Table 1.

Burden analysis of rare SYNJ1 variants

		Burden analysis in full cohort (n = 8165 cases and n = 70,363 controls)			Burden analysis in early onset (< 50) cases only (n = 818 cases and n = 7427 controls)
Cohort	Variants included in analysis	P-value	Pfdr	N of varaints	P-value	Pfdr	N of vairants
AMP_PD	All rare	1.42E-05	2.98E-04	523	3.48E-05	7.31E-04	471
AMP_PD	Nonsynonymous	0.241	0.633	26	0.273	0.956	23
AMP_PD	CADD	0.248	0.579	9	0.298	0.894	9
Columbia	All rare	0.030	0.126	66	0.574	0.927	40
Columbia	Nonsynonymous	0.012	0.084	25	0.044	0.231	15
Columbia	CADD	0.641	0.841	15	0.375	0.984	7
McGill	All rare	0.009	0.095	62	0.027	0.189	31
McGill	Nonsynonymous	0.693	0.809	24	0.573	1.000	13
McGill	CADD	0.665	0.821	19	0.592	0.888	10
Pavlov and Human brain	All rare	0.448	0.941	75	0.807	0.847	38
Pavlov and Human brain	Nonsynonymous	0.605	0.847	35	0.631	0.779	17
Pavlov and Human brain	CADD	0.578	0.867	37	0.74	0.863	17
Sheba	All rare	0.720	0.796	23	0.608	0.851	16
Sheba	Nonsynonymous	0.733	0.770	8	0.464	0.974	5
Sheba	CADD	0.463	0.884	6	0.405	0.945	6
UKBB	All rare	0.530	0.856	440	0.827	0.825	180
UKBB	Nonsynonymous	0.779	0.779	163	0.464	0.809	24
UKBB	CADD	0.497	0.870	67	0.673	0.831	78
Meta-analysis	All rare	0.025	0.131		2.80E-03	0.029
Meta-analysis	Nonsynonymous	0.090	0.315		0.217	0.951
Meta-analysis	CADD	0.120	0.361		0.485	0.953

UKBB UK biobank, AMP-PD Accelerating Medicines Partnership – Parkinson Disease, Combined Annotation Dependent Depletion (CADD) score > 20, P_fdr- p-value with false discovery rate adjustment.