Table 2.

Summary of the common c.964-1G>C variant.

This table summarizes the data found on the common c.964-1G>C variant. This variant was found 10 times in the 1000 Genome database, 70 times in ESP, 9 times in ClinSeq and 5 times in the Autism database. These equate to carrier rates of 0.46%, 0.54%, 0.97% and 0.66% respectively.

	1000 Genome	NE populations*	ESP	ClinSeq	Autism
c.964-1G>C variant	10	8	70	9	5
Total alleles analyzed	2184	988	12864	926	762
Rate	0.46%	0.81%	0.54%	0.97%	0.66%

^*The 1000 Genome project defined the populations analyzed and therefore if only Northern European populations were taken into consideration (CEU, CLM, FIN, GBR, IBS, TSI, PUR, Supplemental Table 1), a carrier rate of 0.81% was found. This variation of the ethnic diversity emphasizes the importance of considering the population studied.