Disease: Primary hyperoxaluria type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908525
rs121908525
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268165
Disease:
Primary hyperoxaluria type 2 		0.010 GeneticVariation BEFREE Polymerase chain reaction (PCR) was used to detect three common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) and one, c.103delG, in the GRHPR gene in DNA samples from 365 unrelated individuals referred for diagnosis of PH1 and/or PH2 by liver enzyme analysis. 15327387 2004