Table 3.

Estimates for univariate (A) and multivariate models (B). OR represents the odds of affected disease status or late age at onset (> 40 years) for models 1 and 2 respectively (logistic regression models); OR >1 represents the odds of being affected or having a late AAO. OR represents the odds of severe disease outcome compared to mild and moderate for model 3 (ordinal logistic regression), where OR > 1 indicates worse outcome. OR=odds ratio, 95% CI=95% confidence intervals, AIC= Akaike Information Criterion.

A. Estimates for Univariate models
	Model 1			Model 2			Model 3
Outcome	Disease status (Logistic regression with robust standard errors)			Age at Onset (Logistic regression with robust standard errors)			Disease severity (Ordinal logistic regression with robust standard errors)
Independent variable	OR (95% CI)	p-value	AIC	OR (95% CI)	p-value	AIC	OR (95% CI)	p-value	AIC
Duplication size	1.34 (0.78, 2.31)	0.285	45.31	0.94 (0.71, 1.24)	0.662	39.49	1.17 (0.81, 1.68)	0.395	83.78
Gender
female	base			base			base
male	8.36 (1.97, 35.42)	0.004**	41.99	0.23 (0.04, 1.28)	0.094	36.49	5.55 (1.39, 22.22)	0.016*	78.09
B. Estimates for Multivariate models
Duplication size	1.35 (0.77, 2.37)	0.297	42.40	0.95 (0.69, 1.31)	0.766	38.43	1.12 (0.78, 1.62)	0.532	79.61
Gender
female	base			base			base
male	8.26 (1.81, 37.75)	0.006**		0.24 (0.04, 1.29)	0.095		5.27 (1.29, 21.50)	0.021*