Table 2 Combined analysis: 181 unique SORL1 variants in 1895 cases and 3206 controls

CADD score	N-variants in burden test ^a	Cases With at least one variant Total 1895	Controls With at least one variant Total 3206	OR (95% CI)	P- value ^b (unadjusted))
ExAC-MAF >0.01 (each variant detected in >1200 subjects in the ExAC database)
0–10	8^c	1,895	3,206	1.0	1.0
10–20	4^c	1,895	3,206	1.0	1.0
20–30	1	203	300	1.2 (1.0–1.4)	7.3 × 10⁻²
>30	1	67	162	0.7 (0.5–0.9)	1.0
0.001< ExAC-MAF <0.01 (each variant detected in 121–1200 subjects in ExAC database)
0–10	5^c	93	158	1.0 (0.8–1.3)	0.52
10–20	4^c	68	151	0.8 (0.6–1.0)	0.98
20–30	3	37	40	1.6 (1.0–2.5)	3.2 × 10⁻²
>30	1	4	7	1.0 (0.3–3.3)	0.63
0.0001< ExAC-MAF <0.001 (each variant detected in 13–120 subjects in ExAC database)
0–10	5	10	12	1.4 (0.6–3.3)	0.27
10–20	5	9	11	1.4 (0.6–3.4)	0.30
20–30	11	15	21	1.2 (0.6–2.4)	0.34
>30	4	5	4	2.1 (0.6–7.9)	0.21
0.00001<ExAC-MAF <0.0001 (each variant detected in 2–12 subjects in ExAC database)
0–10	5	7	10	1.2 (0.5–3.1)	0.45
10–20	20	9	21	0.7 (0.3–1.6)	0.84
20–30	22	9	23	0.7 (0.3–1.4)	0.90
>30	9	10	2	8.5 (1.9–38.8)	1.4 × 10⁻³
ExAC-MAF <0.00001 (unknown or singletons in ExAC database)
0–10	7	2	8	0.4 (0.1–2.0)	0.93
10–20	15	9	7	2.2 (0.8–5.9)	9.4 × 10⁻²
20–30	22	13	11	2.0 (0.9–4.5)	6.6 × 10⁻²
>30	29	28	4	12.0 (4.2–34.3)	5.0 × 10⁻⁹

Variants were categorized according to the associated minor allele frequency reported in the ExAC database (ExAC-MAF) and CADD score.
^aIn the replication sample, we were not able to account for the overlap when one subject carried multiple variants with the same MAF.
^bAssociations that are significant after multiple testing correction are shown in bold (P<7.1 × 10⁻⁴).
^cFor common variants derived form the replication sample, the variant MAF reported in cases and controls was used to estimate the number of case-carriers and control-carriers.

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