Variant ID: 1-55505647-G-A

NM_174936.3(PCSK9):c.137G>A;(p.Arg46His)

This variant was identified in 58 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: rs11591147
PMID: 32068819
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Identifying cross-disease components of genetic risk across hospital data in the UK Biobank.

Nature Genetics
A Cortes, PK Albers, CA Dendrou, L Fugger, G McVean
Publication Date: 2019-12-23

Variant appearance in text: rs11591147
PMID: 31873298
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Management of Lipid Abnormalities in Patients with Diabetes.

Current Cardiology Reports
A Sillars, N Sattar
Publication Date: 2019-11-22

Variant appearance in text: rs11591147
PMID: 31758270
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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: rs11591147
PMID: 31714636
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The role of proprotein convertase subtilisin-kexin type 9 (PCSK9) in the vascular aging process - is there a link?

Kardiochirurgia I Torakochirurgia Polska = Polish Journal Of Cardio-Thoracic Surgery
MK Grobelna, E Strauss, Z Krasiński
Publication Date: 2019-10

Variant appearance in text: rs11591147
PMID: 31708986
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Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.

Bmc Cardiovascular Disorders
AF Schmidt, MV Holmes, D Preiss, DI Swerdlow, S Denaxas, G Fatemifar, R Faraway, C Finan, D Valentine, Z Fairhurst-Hunter, FP Hartwig, BL Horta, E Hypponen, C Power, M Moldovan, E van Iperen, K Hovingh, I Demuth, K Norman, E Steinhagen-Thiessen, J Demuth, L Bertram, CM Lill, S Coassin, J Willeit, S Kiechl, K Willeit, D Mason, J Wright, R Morris, G Wanamethee, P Whincup, Y Ben-Shlomo, S McLachlan, JF Price, M Kivimaki, C Welch, A Sanchez-Galvez, P Marques-Vidal, A Nicolaides, AG Panayiotou, NC Onland-Moret, YT van der Schouw, G Matullo, G Fiorito, S Guarrera, C Sacerdote, NJ Wareham, C Langenberg, RA Scott, J Luan, M Bobak, S Malyutina, A Pająk, R Kubinova, A Tamosiunas, H Pikhart, N Grarup, O Pedersen, T Hansen, A Linneberg, T Jess, J Cooper, SE Humphries, M Brilliant, T Kitchner, H Hakonarson, DS Carrell, CA McCarty, KH Lester, EB Larson, DR Crosslin, M de Andrade, DM Roden, JC Denny, C Carty, S Hancock, J Attia, E Holliday, R Scott, P Schofield, M O'Donnell, S Yusuf, M Chong, G Pare, P van der Harst, MA Said, RN Eppinga, N Verweij, H Snieder, , T Christen, DO Mook-Kanamori, , S Gustafsson, L Lind, E Ingelsson, R Pazoki, O Franco, A Hofman, A Uitterlinden, A Dehghan, A Teumer, S Baumeister, M Dörr, MM Lerch, U Völker, H Völzke, J Ward, JP Pell, T Meade, IE Christophersen, AH Maitland-van der Zee, EV Baranova, R Young, I Ford, A Campbell, S Padmanabhan, ML Bots, DE Grobbee, P Froguel, D Thuillier, R Roussel, A Bonnefond, B Cariou, M Smart, Y Bao, M Kumari, A Mahajan, JC Hopewell, S Seshadri, , C Dale, RPE Costa, PM Ridker, DI Chasman, AP Reiner, MD Ritchie, LA Lange, AJ Cornish, SE Dobbins, K Hemminki, B Kinnersley, M Sanson, K Labreche, M Simon, M Bondy, P Law, H Speedy, J Allan, N Li, M Went, N Weinhold, G Morgan, P Sonneveld, B Nilsson, H Goldschmidt, A Sud, A Engert, M Hansson, H Hemingway, FW Asselbergs, RS Patel, BJ Keating, N Sattar, R Houlston, JP Casas, AD Hingorani
Publication Date: 2019-10-29

Variant appearance in text: rs11591147
PMID: 31664920
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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: rs11591147
PMID: 31636271
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A Genetic Approach to the Association Between PCSK9 and Sepsis.

Jama Network Open
Q Feng, WQ Wei, S Chaugai, BG Carranza Leon, V Kawai, DA Carranza Leon, L Jiang, X Zhong, G Liu, A Ihegword, CM Shaffer, MF Linton, CP Chung, CM Stein
Publication Date: 2019-09-04

Variant appearance in text: rs11591147
PMID: 31509211
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Coronary artery disease, genetic risk and the metabolome in young individuals.

Wellcome Open Research
T Battram, L Hoskins, DA Hughes, J Kettunen, SM Ring, G Davey Smith, NJ Timpson
Publication Date: 2018

Variant appearance in text: rs11591147
PMID: 30740535
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Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.

Jama
BA Ference, JJP Kastelein, KK Ray, HN Ginsberg, MJ Chapman, CJ Packard, U Laufs, C Oliver-Williams, AM Wood, AS Butterworth, E Di Angelantonio, J Danesh, SJ Nicholls, DL Bhatt, MS Sabatine, AL Catapano
Publication Date: 2019-01-29

Variant appearance in text: rs11591147
PMID: 30694319
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Causal effects of blood lipids on amyotrophic lateral sclerosis: a Mendelian randomization study.

Human Molecular Genetics
P Zeng, X Zhou
Publication Date: 2019-02-15

Variant appearance in text: rs11591147
PMID: 30445611
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GWAS Reveal Targets in Vessel Wall Pathways to Treat Coronary Artery Disease.

Frontiers In Cardiovascular Medicine
AW Turner, D Wong, CN Dreisbach, CL Miller
Publication Date: 2018

Variant appearance in text: rs11591147
PMID: 29988570
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Risk of Neuropsychiatric Adverse Effects of Lipid-Lowering Drugs: A Mendelian Randomization Study.

The International Journal Of Neuropsychopharmacology
J Alghamdi, S Matou-Nasri, F Alghamdi, S Alghamdi, M Alfadhel, S Padmanabhan
Publication Date: 2018-12-01

Variant appearance in text: rs11591147
PMID: 29986042
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Multilocus Analysis of Genetic Susceptibility to Myocardial Infarction in Russians: Replication Study.

Acta Naturae
NG Kukava, BV Titov, GJ Osmak, NA Matveeva, OG Kulakova, AV Favorov, RM Shakhnovich, MY Ruda, OO Favorova
Publication Date: 2017

Variant appearance in text: rs11591147
PMID: 29340220
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A Review of Pathway-Based Analysis Tools That Visualize Genetic Variants.

Frontiers In Genetics
E Cirillo, LD Parnell, CT Evelo
Publication Date: 2017

Variant appearance in text: rs11591147
PMID: 29163640
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The impact of rare and low-frequency genetic variants in common disease.

Genome Biology
L Bomba, K Walter, N Soranzo
Publication Date: 2017-04-27

Variant appearance in text: rs11591147
PMID: 28449691
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Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome Medicine
R Nagy, TS Boutin, J Marten, JE Huffman, SM Kerr, A Campbell, L Evenden, J Gibson, C Amador, DM Howard, P Navarro, A Morris, IJ Deary, LJ Hocking, S Padmanabhan, BH Smith, P Joshi, JF Wilson, ND Hastie, AF Wright, AM McIntosh, DJ Porteous, CS Haley, V Vitart, C Hayward
Publication Date: 2017-03-07

Variant appearance in text: rs11591147
PMID: 28270201
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The Relationship Between Coronary Artery Disease and Genetic Polymorphisms of Melanoma Inhibitory Activity 3.

Iranian Red Crescent Medical Journal
H Zaimkohan, M Keramatipour, SR Mirhafez, J Tavakkoly-Bazzaz, A Tahooni, M Piryaei, M Ghayour-Mobarhan, SM Ghaderian
Publication Date: 2016-09

Variant appearance in text: rs11591147
PMID: 28180021
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PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.

The Lancet. Diabetes & Endocrinology
AF Schmidt, DI Swerdlow, MV Holmes, RS Patel, Z Fairhurst-Hunter, DM Lyall, FP Hartwig, BL Horta, E Hyppönen, C Power, M Moldovan, E van Iperen, GK Hovingh, I Demuth, K Norman, E Steinhagen-Thiessen, J Demuth, L Bertram, T Liu, S Coassin, J Willeit, S Kiechl, K Willeit, D Mason, J Wright, R Morris, G Wanamethee, P Whincup, Y Ben-Shlomo, S McLachlan, JF Price, M Kivimaki, C Welch, A Sanchez-Galvez, P Marques-Vidal, A Nicolaides, AG Panayiotou, NC Onland-Moret, YT van der Schouw, G Matullo, G Fiorito, S Guarrera, C Sacerdote, NJ Wareham, C Langenberg, R Scott, J Luan, M Bobak, S Malyutina, A Pająk, R Kubinova, A Tamosiunas, H Pikhart, LL Husemoen, N Grarup, O Pedersen, T Hansen, A Linneberg, KS Simonsen, J Cooper, SE Humphries, M Brilliant, T Kitchner, H Hakonarson, DS Carrell, CA McCarty, HL Kirchner, EB Larson, DR Crosslin, M de Andrade, DM Roden, JC Denny, C Carty, S Hancock, J Attia, E Holliday, M O'Donnell, S Yusuf, M Chong, G Pare, P van der Harst, MA Said, RN Eppinga, N Verweij, H Snieder, , T Christen, DO Mook-Kanamori, S Gustafsson, L Lind, E Ingelsson, R Pazoki, O Franco, A Hofman, A Uitterlinden, A Dehghan, A Teumer, S Baumeister, M Dörr, MM Lerch, U Völker, H Völzke, J Ward, JP Pell, DJ Smith, T Meade, AH Maitland-van der Zee, EV Baranova, R Young, I Ford, A Campbell, S Padmanabhan, ML Bots, DE Grobbee, P Froguel, D Thuillier, B Balkau, A Bonnefond, B Cariou, M Smart, Y Bao, M Kumari, A Mahajan, PM Ridker, DI Chasman, AP Reiner, LA Lange, MD Ritchie, FW Asselbergs, JP Casas, BJ Keating, D Preiss, AD Hingorani, , N Sattar
Publication Date: 2017-02

Variant appearance in text: rs11591147
PMID: 27908689
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A 19-SNP coronary heart disease gene score profile in subjects with type 2 diabetes: the coronary heart disease risk in type 2 diabetes (CoRDia study) study baseline characteristics.

Cardiovascular Diabetology
KE Beaney, CE Ward, DA Bappa, N McGale, AK Davies, SP Hirani, K Li, P Howard, DR Vance, MA Crockard, JV Lamont, S Newman, SE Humphries
Publication Date: 2016-10-03

Variant appearance in text: rs11591147
PMID: 27716211
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Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

Nature Genetics
V Iotchkova, J Huang, JA Morris, D Jain, C Barbieri, K Walter, JL Min, L Chen, W Astle, M Cocca, P Deelen, H Elding, AE Farmaki, CS Franklin, M Franberg, TR Gaunt, A Hofman, T Jiang, ME Kleber, G Lachance, J Luan, G Malerba, A Matchan, D Mead, Y Memari, I Ntalla, K Panoutsopoulou, R Pazoki, JRB Perry, F Rivadeneira, M Sabater-Lleal, B Sennblad, SY Shin, L Southam, M Traglia, F van Dijk, EM van Leeuwen, G Zaza, W Zhang, , N Amin, A Butterworth, JC Chambers, G Dedoussis, A Dehghan, OH Franco, L Franke, M Frontini, G Gambaro, P Gasparini, A Hamsten, A Issacs, JS Kooner, C Kooperberg, C Langenberg, W Marz, RA Scott, MA Swertz, D Toniolo, AG Uitterlinden, CM van Duijn, H Watkins, E Zeggini, MT Maurano, NJ Timpson, AP Reiner, PL Auer, N Soranzo
Publication Date: 2016-11

Variant appearance in text: rs11591147
PMID: 27668658
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Comparison of variance estimators for meta-analysis of instrumental variable estimates.

International Journal Of Epidemiology
AF Schmidt, AD Hingorani, BJ Jefferis, J White, R Groenwold, F Dudbridge,
Publication Date: 2016-12-01

Variant appearance in text: rs11591147
PMID: 27591262
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Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
S Kanoni, NG Masca, KE Stirrups, TV Varga, HR Warren, RA Scott, L Southam, W Zhang, H Yaghootkar, M Müller-Nurasyid, A Couto Alves, RJ Strawbridge, L Lataniotis, N An Hashim, C Besse, A Boland, PS Braund, JM Connell, A Dominiczak, AE Farmaki, S Franks, H Grallert, JH Jansson, M Karaleftheri, S Keinänen-Kiukaanniemi, A Matchan, D Pasko, A Peters, N Poulter, NW Rayner, F Renström, O Rolandsson, M Sabater-Lleal, B Sennblad, P Sever, D Shields, A Silveira, AV Stanton, K Strauch, M Tomaszewski, E Tsafantakis, M Waldenberger, AI Blakemore, G Dedoussis, SA Escher, JS Kooner, MI McCarthy, CN Palmer, , A Hamsten, MJ Caulfield, TM Frayling, MD Tobin, MR Jarvelin, E Zeggini, C Gieger, JC Chambers, NJ Wareham, PB Munroe, PW Franks, NJ Samani, P Deloukas
Publication Date: 2016-09-15

Variant appearance in text: rs11591147
PMID: 27466198
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Influence of Genetic Risk Factors on Coronary Heart Disease Occurrence in Afro-Caribbeans.

The Canadian Journal Of Cardiology
L Larifla, KE Beaney, L Foucan, J Bangou, CT Michel, J Martino, FL Velayoudom-Cephise, JA Cooper, SE Humphries
Publication Date: 2016-08

Variant appearance in text: rs11591147
PMID: 26971241
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Experimental Biology for the Identification of Causal Pathways in Atherosclerosis.

Cardiovascular Drugs And Therapy
Y Guo, MT Garcia-Barrio, L Wang, YE Chen
Publication Date: 2016-02

Variant appearance in text: rs11591147
PMID: 26847647
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FINEMAP: efficient variable selection using summary data from genome-wide association studies.

Bioinformatics (Oxford, England)
C Benner, CC Spencer, AS Havulinna, V Salomaa, S Ripatti, M Pirinen
Publication Date: 2016-05-15

Variant appearance in text: rs11591147
PMID: 26773131
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Association between the DOCK7, PCSK9 and GALNT2 Gene Polymorphisms and Serum Lipid levels.

Scientific Reports
T Guo, RX Yin, F Huang, LM Yao, WX Lin, SL Pan
Publication Date: 2016-01-08

Variant appearance in text: rs11591147
PMID: 26744084
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Networks in Coronary Heart Disease Genetics As a Step towards Systems Epidemiology.

Plos One
F Drenos, E Grossi, M Buscema, SE Humphries
Publication Date: 2015

Variant appearance in text: N/A
PMID: 25951190
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Developing genomic knowledge bases and databases to support clinical management: current perspectives.

Pharmacogenomics And Personalized Medicine
V Huser, M Sincan, JJ Cimino
Publication Date: 2014

Variant appearance in text: rs11591147
PMID: 25276091
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Linkage analysis incorporating gene-age interactions identifies seven novel lipid loci: the Family Blood Pressure Program.

Atherosclerosis
J Simino, R Kume, AT Kraja, ST Turner, CL Hanis, W Sheu, I Chen, C Jaquish, RS Cooper, A Chakravarti, T Quertermous, E Boerwinkle, SC Hunt, DC Rao
Publication Date: 2014-07

Variant appearance in text: rs11591147
PMID: 24819747
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Pharmacogenetics in cardiovascular disease: the challenge of moving from promise to realization: concepts discussed at the Canadian Network and Centre for Trials Internationally Network Conference (CANNeCTIN), June 2009.

Clinical Cardiology
PG Joseph, G Pare, S Ross, R Roberts, SS Anand
Publication Date: 2014-01

Variant appearance in text: rs11591147
PMID: 24105892
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No evidence of interaction between known lipid-associated genetic variants and smoking in the multi-ethnic PAGE population.

Human Genetics
L Dumitrescu, CL Carty, N Franceschini, LA Hindorff, SA Cole, P Bůžková, FR Schumacher, CB Eaton, RJ Goodloe, DJ Duggan, J Haessler, B Cochran, BE Henderson, I Cheng, KC Johnson, CS Carlson, SA Love, K Brown-Gentry, AQ Nato, M Quibrera, RV Shohet, JL Ambite, LR Wilkens, L Le Marchand, CA Haiman, S Buyske, C Kooperberg, KE North, M Fornage, DC Crawford
Publication Date: 2013-12

Variant appearance in text: rs11591147
PMID: 24100633
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The association of common SNPs and haplotypes in CETP gene with HDL cholesterol levels in Latvian population.

Plos One
I Radovica, D Fridmanis, I Vaivade, L Nikitina-Zake, J Klovins
Publication Date: 2013

Variant appearance in text: rs11591147
PMID: 23675527
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Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network.

Plos Genetics
SA Pendergrass, K Brown-Gentry, S Dudek, A Frase, ES Torstenson, R Goodloe, JL Ambite, CL Avery, S Buyske, P Bůžková, E Deelman, MD Fesinmeyer, CA Haiman, G Heiss, LA Hindorff, CN Hsu, RD Jackson, C Kooperberg, L Le Marchand, Y Lin, TC Matise, KR Monroe, L Moreland, SL Park, A Reiner, R Wallace, LR Wilkens, DC Crawford, MD Ritchie
Publication Date: 2013

Variant appearance in text: rs11591147
PMID: 23382687
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PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.

Journal Of Lipid Research
I Postmus, S Trompet, AJ de Craen, BM Buckley, I Ford, DJ Stott, N Sattar, PE Slagboom, RG Westendorp, JW Jukema
Publication Date: 2013-02

Variant appearance in text: rs11591147
PMID: 23300213
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Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

Journal Of Perinatology : Official Journal Of The California Perinatal Association
PC Mann, ME Cooper, KK Ryckman, B Comas, J Gili, S Crumley, EN Bream, HM Byers, T Piester, A Schaefer, PJ Christine, A Lawrence, KL Schaa, KJ Kelsey, SK Berends, AM Momany, E Gadow, V Cosentino, EE Castilla, J López Camelo, C Saleme, LJ Day, SK England, ML Marazita, JM Dagle, JC Murray
Publication Date: 2013-05

Variant appearance in text: rs11591147
PMID: 23018797
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Investigation of genetic risk factors for chronic adult diseases for association with preterm birth.

Human Genetics
N Falah, J McElroy, V Snegovskikh, CJ Lockwood, E Norwitz, JC Murray, E Kuczynski, R Menon, K Teramo, LJ Muglia, T Morgan
Publication Date: 2013-01

Variant appearance in text: rs11591147
PMID: 22972380
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Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium.

American Journal Of Human Genetics
Q Zhu, D Ge, EL Heinzen, SP Dickson, TJ Urban, M Zhu, JM Maia, M He, Q Zhao, KV Shianna, DB Goldstein
Publication Date: 2012-09-07

Variant appearance in text: rs11591147
PMID: 22939045
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Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

Plos One
K Musunuru, SP Romaine, G Lettre, JG Wilson, KA Volcik, MY Tsai, HA Taylor, PJ Schreiner, JI Rotter, SS Rich, S Redline, BM Psaty, GJ Papanicolaou, JM Ordovas, K Liu, RM Krauss, NL Glazer, SB Gabriel, M Fornage, LA Cupples, SG Buxbaum, E Boerwinkle, CM Ballantyne, S Kathiresan, DJ Rader
Publication Date: 2012

Variant appearance in text: rs11591147
PMID: 22629316
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Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics.

Biological Research For Nursing
CC Imes, MA Austin
Publication Date: 2013-07

Variant appearance in text: rs11591147
PMID: 22531366
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Genome-wide association study of genetic determinants of LDL-c response to atorvastatin therapy: importance of Lp(a).

Journal Of Lipid Research
HA Deshmukh, HM Colhoun, T Johnson, PM McKeigue, DJ Betteridge, PN Durrington, JH Fuller, S Livingstone, V Charlton-Menys, A Neil, N Poulter, P Sever, DC Shields, AV Stanton, A Chatterjee, C Hyde, RA Calle, DA Demicco, S Trompet, I Postmus, I Ford, JW Jukema, M Caulfield, GA Hitman,
Publication Date: 2012-05

Variant appearance in text: rs11591147
PMID: 22368281
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Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour.

Human Molecular Genetics
JF Peden, M Farrall
Publication Date: 2011-10-15

Variant appearance in text: rs11591147
PMID: 21875899
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Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
P Jeemon, K Pettigrew, C Sainsbury, D Prabhakaran, S Padmanabhan
Publication Date: 2011-07-26

Variant appearance in text: rs11591147
PMID: 21860704
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Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.

Plos Genetics
L Dumitrescu, CL Carty, K Taylor, FR Schumacher, LA Hindorff, JL Ambite, G Anderson, LG Best, K Brown-Gentry, P Bůžková, CS Carlson, B Cochran, SA Cole, RB Devereux, D Duggan, CB Eaton, M Fornage, N Franceschini, J Haessler, BV Howard, KC Johnson, S Laston, LN Kolonel, ET Lee, JW MacCluer, TA Manolio, SA Pendergrass, M Quibrera, RV Shohet, LR Wilkens, CA Haiman, L Le Marchand, S Buyske, C Kooperberg, KE North, DC Crawford
Publication Date: 2011-06

Variant appearance in text: rs11591147
PMID: 21738485
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Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

European Journal Of Epidemiology
AC Janssens, JP Ioannidis, S Bedrosian, P Boffetta, SM Dolan, N Dowling, I Fortier, AN Freedman, JM Grimshaw, J Gulcher, M Gwinn, MA Hlatky, H Janes, P Kraft, S Melillo, CJ O'Donnell, MJ Pencina, D Ransohoff, SD Schully, D Seminara, DM Winn, CF Wright, CM van Duijn, J Little, MJ Khoury
Publication Date: 2011-04

Variant appearance in text: rs11591147
PMID: 21424820
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Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

European Journal Of Human Genetics : Ejhg
AC Janssens, JP Ioannidis, S Bedrosian, P Boffetta, SM Dolan, N Dowling, I Fortier, AN Freedman, JM Grimshaw, J Gulcher, M Gwinn, MA Hlatky, H Janes, P Kraft, S Melillo, CJ O'Donnell, MJ Pencina, D Ransohoff, SD Schully, D Seminara, DM Winn, CF Wright, CM van Duijn, J Little, MJ Khoury
Publication Date: 2011-05

Variant appearance in text: rs11591147
PMID: 21407270
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: rs11591147
PMID: 20876667
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Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes.

Bmc Proceedings
JS Hamid, NM Roslin, AD Paterson, J Beyene
Publication Date: 2009-12-15

Variant appearance in text: rs11591147
PMID: 20018036
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Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

Lipids In Health And Disease
J Ronald, R Rajagopalan, JE Ranchalis, JK Marshall, TS Hatsukami, PJ Heagerty, GP Jarvik
Publication Date: 2009-12-01

Variant appearance in text: rs11591147
PMID: 19951432
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Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

American Journal Of Human Genetics
PJ Talmud, F Drenos, S Shah, T Shah, J Palmen, C Verzilli, TR Gaunt, J Pallas, R Lovering, K Li, JP Casas, R Sofat, M Kumari, S Rodriguez, T Johnson, SJ Newhouse, A Dominiczak, NJ Samani, M Caulfield, P Sever, A Stanton, DC Shields, S Padmanabhan, O Melander, C Hastie, C Delles, S Ebrahim, MG Marmot, GD Smith, DA Lawlor, PB Munroe, IN Day, M Kivimaki, J Whittaker, SE Humphries, AD Hingorani, , ,
Publication Date: 2009-11

Variant appearance in text: rs11591147
PMID: 19913121
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Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.

Circulation. Cardiovascular Genetics
DI Chasman, G Paré, RY Zee, AN Parker, NR Cook, JE Buring, DJ Kwiatkowski, LM Rose, JD Smith, PT Williams, MJ Rieder, JI Rotter, DA Nickerson, RM Krauss, JP Miletich, PM Ridker
Publication Date: 2008-10

Variant appearance in text: rs11591147
PMID: 19802338
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A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women.

Journal Of Lipid Research
V Hamrefors, M Orho-Melander, RM Krauss, B Hedblad, P Almgren, G Berglund, O Melander
Publication Date: 2010-03

Variant appearance in text: rs11591147
PMID: 19773416
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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Proceedings Of The National Academy Of Sciences Of The United States Of America
LA Hindorff, P Sethupathy, HA Junkins, EM Ramos, JP Mehta, FS Collins, TA Manolio
Publication Date: 2009-06-09

Variant appearance in text: PCSK9: R46L; rs11591147
PMID: 19474294
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Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics
F Drenos, PJ Talmud, JP Casas, L Smeeth, J Palmen, SE Humphries, AD Hingorani
Publication Date: 2009-06-15

Variant appearance in text: rs11591147
PMID: 19336475
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Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.

Plos Genetics
RC Deo, D Reich, A Tandon, E Akylbekova, N Patterson, A Waliszewska, S Kathiresan, D Sarpong, HA Taylor, JG Wilson
Publication Date: 2009-01

Variant appearance in text: rs11591147
PMID: 19148283
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Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Nature Genetics
YS Aulchenko, S Ripatti, I Lindqvist, D Boomsma, IM Heid, PP Pramstaller, BW Penninx, AC Janssens, JF Wilson, T Spector, NG Martin, NL Pedersen, KO Kyvik, J Kaprio, A Hofman, NB Freimer, MR Jarvelin, U Gyllensten, H Campbell, I Rudan, A Johansson, F Marroni, C Hayward, V Vitart, I Jonasson, C Pattaro, A Wright, N Hastie, I Pichler, AA Hicks, M Falchi, G Willemsen, JJ Hottenga, EJ de Geus, GW Montgomery, J Whitfield, P Magnusson, J Saharinen, M Perola, K Silander, A Isaacs, EJ Sijbrands, AG Uitterlinden, JC Witteman, BA Oostra, P Elliott, A Ruokonen, C Sabatti, C Gieger, T Meitinger, F Kronenberg, A Döring, HE Wichmann, JH Smit, MI McCarthy, CM van Duijn, L Peltonen,
Publication Date: 2009-01

Variant appearance in text: rs11591147
PMID: 19060911
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Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

Nature Genetics
S Kathiresan, O Melander, C Guiducci, A Surti, NP Burtt, MJ Rieder, GM Cooper, C Roos, BF Voight, AS Havulinna, B Wahlstrand, T Hedner, D Corella, ES Tai, JM Ordovas, G Berglund, E Vartiainen, P Jousilahti, B Hedblad, MR Taskinen, C Newton-Cheh, V Salomaa, L Peltonen, L Groop, DM Altshuler, M Orho-Melander
Publication Date: 2008-02

Variant appearance in text: rs11591147
PMID: 18193044
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A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.

Bmc Medical Genetics
S Kathiresan, AK Manning, S Demissie, RB D'Agostino, A Surti, C Guiducci, L Gianniny, NP Burtt, O Melander, M Orho-Melander, DK Arnett, GM Peloso, JM Ordovas, LA Cupples
Publication Date: 2007-09-19

Variant appearance in text: rs11591147
PMID: 17903299
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.137G>A p.Arg46His missense_variant 1/12 -
ENST00000452118.2 c.137G>A p.Arg46His missense_variant 1/6 -
NM_174936.4 c.137G>A p.Arg46His missense_variant 1/12 -