Variant type
|
WES cohort
|
WGS cohort
|
---|
Case (n = 1555)
|
Control (n = 2234)
|
P value
|
Case (n = 1962)
|
Control (n = 1279)
|
P value
|
---|
All
|
25
|
11
|
0.0001
|
19
|
12
|
0.70
|
Synonymous
|
6
|
6
|
0.16
|
7
|
5
|
0.93
|
Loss of function
|
5
|
0
|
0.008
|
0
|
0
|
> 0.99
|
Missense
|
14
|
5
|
0.0009
|
12
|
7
|
0.55
|
Protein-altering
|
19
|
5
|
< 0.0001
|
12
|
7
|
0.55
|
Deleterious
|
19
|
3
|
< 0.0001
|
10
|
3
|
0.33
|
- Deleterious variants are predicted to be damaging or have previously been reported to be associated with PD or DRD. Loss of function indicates stop gain/loss, frameshift, and splicing mutations falling within two base pairs of exon-intron junctions. The protein-altering variants include missense and loss-of-function variants. The P values were analyzed by SKAT-O