Table 2 Nonsynonymous rare (minor allele frequency, MAF < 0.01) variants and gene burdens associated (P < 5 × 10−8) with hearing loss in meta-analysis.
Gene | Top Burden/SNV | OR (LCI, UCI) | p-value | Direction |
|---|---|---|---|---|
KLHDC7B | pLOF only (MAF ≤ 0.01) | 2.145 (1.881, 2.446) | 5.22E−30 | −+++? |
TECTA | pLOF + strict deleterious missense (MAF ≤ 0.01) | 1.358 (1.271, 1.451) | 1.10E−19 | ++++? |
MYO6 | pLOF + strict deleterious missense (MAF ≤ 0.0001) | 1.565 (1.420, 1.725) | 1.51E−19 | +++?? |
FSCN2 | pLOF + all missense (MAF ≤ 0.01) | 1.144 (1.107, 1.183) | 1.90E−15 | +++−? |
COL11A2 | 6:33189182:A:G; Phe80Ser | 6.926 (4.280, 11.208) | 3.24E−15 | ?+??? |
SYNJ2 | 6:158071628:C:T; Thr656Met | 1.306 (1.221, 1.398) | 1.25E−14 | +++++ |
SLC26A5 | pLOF and strict deleterious missense (MAF ≤ 0.0001) | 1.956 (1.674, 2.284) | 2.75E−17 | −++?? |
COCH | pLOF + strict deleterious missense (MAF ≤ 0.0001) | 1.719 (1.449, 2.039) | 5.22E−10 | −++?? |
SIX1 | pLOF + strict deleterious missense (MAF ≤ 0.00001) | 4.252 (2.825, 6.400) | 3.95E−12 | ?++?? |
CEACAM16 | pLOF + deleterious missense (MAF ≤ 0.01) | 1.187 (1.128, 1.249) | 4.01E−11 | −++−? |
GJB2 | 13:20189546:AC:A; Gly12fs | 1.214 (1.146, 1.286) | 4.23E−11 | −+++? |
TBC1D24 | 16:2497068:A:G; Asn307Ser | 4.140 (2.571, 6.668) | 5.10E−09 | ?++?? |
POU4F3 | pLOF + all missense (MAF ≤ 0.00001) | 1.923 (1.529, 2.418) | 2.31E−08 | ?++?? |
CDH23 | 10:71712737:A:G; Asn1103Ser | 1.204 (1.127, 1.287) | 3.70E−08 | ++++? |
EYA4 | pLOF only (MAF ≤ 0.001) | 3.077 (2.061, 4.595) | 3.87E−08 | +++?? |
