Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729667
rs794729667
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C2675730
Disease:
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.710 GeneticVariation BEFREE We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. 31257146 2019
dbSNP: rs794729667
rs794729667
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C2675730
Disease:
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		T 0.710 CausalMutation CLINVAR