Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs431905518
rs431905518
SLC26A5
0.010 GeneticVariation BEFREE Methods The subjects were two sisters with bilateral sensorineural hearing loss who were compound heterozygotes for c.209G > A (p.W70X) and c.390A > C (p.R130S) mutations in the prestin gene. 26824437

2016