Variant ID: 1-55526685-G-A

NM_174936.3(PCSK9):c.1682-363G>A

This variant was identified in 3 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: rs516499
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: rs516499
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

American Journal Of Human Genetics
Oliveira, Sofia A SA; Li, Yi-Ju YJ; Noureddine, Maher A MA; Zuchner, Stephan S; Qin, Xuejun X; Pericak-Vance, Margaret A MA; Vance, Jeffery M JM
Publication Date: 2005-08

Variant appearance in text: rs516499
PubMed Link: 15986317
Variant Present in the following documents:
  • Main text
View BVdb publication page