Table 1.
locus | Selection coefficient | Frequency % | Penetrance % (95%CI) | |||||
---|---|---|---|---|---|---|---|---|
controls | SCZ | DD/ASD/CM | general population | SCZ | DD/CM/ASD | Total | ||
1q21.1 del | 0.26 | 0.021 | 0.17 | 0.29 | 0.033 | 5.2 (2.5–11) | 35 (18–67) | 40 (20–78) |
1q21.1 dup | 0.23 | 0.038 | 0.13 | 0.2 | 0.045 | 2.9 (1.3–6.3) | 18 (10–33) | 21 (11–39) |
NRXN1 del | 0.23 | 0.02 | 0.18 | 0.18 | 0.028 | 6.4 (2.5–8.3) | 26 (16–80) | 33 (18–88) |
3q29 del | 0.83 | 0.0014 | 0.082 | 0.061 | 0.0046 | 18 (4.7–67) | 53 (15–100) | 71 (20–100) |
WBS dup | 0.61 | 0.0058 | 0.066 | 0.12 | 0.011 | 6.0 (1.4–20) | 44 (13–100) | 50 (14–100) |
15q11.2 del | 0.09 | 0.28 | 0.59 | 0.81 | 0.3 | 2.0 (1.4–2.7) | 11 (8.2–14) | 13 (9.6–17) |
Prader-Willi/Angelman dup | 0.5 | 0.0083 | 0.079 | 0.25 | 0.019 | 4.2 (1.4–12) | 54 (25–100) | 58 (26–100) |
15q13.3 del | 0.31 | 0.019 | 0.14 | 0.26 | 0.03 | 4.7 (2.2–9.9) | 35 (19–62) | 40 (21–72) |
16p13.11 dup | 0.13 | 0.13 | 0.31 | 0.3 | 0.14 | 2.2 (1.3–3.7) | 8.4 (5.7–13) | 10.6 (7–17) |
16p11.2 distal del | 0.29 | 0.018 | 0.063 | 0.14 | 0.024 | 2.6 (0.8–9.2) | 23 (8.4–63) | 26 (9.2–72) |
16p11.2 dup | 0.33 | 0.03 | 0.35 | 0.28 | 0.043 | 8.0 (4.3–14) | 26 (18–43) | 34 (22–57) |
17q12 del | 0.68 | 0.0054 | 0.036 | 0.087 | 0.009 | 4.0 (0.8–18) | 39 (13–100) | 43 (14–100) |
DiGeorge/VCFS del | 0.8 | 0 | 0.29 | 0.54 | 0.024 | 12 (6.5–18) | 88 (53–100) | 100 (60–100) |