Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908523
rs121908523
Entrez Id: 189
Gene Symbol: AGXT
AGXT
CUI: C0027709
Disease:
Nephrocalcinosis
A 0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018