. Author manuscript; available in PMC: 2014 Aug 1.

Published in final edited form as: Hum Genet. 2013 Apr 17;132(8):10.1007/s00439-013-1304-5. doi: 10.1007/s00439-013-1304-5

Table 2.

Complement and coagulation cascade genes from the KEGG analysis of the top p-value VAAST genes

Gene	Gene Name	VAAST Score Family 1168	VAAST Score Family 1281	VAAST Rank Family 1168	VAAST Rank Family 1281	Total Missense SNPs for the other 6 exomes
CR1	Complement component (3b/4b) receptor 1 (Knops blood group)	174.31	71.81	12	74	60^* ^φ
F5	Coagulation factor V (proaccelerin, labile factor)	91.08	53.38	45	130	44^*
F13B	Coagulation factor XIII, B polypeptide	57.60	57.60	64	86	6
CR2	Complement component (3d/Epstein Barr virus) receptor 2	56.76	39.38	70	162	30^*
C4BPA	Complement component 4 binding protein, alpha	23.64	38.25	182	170	7
CFH	Complement factor H	n/a	76.52	n/a	65	10^*

Contains variants predicted to be probably damaging

^φ

Contains variants predicted to be possibly damaging