Variant ID: 1-55520212-G-A

NM_174936.3(PCSK9):c.800-1454G>A

This variant was identified in 4 publications




Publications:


Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

Plos One
CC Elbers, Y Guo, V Tragante, EP van Iperen, MB Lanktree, BA Castillo, F Chen, LR Yanek, MK Wojczynski, YR Li, B Ferwerda, CM Ballantyne, SG Buxbaum, YD Chen, WM Chen, LA Cupples, M Cushman, Y Duan, D Duggan, MK Evans, JK Fernandes, M Fornage, M Garcia, WT Garvey, N Glazer, F Gomez, TB Harris, I Halder, VJ Howard, MF Keller, MI Kamboh, C Kooperberg, SB Kritchevsky, A LaCroix, K Liu, Y Liu, K Musunuru, AB Newman, NC Onland-Moret, J Ordovas, I Peter, W Post, S Redline, SE Reis, R Saxena, PJ Schreiner, KA Volcik, X Wang, S Yusuf, AB Zonderland, SS Anand, DM Becker, B Psaty, DJ Rader, AP Reiner, SS Rich, JI Rotter, MM Sale, MY Tsai, IB Borecki, RA Hegele, S Kathiresan, MA Nalls, HA Taylor, H Hakonarson, S Sivapalaratnam, FW Asselbergs, F Drenos, JG Wilson, BJ Keating
Publication Date: 2012

Variant appearance in text: rs1165287
PubMed Link: 23236364
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: rs1165287
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc4.xls
View BVdb publication page



Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

Plos Genetics
CM Lill, JT Roehr, MB McQueen, FK Kavvoura, S Bagade, BM Schjeide, LM Schjeide, E Meissner, U Zauft, NC Allen, T Liu, M Schilling, KJ Anderson, G Beecham, D Berg, JM Biernacka, A Brice, AL DeStefano, CB Do, N Eriksson, SA Factor, MJ Farrer, T Foroud, T Gasser, T Hamza, JA Hardy, P Heutink, EM Hill-Burns, C Klein, JC Latourelle, DM Maraganore, ER Martin, M Martinez, RH Myers, MA Nalls, N Pankratz, H Payami, W Satake, WK Scott, M Sharma, AB Singleton, K Stefansson, T Toda, JY Tung, J Vance, NW Wood, CP Zabetian, , , , , P Young, RE Tanzi, MJ Khoury, F Zipp, H Lehrach, JP Ioannidis, L Bertram
Publication Date: 2012

Variant appearance in text: rs1165287
PubMed Link: 22438815
Variant Present in the following documents:
  • pgen.1002548.s005.xls
View BVdb publication page



Fine-mapping and candidate gene investigation within the PARK10 locus.

European Journal Of Human Genetics : Ejhg
K Haugarvoll, M Toft, L Skipper, MG Heckman, JE Crook, A Soto, OA Ross, MM Hulihan, JM Kachergus, SB Sando, LR White, T Lynch, JM Gibson, RJ Uitti, ZK Wszolek, JO Aasly, MJ Farrer
Publication Date: 2009-03

Variant appearance in text: rs1165287
PubMed Link: 18854859
Variant Present in the following documents:
  • ejhg2008187x1.doc
  • ejhg2008187x2.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.800-1454G>A - intron_variant - 5/11
ENST00000490692.1 n.1621-1454G>A - intron_variant,non_coding_transcript_variant - 2/7
ENST00000543384.1 c.200-1454G>A - intron_variant - 3/9
NM_174936.4 c.800-1454G>A - intron_variant - 5/11
NR_110451.1 n.459-1454G>A - intron_variant,non_coding_transcript_variant - 3/9