Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894409
rs104894409
T 0.700 CausalMutation CLINVAR Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. 24774219

2014

dbSNP: rs104894409
rs104894409
T 0.700 CausalMutation CLINVAR Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. 23668481

2013

dbSNP: rs104894409
rs104894409
T 0.700 CausalMutation CLINVAR A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 18472371

2008

dbSNP: rs104894409
rs104894409
T 0.700 CausalMutation CLINVAR A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. 17660464

2007