PMID: 34075144

Polymorphisms of rs2483205 and rs562556 in the PCSK9 gene are associated with coronary artery disease and cardiovascular risk factors.

Scientific reports

Gai, Min-Tao MT, Adi, Dilare D, Chen, Xiao-Cui XC, Liu, Fen F, Xie, Xiang X, Yang, Yi-Ning YN, Gao, Xiao-Ming XM, Ma, Xiang X, Fu, Zhen-Yan ZY, Ma, Yi-Tong YT, Chen, Bang-Dang BD

2021-06-01

7 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55505668-C-G	PCSK9	c.158C>G	p.A53G	Missense	1/12	-
1-55523127-G-T	PCSK9	c.1120G>T	p.D374Y	Missense	7/12	-
1-55505647-G-T	PCSK9	c.137G>T	p.R46L	Missense	1/12	-
1-55524237-G-A	PCSK9	c.1420G>A	p.V474I	Missense	9/12	-
1-55505668-C-T	PCSK9	c.158C>T	p.A53V	Missense	1/12	-
1-55518316-C-T	PCSK9	c.658-7C>T	-	IntronicSNV	-	4/11
1-55518467-A-G	PCSK9	c.799+3A>G	-	IntronicSNV	-	5/11