Disease: Primary hyperoxaluria, type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177184
rs180177184
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		A 0.700 CausalMutation CLINVAR Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1. 24934730 2014
dbSNP: rs180177184
rs180177184
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		T 0.700 CausalMutation CLINVAR Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. 19479957 2009