VAX2, ventral anterior homeobox 2, 25806

N. diseases: 15; N. variants: 16
Disease: Nephrocalcinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964880
rs121964880
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0027709
Disease:
Nephrocalcinosis 		C 0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018