Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177239
rs180177239
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: rs180177239
rs180177239
AGXT
A 0.800 GeneticVariation CLINVAR Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa. 23810941

2013
dbSNP: rs180177239
rs180177239
AGXT
0.800 GeneticVariation UNIPROT Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. 22547750

2012
dbSNP: rs180177239
rs180177239
AGXT
A 0.800 GeneticVariation CLINVAR Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. 18282470

2008
dbSNP: rs180177239
rs180177239
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: rs180177239
rs180177239
AGXT
A 0.800 CausalMutation CLINVAR Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group. 10541294

1999
dbSNP: rs180177239
rs180177239
AGXT
A 0.800 GeneticVariation CLINVAR Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group. 10541294

1999
dbSNP: rs180177239
rs180177239
AGXT
A 0.800 GeneticVariation CLINVAR Identification of new mutations in primary hyperoxaluria type 1 (PH1). 9604803

1998
dbSNP: rs180177239
rs180177239
AGXT
A 0.800 CausalMutation CLINVAR Identification of new mutations in primary hyperoxaluria type 1 (PH1). 9604803

1998