Variant ID: 1-55523361-A-G

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

This variant was identified in 6 publications




Publications:


Lipid lowering and Alzheimer disease risk: A mendelian randomization study.

Annals Of Neurology
DM Williams, C Finan, AF Schmidt, S Burgess, AD Hingorani
Publication Date: 2020-01

Variant appearance in text: rs533375
PubMed Link: 31714636
Variant Present in the following documents:
  • ANA-87-30-s001.docx
View BVdb publication page



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

Scientific Reports
T Guo, RX Yin, LM Yao, F Huang, L Pan, WX Lin, DZ Yang, SL Pan
Publication Date: 2016-11-17

Variant appearance in text: PCSK9: 1180+174A>G; rs533375
PubMed Link: 27853278
Variant Present in the following documents:
  • Main text
  • srep37375-s1.doc
View BVdb publication page



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

The European Respiratory Journal
KM Burkart, A Manichaikul, JB Wilk, FS Ahmed, GL Burke, P Enright, NN Hansel, D Haynes, SR Heckbert, EA Hoffman, JD Kaufman, J Kurai, L Loehr, SJ London, Y Meng, GT O'Connor, E Oelsner, M Petrini, TD Pottinger, CA Powell, S Redline, JI Rotter, LJ Smith, M Soler Artigas, MD Tobin, MY Tsai, K Watson, W White, TR Young, SS Rich, RG Barr
Publication Date: 2014-04

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



Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

American Journal Of Human Genetics
FW Asselbergs, Y Guo, EP van Iperen, S Sivapalaratnam, V Tragante, MB Lanktree, LA Lange, B Almoguera, YE Appelman, J Barnard, J Baumert, AL Beitelshees, TR Bhangale, YD Chen, TR Gaunt, Y Gong, JC Hopewell, T Johnson, ME Kleber, TY Langaee, M Li, YR Li, K Liu, CW McDonough, MF Meijs, RP Middelberg, K Musunuru, CP Nelson, JR O'Connell, S Padmanabhan, JS Pankow, N Pankratz, S Rafelt, R Rajagopalan, SP Romaine, NJ Schork, J Shaffer, H Shen, EN Smith, SE Tischfield, PJ van der Most, JV van Vliet-Ostaptchouk, N Verweij, KA Volcik, L Zhang, KR Bailey, KM Bailey, F Bauer, JM Boer, PS Braund, A Burt, PR Burton, SG Buxbaum, W Chen, RM Cooper-Dehoff, LA Cupples, JS deJong, C Delles, D Duggan, M Fornage, CE Furlong, N Glazer, JG Gums, C Hastie, MV Holmes, T Illig, SA Kirkland, M Kivimaki, R Klein, BE Klein, C Kooperberg, K Kottke-Marchant, M Kumari, AZ LaCroix, L Mallela, G Murugesan, J Ordovas, WH Ouwehand, WS Post, R Saxena, H Scharnagl, PJ Schreiner, T Shah, DC Shields, D Shimbo, SR Srinivasan, RP Stolk, DI Swerdlow, HA Taylor, EJ Topol, E Toskala, JL van Pelt, J van Setten, S Yusuf, JC Whittaker, AH Zwinderman, , SS Anand, AJ Balmforth, GS Berenson, CR Bezzina, BO Boehm, E Boerwinkle, JP Casas, MJ Caulfield, R Clarke, JM Connell, KJ Cruickshanks, KW Davidson, IN Day, PI de Bakker, PA Doevendans, AF Dominiczak, AS Hall, CA Hartman, C Hengstenberg, HL Hillege, MH Hofker, SE Humphries, GP Jarvik, JA Johnson, BM Kaess, S Kathiresan, W Koenig, DA Lawlor, W März, O Melander, BD Mitchell, GW Montgomery, PB Munroe, SS Murray, SJ Newhouse, NC Onland-Moret, N Poulter, B Psaty, S Redline, SS Rich, JI Rotter, H Schunkert, P Sever, AR Shuldiner, RL Silverstein, A Stanton, B Thorand, MD Trip, MY Tsai, P van der Harst, E van der Schoot, YT van der Schouw, WM Verschuren, H Watkins, AA Wilde, BH Wolffenbuttel, JB Whitfield, GK Hovingh, CM Ballantyne, C Wijmenga, MP Reilly, NG Martin, JG Wilson, DJ Rader, NJ Samani, AP Reiner, RA Hegele, JJ Kastelein, AD Hingorani, PJ Talmud, H Hakonarson, CC Elbers, BJ Keating, F Drenos
Publication Date: 2012-11-02

Variant appearance in text: rs533375
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc4.xls
View BVdb publication page



Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study.

Bmc Medical Genomics
JA Smith, ST Turner, YV Sun, M Fornage, RJ Kelly, TH Mosley, CR Jack, IJ Kullo, SL Kardia
Publication Date: 2009-04-07

Variant appearance in text: rs533375
PubMed Link: 19351393
Variant Present in the following documents:
  • 1755-8794-2-16-S1.xls
View BVdb publication page



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

Pharmacogenetics And Genomics
K Ding, IJ Kullo
Publication Date: 2008-03

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



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1180+174A>G - intron_variant - 7/11
ENST00000490692.1 n.1904+174A>G - intron_variant,non_coding_transcript_variant - 4/7
ENST00000543384.1 c.580+174A>G - intron_variant - 5/9
NM_174936.4 c.1180+174A>G - intron_variant - 7/11
NR_110451.1 n.839+174A>G - intron_variant,non_coding_transcript_variant - 5/9