Table 2.

Burden analysis of GCH1 non-coding variants in the WGS cohort

Groups	Items	Rare variant set analysis		All variant set analysis
		Variants included	P value (SKAT-O)	Variants included	P value (SKAT-C)
UTRs/introns (NM_000161)	UTRs/introns	1258	0.80	1403	0.03
Promoter/Enhancer	GH14J054782	128	0.44	146	0.41
	GH14J054818	24	1	28	0.50
	GH14J054843	58	0.46	63	0.09
	GH14J054857	44	0.03	47	0.05
	GH14J054880	35	0.28	50	0.02
	GH14J054889	134	0.74	149	0.82
	GH14J054900	79	0.41	90	0.37
	GH14J054908	9	0.73	11	0.35
	All	511	0.72	584	0.15
eQTLs	brain specific eQTLs	7	0.18	119	0.02