rs767178508, GJB2

N. diseases: 5
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372 2004
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness. 14676473 2004
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. 20022641 2010