Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908526
rs121908526
AGXT
0.800 GeneticVariation UNIPROT A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1. 1301173

1992
dbSNP: rs121908526
rs121908526
AGXT
0.800 GeneticVariation UNIPROT A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1. 1349575

1992
dbSNP: rs121908526
rs121908526
AGXT
0.800 GeneticVariation UNIPROT Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. 2039493

1991