Table 1. MTNR1A and MTNR1B variants identified in 295 patients with autism spectrum disorder, 362 controls, and 284 individuals from the human genome diversity panel.

Variation	Genomic position a	Allele Maj/Min	Number of individuals carrying the variation (Allelic frequency%)					Receptor function
			ASD	Controls	HDGP Panel
					Caucasians	Asians	Africans
			(n = 295)	(n = 362)	(n = 89)	(n = 107)	(n = 88)
MTNR1A	(Chr4)
I49N	187476374	T/A	1 (0.17%)	0	0	0	0	Altered
A157V	187455426	C/T	0	0	0	1 (0.47%)	0	ND
G166E	187455399	G/A	6 (1%)	15 (2%)	2 (1.1%)	0	1 (0.57%)	Altered
I212T	187455261	T/C	2 (0.33%)	0	0	0	6 (3.4%)	Altered
A266V	187455099	C/T	11 (1.9%)	15 (2%)	4 (2.2%)	2 (0.93%)	5 (2.8%)	Altered
K334N	187454894	A/T	1 (0.17%)	2 (0.28%)	1 (0.56%)	0	0	Altered
ALLb			20 (3.6%)	30 (4.4%)	7 (3.9%)	3 (1.4%)	12 (6.8%)
MTNR1B	(chr11)
A13V	92342577	C/T	0	0	0	1 (0.47%)	0	ND
G24E	92342610	G/A	4 AA 46 AG 245 GG f(A) 9.15%	1 AA 48 AG 313 GG f(A) 6.9%	3 AA 6 AG 80 GG f(A) 6.7%	0 AA 8 AG 99 GG f(A) 3.7%	0 AA 2 AG 86 GG f(A) 1.1%	As control
A25T	92342612	G/A	0	0	0	0	1 (0.57%)	ND
M120V	92354397	A/G	0	1 (0.14%)	0	0	0	As control
V124I	92354409	G/A	1 (0.17%)	0	0	0	0	Altered
R138C	92354449	C/T	1 (0.17%)	2 (0.28%)	0	0	0	Altered
R231H	92354729	G/A	3 (0.5%)	5 (0.69%)	1 (0.56%)	0	0	Altered
K243R	92354765	A/G	0 GG 22 AG 273 AA f(G) 3.7%	0 GG 15 AG 347 AA f(G) 2%	0 GG 3 AG 86 AA f(G) 1.7%	0 GG 1 AG 106 AA f(G)0.47%	3 GG 28 AG 51 AA f(G)19.3%	Altered
A325V	92355011	C/T	0	0	0	1 (0.47%)	0	ND
R330Q	92355026	G/A	1 (0.17%)	0	0	0	0	As control
ALLb			74(13.9%)	67(10.1%)	13 (8.9%)	11 (5.1%)	33 (21%)

^aHuman genome build NCBI36/hg18;

^btotal of individuals carrying MTNR1A/B variations. This number can be lower than the number of variants since some individuals are carrying two variations.