Table 3 Clinical selection criteria of variants
Variant selection criteria | CADD | ExAC-MAF v.0.3.1 | 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-v aluea (unadjusted) |
|---|---|---|---|---|---|---|---|
A. Effect on AD risk | |||||||
Maximum effect size | >30 | <1 × 10−5 | 29 | 28 | 4 | 12.0 (4.2–34.3) | 5.0 × 10−9 |
Maximum evidence for effect | >30 | <1 × 10−4 | 38 | 38 | 6 | 10.9 (4.6–25.9) | 1.8 × 10−11 |
B. Suggested variant subtypes | |||||||
Pathogenic | >30 (truncating) | <1 × 10−5b | 13 | 13 | 0 | inf (5.2– inf) | 2.5 × 10−6 |
Likely pathogenic | >30 (missense) | <1 × 10−4 | 25 | 25 | 6 | 7.1 (2.9–17.4) | 8.6 × 10−7 |
Uncertain significance | |||||||
Possibly pathogenic | 10–30 | <1 × 10−5 | 33 | 21 | 15 | 2.4 (1.2–4.6) | 7.7 × 10−3 |
Most likely not pathogenic | >30 | >1 × 10−4 | 6 | 76 | 173 | 0.73 (0.6–1.0) | 0.99 |
Likely benign | 10–30 | >1 × 10−5 | 70 | 1,895 | 3,206 | 1.0 | 1.0 |
Benign | 0–10 | 0–1 | 30 | 1,895 | 3,206 | 1.0 | 1.0 |
