Gene: CDH23 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033271
rs111033271
CDH23
A 0.700 CausalMutation CLINVAR Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). 15353998

2004
dbSNP: rs111033271
rs111033271
CDH23
A 0.700 CausalMutation CLINVAR Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. 12522556

2003
dbSNP: rs111033271
rs111033271
CDH23
A 0.700 CausalMutation CLINVAR CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. 12075507

2002