Variant ID: 1-55518316-C-T

NM_174936.3(PCSK9):c.658-7C>T

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
Publication Date: 2021-09-24

Variant appearance in text: rs2483205
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
View BVdb publication page



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
Publication Date: 2021-06-01

Variant appearance in text: rs2483205
PubMed Link: 34075144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and In Vitro Inhibition of PCSK9 and Calcific Aortic Valve Stenosis.

Jacc. Basic To Translational Science
Perrot, Nicolas N; Valerio, Vincenza V; Moschetta, Donato D; Boekholdt, S Matthijs SM; Dina, Christian C; Chen, Hao Yu HY; Abner, Erik E; Martinsson, Andreas A; Manikpurage, Hasanga D HD; Rigade, Sidwell S; Capoulade, Romain R; Mass, Elvira E; Clavel, Marie-Annick MA; Le Tourneau, Thierry T; Messika-Zeitoun, David D; Wareham, Nicholas J NJ; Engert, James C JC; Polvani, Gianluca G; Pibarot, Philippe P; Esko, Tõnu T; Smith, J Gustav JG; Mathieu, Patrick P; Thanassoulis, George G; Schott, Jean-Jacques JJ; Bossé, Yohan Y; Camera, Marina M; Thériault, Sébastien S; Poggio, Paolo P; Arsenault, Benoit J BJ
Publication Date: 2020-07

Variant appearance in text: rs2483205
PubMed Link: 32760854
Variant Present in the following documents:
  • Main text
View BVdb publication page



Methods for meta-analysis of multiple traits using GWAS summary statistics.

Genetic Epidemiology
Ray, Debashree D; Boehnke, Michael M
Publication Date: 2018-03

Variant appearance in text: rs2483205
PubMed Link: 29226385
Variant Present in the following documents:
  • Main text
View BVdb publication page



A PLSPM-based test statistic for detecting gene-gene co-association in genome-wide association study with case-control design.

Plos One
Zhang, Xiaoshuai X; Yang, Xiaowei X; Yuan, Zhongshang Z; Liu, Yanxun Y; Li, Fangyu F; Peng, Bin B; Zhu, Dianwen D; Zhao, Jinghua J; Xue, Fuzhong F
Publication Date: 2013

Variant appearance in text: rs2483205
PubMed Link: 23620809
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.

Journal Of Lipid Research
Postmus, Iris I; Trompet, Stella S; de Craen, Anton J M AJ; Buckley, Brendan M BM; Ford, Ian I; Stott, David J DJ; Sattar, Naveed N; Slagboom, P Eline PE; Westendorp, Rudi G J RG; Jukema, J Wouter JW
Publication Date: 2013-02

Variant appearance in text: rs2483205
PubMed Link: 23300213
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
Ding, Keyue K; Kullo, Iftikhar J IJ
Publication Date: 2008-03

Variant appearance in text: rs2483205
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
Humphries, S E SE; Whittall, R A RA; Hubbart, C S CS; Maplebeck, S S; Cooper, J A JA; Soutar, A K AK; Naoumova, R R; Thompson, G R GR; Seed, M M; Durrington, P N PN; Miller, J P JP; Betteridge, D J B DJ; Neil, H A W HA; ,
Publication Date: 2006-12

Variant appearance in text: rs2483205
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page