Table 5.
Single variant analysis.
| Gene | Variant | gnomAD_NFE | CADD | Poly Phen2 | ∆∆GMu-Pro and I-Mutant | Diagnostic Group | p Value | MAP | p Value Fdr | p Value Bonf. | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SORL1 | p.D2065V | 0.00416 a | 28.5 | D | −0.28 | −0.57 | AD + DLB + FTLD | 0.031 | <0.001 | 0.611 | 1 |
| DLB | 0.048 | 0.048 | 0.618 | 1 | |||||||
| FTLD | 0.021 | 0.004 | 0.656 | 1 | |||||||
| AGRN | p.V554M | 0.0065 a | 25.8 | D | −0.52 | 0.03 | DLB | 0.048 | 0.048 | 0.618 | 1 |
| NEU1 | p.R397W | 0.00004617 b | 26.8 | D | −0.95 | −0.76 | DLB | 0.048 | 0.048 | 0.618 | 1 |
| TOM1 | p.V67A | 0.00007169 b | 26.5 | D | −1.165 | −2.26 | DLB | 0.048 | 0.048 | 0.618 | 1 |
| ABCA2 | p.H1449P | 0 c | 24.3 | D | n.a. | n.a. | DLB | 0.048 | 0.048 | 0.618 | 1 |
gnomAD_NFE, genome aggregation database non-Finnish European; a, 0.001 < gnomAD_NFE ≤ 0.01; b, 0 < gnomAD_NFE ≤ 0.001; c, gnomAD_NFE = 0; CADD, combined annotation dependent depletion; PolyPhen2, polymorphism phenotyping v2; D, damaging; P, potentially damaging; ΔΔG, protein stability free energy change; MAP, minimum achievable p-value; Fdr, false discovery rate corrected; Bonf., Bonferroni corrected. Previously reported variants are underlined in bold.