Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754517968
rs754517968
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
CUI: C1864498
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE 		A 0.700 GeneticVariation CLINVAR Importance of early audiologic assessment in distal renal tubular acidosis. 23754897 2011
dbSNP: rs754517968
rs754517968
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
CUI: C1864498
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE 		A 0.700 GeneticVariation CLINVAR Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 16611712 2006