A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.

controls (148 alleles out of 24,758 = 0.6%) was highly significant [ p -value = 9.2 × 10 −5 , threshold = 0.05/ N , N = 1, by Fisher’s exact test (24,610:148 vs. 648:14)], indicating that this relatively common variant has in fact an effect on retinal health.

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unsolved HRD cases showed borderline non-significant enrichment for rs118031911/T in unsolved cases ( p -value = 0.07, OR = 2.30, CI = 0.94–6.76, by Fisher’s exact test), possibly indicating that either well-defined triallelism does not take place for this variant or that we did not have enough power to detect it.

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Indeed, a third DNA change within EYS (c.4957del;p.Ser1653Valfs*26) ranked 3rd in the list of associated variants, even if its p -value did not reach statistical significance after Bonferroni correction.

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