Table 1 Summary of the results of the association study
Gene | Variant | Frequency in cases | Frequency in controls | OR | 95% CI (OR) | p-value |
|---|---|---|---|---|---|---|
EYS | NM_001142800.1:c.2528G>A; p.Gly843Glu | 0.125 | 0.017 | 8.23 | 3.08–18.78 | 5.6E-05* |
EYS | NM_001142800.1:c.8805C>A; p.Tyr2935* | 0.054 | 0.002 | 33.30 | 5.86–128.76 | 1.9E-04* |
EYS | NM_001142800.1:c.4957del; p.Ser1653Valfs*26 | 0.054 | 0.004 | 13.85 | 2.62–46.83 | 1.9E-03 |
USH2A | NM_206933.2:c.15355C>T; p.Arg5119Trp | 0.036 | 0.002 | 20.15 | 2.16–92.44 | 5.9E-03 |
USH2A | NM_206933.2:c.2802T>G; p.Cys934Trp | 0.036 | 0.003 | 14.55 | 1.60–63.22 | 0.010 |
PDZD7 | NM_024895.4:c.1267G>A; p.Ala423Thr | 0.036 | 0.003 | 13.38 | 1.48–57.70 | 0.012 |
EYS | NM_001142800.1:c.7394C>G; p.Thr2465Ser | 0.089 | 0.029 | 3.28 | 1.01–8.30 | 0.024 |
CC2D2A | NM_001080522.2:c.501G>T; p.Lys167Asn | 0.036 | 0.004 | 8.44 | 0.96–34.65 | 0.027 |
RPGRIP1L | NM_015272.4:c.171G>T; p.Leu57Phe | 0.054 | 0.011 | 4.90 | 0.96–15.63 | 0.028 |
BBIP1 | NM_001243783.2:c.112T>C; p.Ser38Pro | 0.036 | 0.005 | 7.70 | 0.87–31.35 | 0.032 |
