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: rs180177166
rs180177166
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		GCA 0.700 GeneticVariation CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080 2015
dbSNP: rs180177166
rs180177166
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		GCA 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
dbSNP: rs180177166
rs180177166
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		GCA 0.700 CausalMutation CLINVAR The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. 15963748 2006