rs431905518, SLC26A5

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DEAFNESS, AUTOSOMAL RECESSIVE 61
CUI: C3151230
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 61
0.700 CausalMutation CLINVAR
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
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