PCSK9 c.1682-620T>C

Variant ID: 1-55526428-T-C

NM_174936.3(PCSK9):c.1682-620T>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genetic Regulatory Networks of Apolipoproteins and Associated Medical Risks.

Frontiers In Cardiovascular Medicine
Basavaraju, Preethi P; Balasubramani, Rubadevi R; Kathiresan, Divya Sri DS; Devaraj, Ilakkiyapavai I; Babu, Kavipriya K; Alagarsamy, Vasanthakumar V; Puthamohan, Vinayaga Moorthi VM
Publication Date: 2021

Variant appearance in text: rs11206517
PubMed Link: 35071357
Variant Present in the following documents:
  • Main text
  • fcvm-08-788852.pdf
View BVdb publication page



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: rs11206517
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
View BVdb publication page



Genetic drug target validation using Mendelian randomisation.

Nature Communications
Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD
Publication Date: 2020-06-26

Variant appearance in text: rs11206517
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_MOESM1_ESM.pdf
View BVdb publication page



Association between the DOCK7, PCSK9 and GALNT2 Gene Polymorphisms and Serum Lipid levels.

Scientific Reports
Guo, Tao T; Yin, Rui-Xing RX; Huang, Feng F; Yao, Li-Mei LM; Lin, Wei-Xiong WX; Pan, Shang-Ling SL
Publication Date: 2016-01-08

Variant appearance in text: rs11206517
PubMed Link: 26744084
Variant Present in the following documents:
  • Main text
  • srep19079.pdf
View BVdb publication page



Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.

Journal Of Cellular And Molecular Medicine
Guo, Tao T; Yin, Rui-Xing RX; Lin, Wei-Xiong WX; Wang, Wei W; Huang, Feng F; Pan, Shang-Ling SL
Publication Date: 2016-02

Variant appearance in text: rs11206517
PubMed Link: 26493351
Variant Present in the following documents:
  • Main text
  • JCMM-20-243.pdf
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: rs11206517
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
View BVdb publication page