Table 3.

Table 3A. Number of sequence variations detected in TBX1 through gene resequencing in a reference population
	Sample size	Copies of TBX1	Variationsa	MAF ≥5%	TagSNPs
Total population	95	190	355	86	109b
European descent	22	44	146	86	47
African descent	27	54	241	132	82
Asian descent	24	48	157	80	37
Hispanic	22	44	120	88	35

Table 3B. Number of sequence variations detected in TBX1 through gene resequencing in children with 22q11.2DS
	Sample size	Copies of TBX1	Variationsa	MAF≥5%
Total populationc	29	29	187	-
European descent	24	24	100	91

^aSequence variations include single nucleotide polymorphisms and insertion/deletions

^bSee Methods section for details of TagSNP selection. The MultiPop Algorithm was used to identify tagSNPs for the entire reference population

^cIncludes five individuals with combinations of Asian, Pacific Islander, Native American, Hispanic and European descent