Table 3. Table summarizing number of genes, SNPs and phenotypes (HPO terms) for each syndrome included in our analysis.

	Genes	MAF>0.005, R2<0.8	HPO terms	matched HPO term
Alagille Syndrome	JAG1, NOTCH2	302	61	36
Marfan syndrome	FBN1	518	64	42
Noonan syndrome	PTPN11, SOS1, RAF1, KRAS, RIT1, BRAF, A2ML1, RRAS, SOS2, NRAS, RASA2, CBL, SHOC2, MAP2K1, KAT6B	3062	58	24
DiGeorge syndrome	22q11.2 deletion (TBX1, DGCR2, DGCR8, DGCR6, COMT, PRODH, HIC2, LZTR1)	1228	66	35