Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177253
rs180177253
AGXT
0.800 GeneticVariation UNIPROT Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. 22547750

2012
dbSNP: rs180177253
rs180177253
AGXT
T 0.800 GeneticVariation CLINVAR Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I. 22018727

2012
dbSNP: rs180177253
rs180177253
AGXT
T 0.800 GeneticVariation CLINVAR Pre-emptive liver transplantation for primary hyperoxaluria (PH-I) arrests long-term renal function deterioration. 20573805

2011
dbSNP: rs180177253
rs180177253
AGXT
T 0.800 GeneticVariation CLINVAR Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. 18282470

2008
dbSNP: rs180177253
rs180177253
AGXT
T 0.800 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: rs180177253
rs180177253
AGXT
T 0.800 CausalMutation CLINVAR The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. 15963748

2006
dbSNP: rs180177253
rs180177253
AGXT
T 0.800 GeneticVariation CLINVAR Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations. 16971151

2006
dbSNP: rs180177253
rs180177253
AGXT
T 0.800 GeneticVariation CLINVAR Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1. 12899834

2003