rs180177267, AGXT

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.700 GeneticVariation CLINVAR Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. 17460142 2007
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.700 GeneticVariation CLINVAR The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. 15963748 2006
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.700 CausalMutation CLINVAR The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1. 15110324 2004
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.700 GeneticVariation CLINVAR The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1. 15110324 2004