Table 5 Frequency of validated variants in public databases
Gene | AA change | MAF PD patients | EVS MAF | p value | OR (IC 95 %) | ExAC MAF | p value | OR (IC 95 %) |
|---|---|---|---|---|---|---|---|---|
LRRK2 | G2019S | 0.008 | 0.0006 | <0.0001 | 12.67 (4.0–40.2) | 0.00063 | <0.0001 | 13.4 (6.2–28.6) |
M1646T | 0.022 | 0.0154 | n.s. | 0.01424 | 0.03 | 1.58 (1.02–2.45) | ||
PINK1 | N367S | 0.002 | Not found | 0.00002 | 0.0001 | 139.6 (12.6–1541) | ||
GBA | H294Q | 0.002 | 0.0003 | 0.04 | 6.0 (1.0–35.99) | 0.0004 | 0.01 | 5.82 (1.37–24.7) |
R83C | 0.002 | 0.0001 | 0.01 | 18.02 (1.63–199) | 7.5086E-05 | 0.0001 | 27.9 (5.4–144) | |
N409S | 0.007 | 0.0028 | 0.02 | 2.63 (1.13–6.13) | 3.6300E-03 | 0.06 | 2.03 (0.95–4.31) | |
L483P | 0.007 | 0.0005 | <0.0001 | 15.85 (4.63–54.24) | Not found | |||
T408M | 0.018 | 0.0072 | 0.0009 | 2.49 (1.45–4.28) | 0.010 | 0.01 | 1.85 (1.14–3.01) | |
E365K | 0.020 | 0.0121 | 0.04 | 1.65 (1.01–2.71) | 0.012 | 0.02 | 1.69 (1.06–2.67) | |
MAPT | A152T | 0.004 | 0.0027 | 0.4 | 1.56 (0.54–4.54) | 0.002 | 0.07 | 2.5 (0.92–6.82) |