rs74315289, BSND

N. diseases: 5
Disease: Congenital deafness ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital deafness
CUI: C0339789
Disease: Congenital deafness
0.010 GeneticVariation BEFREE The patient was affected with congenital deafness, which urged us to analyze his gene for barttin, and a mutation G47R, which was previously reported, has been identified. 12574213 2003