Table 2. Comparison of genotypes and allele frequencies of C224T polymorphism in populations of European descent and the Göttinger pediatric cohort.

Cohort			Genotype						Allele frequency		Difference to Göttinger cohort ( p -Value)
		n	CC		CT		TT		C	T
ClinSeq a		659	560	0.8498	94	0.1426	5	0.0076	0.9211	0.0789	0.72
ESP b		4,299	3,646	0.8481	609	0.1417	44	0.0102	0.9189	0.0811	0.81
ExAc1 c	European (non-Finnish)	33,022	27,783	0.8413	4993	0.1512	246	0.0075	0.9169	0.0831	0.91
ExAc2 c	European (Finnish)	3,291	2,976	0.9043	308	0.0936	7	0.0021	0.9511	0.0489	< 0.01
ExAc3 c	Total	36,313	30,759	0.8471	5301	0.1460	253	0.0069	0.92	0.08	0.74
GÖ d		189	159	0.8413	28	0.1481	2	0.0106	0.9153	0.0847	–

Note: Populations with European descent (adults). n  = count of participants.

^a ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study ( https://www.genome.gov/20519355/clinseq-a-largescale-medical-sequencing-clinical-research-pilot-study/ ).

^b ESP: NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS/ ).

^c ExAC: Exome Aggregation Consortium ( http://exac.broadinstitute.org/ ).

^dGÖ: Göttinger pediatric cohort.