Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177157
rs180177157
AGXT
T 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: rs180177157
rs180177157
AGXT
T 0.800 GeneticVariation CLINVAR Rapid profiling of disease alleles using a tunable reporter of protein misfolding. 22923379

2012
dbSNP: rs180177157
rs180177157
AGXT
0.800 GeneticVariation UNIPROT Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. 22547750

2012
dbSNP: rs180177157
rs180177157
AGXT
T 0.800 GeneticVariation CLINVAR Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. 17495019

2007
dbSNP: rs180177157
rs180177157
AGXT
T 0.800 CausalMutation CLINVAR Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation. 15356974

2004
dbSNP: rs180177157
rs180177157
AGXT
T 0.800 GeneticVariation CLINVAR Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation. 15356974

2004