Variant ID: 1-55518467-A-G

NM_174936.3(PCSK9):c.799+3A>G

This variant was identified in 13 publications




Publications:


Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.

Jama
J Yarmolinsky, CJ Bull, EE Vincent, J Robinson, A Walther, GD Smith, SJ Lewis, CL Relton, RM Martin
Publication Date: 2020-02-18

Variant appearance in text: rs2495477
PubMed Link: 32068819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration.

Nature Communications
R Noordam, MM Bos, H Wang, TW Winkler, AR Bentley, TO Kilpeläinen, PS de Vries, YJ Sung, K Schwander, BE Cade, A Manning, H Aschard, MR Brown, H Chen, N Franceschini, SK Musani, M Richard, D Vojinovic, S Aslibekyan, TM Bartz, L de Las Fuentes, M Feitosa, AR Horimoto, M Ilkov, M Kho, A Kraja, C Li, E Lim, Y Liu, DO Mook-Kanamori, T Rankinen, SM Tajuddin, A van der Spek, Z Wang, J Marten, V Laville, M Alver, E Evangelou, ME Graff, M He, B Kühnel, LP Lyytikäinen, P Marques-Vidal, IM Nolte, ND Palmer, R Rauramaa, XO Shu, H Snieder, S Weiss, W Wen, LR Yanek, C Adolfo, C Ballantyne, L Bielak, NR Biermasz, E Boerwinkle, N Dimou, G Eiriksdottir, C Gao, SA Gharib, DJ Gottlieb, J Haba-Rubio, TB Harris, S Heikkinen, R Heinzer, JE Hixson, G Homuth, MA Ikram, P Komulainen, JE Krieger, J Lee, J Liu, KK Lohman, AI Luik, R Mägi, LW Martin, T Meitinger, A Metspalu, Y Milaneschi, MA Nalls, J O'Connell, A Peters, P Peyser, OT Raitakari, AP Reiner, PCN Rensen, TK Rice, SS Rich, T Roenneberg, JI Rotter, PJ Schreiner, J Shikany, SS Sidney, M Sims, CM Sitlani, T Sofer, K Strauch, MA Swertz, KD Taylor, AG Uitterlinden, CM van Duijn, H Völzke, M Waldenberger, RB Wallance, KW van Dijk, C Yu, AB Zonderman, DM Becker, P Elliott, T Esko, C Gieger, HJ Grabe, TA Lakka, T Lehtimäki, KE North, BWJH Penninx, P Vollenweider, LE Wagenknecht, T Wu, YB Xiang, W Zheng, DK Arnett, C Bouchard, MK Evans, V Gudnason, S Kardia, TN Kelly, SB Kritchevsky, RJF Loos, AC Pereira, M Province, BM Psaty, C Rotimi, X Zhu, N Amin, LA Cupples, M Fornage, EF Fox, X Guo, WJ Gauderman, K Rice, C Kooperberg, PB Munroe, CT Liu, AC Morrison, DC Rao, D van Heemst, S Redline
Publication Date: 2019-11-12

Variant appearance in text: rs2495477
PubMed Link: 31719535
Variant Present in the following documents:
  • 41467_2019_12958_MOESM5_ESM.xlsx
View BVdb publication page



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: rs2495477
PubMed Link: 31714636
Variant Present in the following documents:
  • ANA-87-30-s001.docx
View BVdb publication page



A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context.

Nature Communications
A Gallois, J Mefford, A Ko, A Vaysse, H Julienne, M Ala-Korpela, M Laakso, N Zaitlen, P Pajukanta, H Aschard
Publication Date: 2019-10-21

Variant appearance in text: rs2495477
PubMed Link: 31636271
Variant Present in the following documents:
  • 41467_2019_12703_MOESM11_ESM.xlsx
  • 41467_2019_12703_MOESM3_ESM.xlsx
  • 41467_2019_12703_MOESM4_ESM.xlsx
  • 41467_2019_12703_MOESM6_ESM.xlsx
  • 41467_2019_12703_MOESM8_ESM.xlsx
View BVdb publication page



Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs2495477
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

Atherosclerosis
E Nikkola, A Ko, M Alvarez, RM Cantor, K Garske, E Kim, S Gee, A Rodriguez, R Muxel, N Matikainen, S Söderlund, MM Motazacker, J Borén, C Lamina, F Kronenberg, WJ Schneider, A Palotie, M Laakso, MR Taskinen, P Pajukanta
Publication Date: 2017-09

Variant appearance in text: rs2495477
PubMed Link: 28772107
Variant Present in the following documents:
  • NIHMS896854-supplement.pdf
View BVdb publication page



Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics
I Radovica-Spalvina, G Latkovskis, I Silamikelis, D Fridmanis, I Elbere, K Ventins, G Ozola, A Erglis, J Klovins
Publication Date: 2015-09-28

Variant appearance in text: PCSK9: 799+3A>G; rs2495477
PubMed Link: 26415676
Variant Present in the following documents:
  • 12881_2015_230_MOESM1_ESM.doc
View BVdb publication page



A PLSPM-based test statistic for detecting gene-gene co-association in genome-wide association study with case-control design.

Plos One
X Zhang, X Yang, Z Yuan, Y Liu, F Li, B Peng, D Zhu, J Zhao, F Xue
Publication Date: 2013

Variant appearance in text: rs2495477
PubMed Link: 23620809
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Y Wu, LL Waite, AU Jackson, WH Sheu, S Buyske, D Absher, DK Arnett, E Boerwinkle, LL Bonnycastle, CL Carty, I Cheng, B Cochran, DC Croteau-Chonka, L Dumitrescu, CB Eaton, N Franceschini, X Guo, BE Henderson, LA Hindorff, E Kim, L Kinnunen, P Komulainen, WJ Lee, L Le Marchand, Y Lin, J Lindström, O Lingaas-Holmen, SL Mitchell, N Narisu, JG Robinson, F Schumacher, A Stančáková, J Sundvall, YJ Sung, AJ Swift, WC Wang, L Wilkens, T Wilsgaard, AM Young, LS Adair, CM Ballantyne, P Bůžková, A Chakravarti, FS Collins, D Duggan, AB Feranil, LT Ho, YJ Hung, SC Hunt, K Hveem, JM Juang, AY Kesäniemi, J Kuusisto, M Laakso, TA Lakka, IT Lee, MF Leppert, TC Matise, L Moilanen, I Njølstad, U Peters, T Quertermous, R Rauramaa, JI Rotter, J Saramies, J Tuomilehto, M Uusitupa, TD Wang, M Boehnke, CA Haiman, YD Chen, C Kooperberg, TL Assimes, DC Crawford, CA Hsiung, KE North, KL Mohlke
Publication Date: 2013-03

Variant appearance in text: rs2495477
PubMed Link: 23555291
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: rs2495477
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc7.xls
View BVdb publication page



Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population.

Journal Of Lipid Research
I Guella, R Asselta, D Ardissino, PA Merlini, F Peyvandi, S Kathiresan, PM Mannucci, M Tubaro, S Duga
Publication Date: 2010-11

Variant appearance in text: rs2495477
PubMed Link: 20699424
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
SE Humphries, RA Whittall, CS Hubbart, S Maplebeck, JA Cooper, AK Soutar, R Naoumova, GR Thompson, M Seed, PN Durrington, JP Miller, DJ Betteridge, HA Neil,
Publication Date: 2006-12

Variant appearance in text: PCSK9: 799+3A>G; rs2495477
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page



A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis.

Journal Of The American College Of Cardiology
SN Chen, CM Ballantyne, AM Gotto, Y Tan, JT Willerson, AJ Marian
Publication Date: 2005-05-17

Variant appearance in text: rs2495477
PubMed Link: 15893176
Variant Present in the following documents:
  • NIHMS215716-supplement-Supplementary_Data.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.799+3A>G - splice_region_variant,intron_variant - 5/11
ENST00000490692.1 n.1620+3A>G - splice_region_variant,intron_variant,non_coding_transcript_variant - 2/7
ENST00000543384.1 c.199+3A>G - splice_region_variant,intron_variant - 3/9
NM_174936.4 c.799+3A>G - splice_region_variant,intron_variant - 5/11
NR_110451.1 n.458+3A>G - splice_region_variant,intron_variant,non_coding_transcript_variant - 3/9