Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177207
rs180177207
AGXT
A 0.800 GeneticVariation CLINVAR Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. 24988064

2014
dbSNP: rs180177207
rs180177207
AGXT
0.800 GeneticVariation UNIPROT Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. 22547750

2012
dbSNP: rs180177207
rs180177207
AGXT
A 0.800 GeneticVariation CLINVAR Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. 17460142

2007
dbSNP: rs180177207
rs180177207
AGXT
A 0.800 GeneticVariation CLINVAR AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. 11562405

2001
dbSNP: rs180177207
rs180177207
AGXT
A 0.800 CausalMutation CLINVAR Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. 10453743

1999
dbSNP: rs180177207
rs180177207
AGXT
A 0.800 GeneticVariation CLINVAR Gene symbol: AGXT. Disease: primary hyperoxaluria type I. 10394939

1999
dbSNP: rs180177207
rs180177207
AGXT
A 0.800 GeneticVariation CLINVAR Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. 10453743

1999