rs28931593, GJB2

N. diseases: 9
Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
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
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
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