Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931593
rs28931593
GJB2
0.020 GeneticVariation BEFREE To the best of our knowledge, this is the first report from India on p.R75Q mutation in the GJB2 gene with nonsyndromic hearing loss. 25393658

2015
dbSNP: rs28931593
rs28931593
GJB2
0.020 GeneticVariation BEFREE Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. 15996214

2005