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: rs180177262
rs180177262
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		G 0.700 CausalMutation CLINVAR Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. 17460142 2007