rs72474224, GJB2

N. diseases: 18
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 We concluded that p.Met34Thr and p.Val37Ile variants in GJB2 are pathogenic for autosomal recessive nonsyndromic hearing loss with variable expressivity and incomplete penetrance. 31160754 2019
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
0.020 GeneticVariation BEFREE The c.235delC mutation showed a particularly wide spectrum of hearing loss, from mild to profound and significantly better hearing thresholds at 250 Hz and 2k Hz than in the non-p.V37I and non-235delC nonsyndromic hearing loss and deafness 1(DFNB1) subjects. 26061264 2015