Variant ID: 1-55523361-A-G

NM_174936.3(PCSK9):c.1180+174A>G

This variant was identified in 4 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: rs533375
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
View BVdb publication page



Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.

Scientific Reports
Guo, Tao T; Yin, Rui-Xing RX; Yao, Li-Mei LM; Huang, Feng F; Pan, Ling L; Lin, Wei-Xiong WX; Yang, De-Zhai DZ; Pan, Shang-Ling SL
Publication Date: 2016-11-17

Variant appearance in text: rs533375
PubMed Link: 27853278
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOM and high-density lipoprotein cholesterol are associated with lung function and per cent emphysema.

The European Respiratory Journal
Burkart, Kristin M KM; Manichaikul, Ani A; Wilk, Jemma B JB; Ahmed, Firas S FS; Burke, Gregory L GL; Enright, Paul P; Hansel, Nadia N NN; Haynes, Demondes D; Heckbert, Susan R SR; Hoffman, Eric A EA; Kaufman, Joel D JD; Kurai, Jun J; Loehr, Laura L; London, Stephanie J SJ; Meng, Yang Y; O'Connor, George T GT; Oelsner, Elizabeth E; Petrini, Marcy M; Pottinger, Tess D TD; Powell, Charles A CA; Redline, Susan S; Rotter, Jerome I JI; Smith, Lewis J LJ; Soler Artigas, María M; Tobin, Martin D MD; Tsai, Michael Y MY; Watson, Karol K; White, Wendy W; Young, Taylor R TR; Rich, Stephen S SS; Barr, R Graham RG
Publication Date: 2014-04

Variant appearance in text: rs533375
PubMed Link: 23900982
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: rs533375
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
View BVdb publication page