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Table 5 Frequency of validated variants in public databases

From: Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease

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)