Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315289
rs74315289
BSND
CUI: C0339789
Disease: Congenital deafness
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