Table 3.

Variants identified in Finnish PAH patients

Gene	Variant ID	Consequence	Clinical significance	Variant prediction	MAF1	Number of patients
ACVRL1	CM033589	Missense	Likely benign	Tolerated	0	1
BMPR2	rs137852751	Stop	Pathogenic	Disease-causing	0	1
BMPR2	–	Frameshift	Pathogenic	Disease-causing	0	2
BMPR2	rs137852752	Missense	Pathogenic	Disease-causing	0.000008134	1
BMPR2	rs137852749	Missense	Pathogenic	Disease-causing	0	1
BMPR2	CM010166, COSM209591	Stop	Likely pathogenic	Disease-causing	0	1
BMPR2	rs1061157	Synonymous	Benign	Neutral	0.1201	7
BMPR2	rs375624016	5′UTR-insertion	Unknown	Unknown	0	3
BMPR2	rs55722784	Synonymous	Benign	Neutral	0.01371	2
ENG	rs3739817	Synonymous	Benign	Neutral	0.09142	4
ENG	rs34828244	Synonymous	Benign	Neutral	0.01042	2
ENG	rs36092484	Synonymous	Benign	Neutral	0.01801	2
ENG	rs16930129 (rs11545664)	Synonymous	Benign	Neutral	0.0983	4
ENG	rs35400405	Missense	Benign	Tolerated	0.04790	2
ENG	rs7847860	Intron	Benign	Neutral	0.06638	3

Minor allele frequencies were collected from the ExAC-project data.