Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177197
rs180177197
AGXT
C 0.800 GeneticVariation CLINVAR Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria. 24718375

2014
dbSNP: rs180177197
rs180177197
AGXT
C 0.800 GeneticVariation CLINVAR Rapid profiling of disease alleles using a tunable reporter of protein misfolding. 22923379

2012
dbSNP: rs180177197
rs180177197
AGXT
C 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: rs180177197
rs180177197
AGXT
C 0.800 GeneticVariation CLINVAR Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants. 18448374

2008
dbSNP: rs180177197
rs180177197
AGXT
C 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: rs180177197
rs180177197
AGXT
C 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: rs180177197
rs180177197
AGXT
C 0.800 GeneticVariation CLINVAR Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel. 15961946

2005
dbSNP: rs180177197
rs180177197
AGXT
C 0.800 GeneticVariation CLINVAR Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. 15464418

2005
dbSNP: rs180177197
rs180177197
AGXT
C 0.800 GeneticVariation CLINVAR Primary hyperoxaluria: genotype-phenotype correlation. 12768081

2003
dbSNP: rs180177197
rs180177197
AGXT
C 0.800 GeneticVariation CLINVAR AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. 11562405

2001
dbSNP: rs180177197
rs180177197
AGXT
C 0.800 CausalMutation CLINVAR Identification of new mutations in primary hyperoxaluria type 1 (PH1). 9604803

1998
dbSNP: rs180177197
rs180177197
AGXT
C 0.800 GeneticVariation CLINVAR Identification of new mutations in primary hyperoxaluria type 1 (PH1). 9604803

1998
dbSNP: rs180177197
rs180177197
AGXT
0.800 GeneticVariation UNIPROT