Table 3.

PCSK9 rare variants in the exome chip data.

No	SNP	rs#	Location on chromosome 1	Nucleotide position	Protein position	Annotation	MAF	Number of carriers	HWE P-value	SBP median	DBP median
1	exm62588	rs11591147	55505647	c.137 G>T	p.R46L	Non-synonymous	0.002	9	1	137	89
2	exm62591	rs145886902	55505679	c.169 G>A	p.E57K	Non-synonymous	0.002	8	1	133	66
3	exm62606	rs67608943	55512222	c.426 C>G	p.Y142X	Stop-gain	0.004	15	1	116	75
4	exm62607	Not available	55512267	c.471 C>A	p.N157K	Non-synonymous	0.0002	1	1	165	97
5	exm2263347	rs149489325	55518371	c.706 G>A	p.G236S	Non-synonymous	0.002	3	1	135	81
6	exm62636	rs72646508	55518422	c.757 C>T	p.L253F	Non-synonymous	0.003	14	1	128	75
7	exm62652	Not available	55523076	c.1069C>T	p.R357C	Non-synonymous	0.0002	1	1	122	75
8	exm62659	rs146471967	55523178	c.1171 C>A	p.H391N	Non-synonymous	0.002	10	1	138	82
9	exm62666	rs143275858	55523779	c.1251 C>A	p.H417Q	Non-synonymous	0.002	7	1	132	78
10	exm62667	rs28362261	55523802	c.1274 A>G	p.N425S	Non-synonymous	0.01	72	0.139	135	79
11	exm62678	rs141502002	55524222	c.1405 C>T	p.R469W	Non-synonymous	0.01	40	0.211	129	76
12	exm1834776	rs141995194	55524262	c.1445 A>G	p.E482G	Non-synonymous	0.002	6	1	130	80
13	exm62699	rs28362270	55525313	c.1658 A>G	p.H553R	Non-synonymous	0.01	55	0.3558	134	76
14	exm62700	rs140364657	55525315	c.1851 C>G	p.Q554E	Non-synonymous	0.001	6	1	135	78
15	exm62708	rs28362277	55527222	c.1856 A>C	p.Q619P	Non-synonymous	0.01	60	1	146	84
16	exm62720	rs28362286	55529215	c.2037 C>A	p.C679X	Stop-gain	0.009	34	1	129	76
17	exm62616	rs148612296	55517952	c.525 C>T	p.D175D	Synonymous	0.009	34	1	136	77
18	exm2252207	rs28385710	55518418	c.753C>T	p.R251R	Synonymous	0.0002	1	1	207	105
19	exm2252208	rs140364657	55527217	c. 1851 C>T	p.A617A	Synonymous	0.006	20	1	135	79

DBP, diastolic blood pressure; HWE, Hardy-Weinberg Equilibrium; MAF, minor allele frequency; SBP, systolic blood pressure.