Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908528
rs121908528
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I
A 0.700 CausalMutation CLINVAR Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. 9192270 1997