Disease: Primary hyperoxaluria, type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553648488
rs1553648488
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		ACACTG 0.700 CausalMutation CLINVAR Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. 27935012 2017
dbSNP: rs1553648488
rs1553648488
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0268164
Disease:
Primary hyperoxaluria, type I 		ACACTG 0.700 CausalMutation CLINVAR A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation. 27659337 2016