body Height
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

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

dbSNP: rs367674632
rs367674632
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria
T 0.700 CausalMutation CLINVAR

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

dbSNP: rs775747384
rs775747384
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria
A 0.700 CausalMutation CLINVAR