Table 2. Genotype and allelic frequencies distribution of the variants in a cohort of ASD patients and healthy controls.

Variant	Variables	ASD patients (n = 51)	Control population (n = 73)	p-value	Odds Ratio (95% CI)
c.6T>C	Genotype
	T/T	49	70
	C/C	-	3
	T/C	2	-	0.288	2.14 (0.42–10.83)
	Allele Frequency
	T	0.980	0.958
	C	0.019	0.042
c.4648-134A>G	Genotype
	T/T	23	11
	C/C	8	13
	T/C	20	32	0.011	1.97 (1.13–3.41)
	Allele Frequency
	T	0.647	0.369
	C	0.353	0.397
c.2952T>C	Genotype
	T/T	27	15
	C/C	7	17
	T/C	17	41	P = 0.0002	2.62 (1.54–4.45)
	Allele Frequency
	T	0.696	0.486
	C	0.303	0.514
c.5254G>A	Genotype
	G/G	49	73
	A/A	-	0
	G/A	2	-
	Allele Frequency			0.172	0.00 (0.00–0.00
	G	0.980	1.000
	A	0.019	0
c.4957-16G>T	Genotype
	G/G	16	28
	T/T	14	6
	G/T	21	38	0.044	0.62 (0.37–1.03)
	Allele Frequency
	G	0.519	0.644
	T	0.480	0.342
c.2916A>G	Genotype
	A/A	28	15
	G/G	4	18
	A/G	19	38	p = 0.0003	2.55 (1.50–4.32)
	Allele Frequency
	A	0.735	0.466
	G	0.265	0.507
c.2926-12A>G	Genotype
	A/A	29	15
	G/G	3	17
	A/G	19	40	p = 00006	2.90 (1.69–4.99)
	Allele Frequency
	A	0.754	0.479
	G	0.245	0.507
c.3574G>A	Genotype
	G/G	27	14
	A/A	4	16
	G/A	20	42	0.001	2.30 (1.36–3.87)
	Allele Frequency
	G	0.725	0.479
	A	0.274	0.507
c.4731C>T	Genotype
	C/C	17	12
	T/T	10	14
	C/T	24	37	0.164	1.34 (0.79–2.26)
	Allele Frequency
	C	0.568	0.418
	T	0.431	0.445
c.3857-925A>C	Genotype
	AA	21	73
	CC	9	0
	AC	21	0	p = 0000	0.00 (0.00–0.06)
	Allele Frequency
	A	0.617	1.000
	C	0.382	0.000
c.5457+9dup	Genotype
	G/GA	38	7	p≤0.050*	0.01
	GA/GA	13	66		(0.01–0.09)
c.349-36A>G	Genotype
	AA	38	60
	GG	1	-
	AG	12	7	0.033	0.37 (0.14–0.97)
	Allele Frequency
	A	0.862	0.869
	G	0.137	0.048

* p≤0.050 is considered significant