Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760352870
rs760352870
SLC26A4
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.010 GeneticVariation BEFREE Here, we report a novel synonymous mutation (c.1803G>A, p.Lys601Lys), that caused aberrant splicing in two Korean family members who were clinically considered to have DFNB4, along with congenital hearing loss and dilated vestibular aqueducts (DVA). 23246836

2013