Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763982675
rs763982675
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
CUI: C1864498
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
A 0.700 GeneticVariation CLINVAR Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. 27247958 2016
dbSNP: rs763982675
rs763982675
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
CUI: C1864498
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
A 0.700 GeneticVariation CLINVAR Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis. 26208211 2016