Variant ID: 19-11227602-C-T

NM_000527.4(LDLR):c.1773C>T;(p.Asn591Asn)

This variant was identified in 118 publications




Publications:


Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Journal Of Clinical Medicine
CE Vlad, LG Foia, R Popescu, I Popa, R Aanicai, D Reurean-Pintilei, V Toma, L Florea, M Kanbay, A Covic
Publication Date: 2021-03-31

Variant appearance in text: LDLR: 1773C>T; Asn591=
PubMed Link: 33807407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma lipid levels and risk of primary open angle glaucoma: a genetic study using Mendelian randomization.

Bmc Ophthalmology
M Xu, S Li, J Zhu, D Luo, W Song, M Zhou
Publication Date: 2020-10-02

Variant appearance in text: rs688
PubMed Link: 33008364
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Candidate Gene Polymorphism with Metabolic Syndrome among Mongolian Subjects: A Case-Control Study.

Medical Sciences (Basel, Switzerland)
A Chuluun-Erdene, O Sengeragchaa, TA Altangerel, P Sanjmyatav, B Dagdan, S Battulga, L Enkhbat, N Byambasuren, M Malchinkhuu, M Janlav
Publication Date: 2020-09-02

Variant appearance in text: LDLR: Asn591Asn; rs688
PubMed Link: 32887252
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction between Sex and LDLR rs688 Polymorphism on Hyperlipidemia among Taiwan Biobank Adult Participants.

Biomolecules
YT Liu, ON Nfor, L Wang, SY Hsu, CC Lung, DM Tantoh, MC Wu, HR Chang, YP Liaw
Publication Date: 2020-02-05

Variant appearance in text: rs688
PubMed Link: 32033407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of blood lipids and cerebral small vessel disease: role of high-density lipoprotein cholesterol.

Brain : A Journal Of Neurology
MK Georgakis, R Malik, CD Anderson, KG Parhofer, JC Hopewell, M Dichgans
Publication Date: 2020-02-01

Variant appearance in text: rs688
PubMed Link: 31968102
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page



Utility of genetic variants to predict prognosis in coronary artery disease patients receiving statin treatment.

International Journal Of Clinical And Experimental Pathology
L Zhu, X Ji, L Jiang, Y Zhu, Y Xu, Q Jiang, J Bao, J Ye, H Sheng, H Yu
Publication Date: 2017

Variant appearance in text: rs688
PubMed Link: 31966745
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progressive effects of single-nucleotide polymorphisms on 16 phenotypic traits based on longitudinal data.

Genes & Genomics
D Li, H Kang, S Lee, S Won
Publication Date: 2020-04

Variant appearance in text: rs688
PubMed Link: 31902109
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.

Scientific Reports
M Vacher, T Porter, VL Villemagne, L Milicic, M Peretti, C Fowler, R Martins, S Rainey-Smith, D Ames, CL Masters, CC Rowe, JD Doecke, SM Laws
Publication Date: 2019-11-19

Variant appearance in text: rs688
PubMed Link: 31745181
Variant Present in the following documents:
  • 41598_2019_53604_MOESM1_ESM.xlsx
  • 41598_2019_53604_MOESM2_ESM.xlsx
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: rs688
PubMed Link: 31719535
Variant Present in the following documents:
  • 41467_2019_12958_MOESM7_ESM.xlsx
View BVdb publication page



Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
HS AlSafar, M Al-Ali, GD Elbait, MH Al-Maini, D Ruta, B Peramo, A Henschel, GK Tay
Publication Date: 2019-10-11

Variant appearance in text: rs688
PubMed Link: 31604968
Variant Present in the following documents:
  • 41598_2019_50876_MOESM1_ESM.xlsx
View BVdb publication page



Robust methods in Mendelian randomization via penalization of heterogeneous causal estimates.

Plos One
JMB Rees, AM Wood, F Dudbridge, S Burgess
Publication Date: 2019

Variant appearance in text: rs688
PubMed Link: 31545794
Variant Present in the following documents:
  • pone.0222362.s001.pdf
View BVdb publication page



Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Journal Of Medical Genetics
M Codina-Sola, M Costa-Roger, D Pérez-García, R Flores, MG Palacios-Verdú, I Cusco, LA Pérez-Jurado
Publication Date: 2019-12

Variant appearance in text: rs688
PubMed Link: 31413120
Variant Present in the following documents:
  • jmedgenet-2019-106080supp001.pdf
View BVdb publication page



Reduced Proprotein convertase subtilisin/kexin 9 (PCSK9) function increases lipoteichoic acid clearance and improves outcomes in Gram positive septic shock patients.

Scientific Reports
AKK Leung, KR Genga, E Topchiy, M Cirstea, T Shimada, C Fjell, JA Russell, JH Boyd, KR Walley
Publication Date: 2019-07-22

Variant appearance in text: rs688
PubMed Link: 31332258
Variant Present in the following documents:
  • 41598_2019_46745_MOESM1_ESM.docx
  • Main text
View BVdb publication page



LDLR Gene Polymorphisms (rs5925 and rs1529729) Are Associated with Susceptibility to Coronary Artery Disease in a South Indian Population.

Medical Sciences (Basel, Switzerland)
C K Jha, R Mir, I Elfaki, S Banu, SMS Chahal
Publication Date: 2019-07-15

Variant appearance in text: rs688
PubMed Link: 31311124
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection.

Scientific Reports
LM Real, J Macías, A Rivero-Juárez, F Téllez, D Merino, S Moreno-Grau, A Orellana, J Gómez-Salgado, ME Sáez, M Frías, A Corma-Gómez, N Merchante, A Ruiz, A Caruz, JA Pineda,
Publication Date: 2019-06-21

Variant appearance in text: rs688
PubMed Link: 31227787
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the Association of Omentin 1 rs2274907 A>T and rs2274908 G>A Gene Polymorphisms with Coronary Artery Disease in Indian Population: A Case Control Study.

Journal Of Personalized Medicine
CK Jha, R Mir, I Elfaki, J Javid, AT Babakr, S Banu, SMS Chahal
Publication Date: 2019-06-06

Variant appearance in text: rs688
PubMed Link: 31174318
Variant Present in the following documents:
  • jpm-09-00030.pdf
View BVdb publication page



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: rs688
PubMed Link: 30694319
Variant Present in the following documents:
  • jama-321-364-s001.pdf
View BVdb publication page



Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

American Journal Of Human Genetics
M Ganapathi, LR Padgett, K Yamada, O Devinsky, R Willaert, R Person, PB Au, J Tagoe, M McDonald, D Karlowicz, B Wolf, J Lee, Y Shen, V Okur, L Deng, CA LeDuc, J Wang, A Hanner, RG Mirmira, MH Park, TL Mastracci, WK Chung
Publication Date: 2019-02-07

Variant appearance in text: rs688
PubMed Link: 30661771
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
  • mmc2.xlsx
View BVdb publication page



Genetic Polymorphisms Associated with Spontaneous Intracerebral Hemorrhage.

International Journal Of Molecular Sciences
YC Chen, KH Chang, CM Chen
Publication Date: 2018-12-04

Variant appearance in text: rs688
PubMed Link: 30518145
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nutrigenetic Contributions to Dyslipidemia: A Focus on Physiologically Relevant Pathways of Lipid and Lipoprotein Metabolism.

Nutrients
BA Hannon, NA Khan, M Teran-Garcia
Publication Date: 2018-10-02

Variant appearance in text: rs688
PubMed Link: 30279335
Variant Present in the following documents:
  • Main text
View BVdb publication page



SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.

Liver International : Official Journal Of The International Association For The Study Of The Liver
GS Steba, SM Koekkoek, MWT Tanck, JW Vanhommerig, JTM van der Meer, D Kwa, K Brinkman, M Prins, B Berkhout, G Pollakis, R Molenkamp, J Schinkel, WA Paxton,
Publication Date: 2019-03

Variant appearance in text: rs688
PubMed Link: 30260075
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease-A Case-Control Study.

Journal Of Cardiovascular Development And Disease
CK Jha, R Mir, N Khullar, S Banu, SMS Chahal
Publication Date: 2018-05-29

Variant appearance in text: rs688
PubMed Link: 29843469
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOB codon 4311 polymorphism is associated with hepatitis C virus infection through altered lipid metabolism.

Bmc Gastroenterology
R Harada, M Kimura, Y Sato, T Taniguchi, T Tomonari, T Tanaka, H Tanaka, N Muguruma, H Shinomiya, H Honda, I Imoto, M Sogabe, T Okahisa, T Takayama
Publication Date: 2018-01-30

Variant appearance in text: rs688
PubMed Link: 29382324
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Association of Lipids and Lipid Drug Targets With Abdominal Aortic Aneurysm: A Meta-analysis.

Jama Cardiology
SC Harrison, MV Holmes, S Burgess, FW Asselbergs, GT Jones, AF Baas, FN van 't Hof, PIW de Bakker, JD Blankensteijn, JT Powell, A Saratzis, GJ de Borst, DI Swerdlow, Y van der Graaf, AM van Rij, DJ Carey, JR Elmore, G Tromp, H Kuivaniemi, RD Sayers, NJ Samani, MJ Bown, SE Humphries
Publication Date: 2018-01-01

Variant appearance in text: rs688
PubMed Link: 29188294
Variant Present in the following documents:
  • jamacardiol-3-26-s001.pdf
View BVdb publication page



Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

Plos Genetics
JP Davis, JR Huyghe, AE Locke, AU Jackson, X Sim, HM Stringham, TM Teslovich, RP Welch, C Fuchsberger, N Narisu, PS Chines, AJ Kangas, P Soininen, M Ala-Korpela, J Kuusisto, FS Collins, M Laakso, M Boehnke, KL Mohlke
Publication Date: 2017-10

Variant appearance in text: rs688
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
View BVdb publication page



Sex Differences in Blood HDL-c, the Total Cholesterol/HDL-c Ratio, and Palmitoleic Acid are Not Associated with Variants in Common Candidate Genes.

Lipids
SL Klingel, K Roke, B Hidalgo, S Aslibekyan, RJ Straka, P An, MA Province, PN Hopkins, DK Arnett, JM Ordovas, CQ Lai, DM Mutch
Publication Date: 2017-12

Variant appearance in text: rs688
PubMed Link: 29080057
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional variants in the low-density lipoprotein receptor gene are associated with clear cell renal cell carcinoma susceptibility.

Carcinogenesis
GM Zhang, MY Wang, YN Liu, Y Zhu, FN Wan, QY Wei, DW Ye
Publication Date: 2017-12-07

Variant appearance in text: rs688
PubMed Link: 29029037
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.

Genetics And Molecular Research : Gmr
GA Molfetta, DL Zanette, JE Santos, WA Silva
Publication Date: 2017-08-31

Variant appearance in text: LDLR: N591N; rs688
PubMed Link: 28873201
Variant Present in the following documents:
  • Main text
View BVdb publication page



The association of lipid metabolism relative gene polymorphisms and ischemic stroke in Han and Uighur population of Xinjiang.

Lipids In Health And Disease
YH Yue, LY Liu, L Hu, YM Li, JP Mao, XY Yang, NM Dila
Publication Date: 2017-06-17

Variant appearance in text: LDLR: Asn591Asn; rs688
PubMed Link: 28623937
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
CS Paththinige, ND Sirisena, V Dissanayake
Publication Date: 2017-06-02

Variant appearance in text: rs688
PubMed Link: 28577571
Variant Present in the following documents:
  • 12944_2017_488_MOESM1_ESM.xlsx
  • Main text
View BVdb publication page



Mendelian Randomization Implicates High-Density Lipoprotein Cholesterol-Associated Mechanisms in Etiology of Age-Related Macular Degeneration.

Ophthalmology
S Burgess, G Davey Smith
Publication Date: 2017-08

Variant appearance in text: rs688
PubMed Link: 28456421
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg
MS Safarova, EW Klee, LM Baudhuin, EM Winkler, ML Kluge, SJ Bielinski, JE Olson, IJ Kullo
Publication Date: 2017-04

Variant appearance in text: LDLR: 1773C>T; Asn591Asn; rs688
PubMed Link: 28145427
Variant Present in the following documents:
  • ejhg2016193x2.xlsx
View BVdb publication page



PECAM-1 Leu125Val (rs688) Polymorphism and Diabetic Nephropathy in Caucasians with Type 2 Diabetes Mellitus.

Analytical Cellular Pathology (Amsterdam)
M Završnik, S Kariž, J Makuc, M Šeruga, I Cilenšek, D Petrovič
Publication Date: 2016

Variant appearance in text: rs688
PubMed Link: 28116228
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD.

Plos One
RH Fairoozy, J White, J Palmen, AZ Kalea, SE Humphries
Publication Date: 2016

Variant appearance in text: rs688
PubMed Link: 27973560
Variant Present in the following documents:
  • Main text
View BVdb publication page



PECAM-1 gene polymorphism (rs668) and subclinical markers of carotid atherosclerosis in patients with type 2 diabetes mellitus.

Balkan Journal Of Medical Genetics : Bjmg
D Popović, J Nikolajević Starčević, M Šantl Letonja, J Makuc, A Cokan Vujkovac, H Reschner, D Bregar, D Petrovič
Publication Date: 2016-07-01

Variant appearance in text: rs688
PubMed Link: 27785409
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDLR C1725T Gene Polymorphism Frequency in Type 2 Diabetes Mellitus Patients With Dyslipidemia.

Journal Of Clinical Medicine Research
Z Eroglu, E Harman, E Vardarli, M Kayikcioglu, AT Vardarli
Publication Date: 2016-11

Variant appearance in text: rs688
PubMed Link: 27738480
Variant Present in the following documents:
  • Main text
View BVdb publication page



LEP, LDLR and APOA4 gene polymorphisms and their relationship with the risk of overweight, obesity and chronic diseases in adults of the State of Sucre, Venezuela.

Biomedica : Revista Del Instituto Nacional De Salud
G Rodríguez-Arroyo, I Paradisi, M Vívenes-Lugo, D Castro-Guerra, Á Rodríguez-Larralde
Publication Date: 2016-03-03

Variant appearance in text: rs688
PubMed Link: 27622441
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Lipopolysaccharide Is Cleared from the Circulation by Hepatocytes via the Low Density Lipoprotein Receptor.

Plos One
E Topchiy, M Cirstea, HJ Kong, JH Boyd, Y Wang, JA Russell, KR Walley
Publication Date: 2016

Variant appearance in text: rs688
PubMed Link: 27171436
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Arg59Trp variant in ANGPTL8 (betatrophin) is associated with total and HDL-cholesterol in American Indians and Mexican Americans and differentially affects cleavage of ANGPTL3.

Molecular Genetics And Metabolism
RL Hanson, F Leti, D Tsinajinnie, S Kobes, S Puppala, JE Curran, L Almasy, DM Lehman, J Blangero, R Duggirala, JK DiStefano
Publication Date: 2016-06

Variant appearance in text: rs688
PubMed Link: 27117576
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common Variants in Cholesterol Synthesis- and Transport-Related Genes Associate with Circulating Cholesterol Responses to Intakes of Conventional Dairy Products in Healthy Individuals.

The Journal Of Nutrition
MM Abdullah, A Cyr, MC Lépine, PK Eck, P Couture, B Lamarche, PJ Jones
Publication Date: 2016-05

Variant appearance in text: rs688
PubMed Link: 27052530
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Multiple genetic imaging study of the association between cholesterol metabolism and brain functional alterations in individuals with risk factors for Alzheimer's disease.

Oncotarget
F Bai, Y Yuan, Y Shi, Z Zhang
Publication Date: 2016-03-29

Variant appearance in text: rs688
PubMed Link: 26985771
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
M Sharifi, M Walus-Miarka, B Idzior-Waluś, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries
Publication Date: 2016-03

Variant appearance in text: rs688
PubMed Link: 26892515
Variant Present in the following documents:
  • mmc1.doc
View BVdb publication page



Association study of BUD13-ZNF259 gene rs964184 polymorphism and hemorrhagic stroke risk.

International Journal Of Clinical And Experimental Medicine
S Zhou, J Zhao, Z Wang, K Li, S Nie, F Gao, J Sun, X Gao, Y Huang
Publication Date: 2015

Variant appearance in text: rs688
PubMed Link: 26885234
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.

Plos One
E Ochoa, M Iriondo, C Manzano, A Fullaondo, I Villar, G Ruiz-Irastorza, AM Zubiaga, A Estonba
Publication Date: 2016

Variant appearance in text: rs688
PubMed Link: 26820623
Variant Present in the following documents:
  • pone.0146990.s002.doc
View BVdb publication page



Lipids, blood pressure and kidney update 2015.

Lipids In Health And Disease
M Banach, WS Aronow, MC Serban, J Rysz, L Voroneanu, A Covic
Publication Date: 2015-12-30

Variant appearance in text: rs688
PubMed Link: 26718096
Variant Present in the following documents:
  • Main text
View BVdb publication page



Virtual Pharmacist: A Platform for Pharmacogenomics.

Plos One
R Cheng, RK Leung, Y Chen, Y Pan, Y Tong, Z Li, L Ning, XB Ling, J He
Publication Date: 2015

Variant appearance in text: rs688
PubMed Link: 26496198
Variant Present in the following documents:
  • pone.0141105.s004.xls
View BVdb publication page



Genomic Study of Cardiovascular Continuum Comorbidity.

Acta Naturae
OA Makeeva, AA Sleptsov, EV Kulish, OL Barbarash, AM Mazur, EB Prokhorchuk, NN Chekanov, VA Stepanov, VP Puzyrev
Publication Date: 2015

Variant appearance in text: rs688
PubMed Link: 26483964
Variant Present in the following documents:
  • Main text
View BVdb publication page



The nitric oxide synthase 3 G894T polymorphism associated with Alzheimer's disease risk: a meta-analysis.

Scientific Reports
S Liu, F Zeng, C Wang, Z Chen, B Zhao, K Li
Publication Date: 2015-09-04

Variant appearance in text: rs688
PubMed Link: 26337484
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

Plos Genetics
S Gretarsdottir, H Helgason, A Helgadottir, A Sigurdsson, G Thorleifsson, A Magnusdottir, A Oddsson, V Steinthorsdottir, T Rafnar, J de Graaf, MS Daneshpour, M Hedayati, F Azizi, N Grarup, T Jørgensen, H Vestergaard, T Hansen, G Eyjolfsson, O Sigurdardottir, I Olafsson, LA Kiemeney, O Pedersen, P Sulem, G Thorgeirsson, DF Gudbjartsson, H Holm, U Thorsteinsdottir, K Stefansson
Publication Date: 2015-09

Variant appearance in text: rs688
PubMed Link: 26327206
Variant Present in the following documents:
  • pgen.1005379.s008.xlsx
  • pgen.1005379.s016.docx
View BVdb publication page



Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
Publication Date: 2015-06-26

Variant appearance in text: rs688
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM3_ESM.xls
View BVdb publication page



Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.

Nature Communications
B Bissig-Choisat, L Wang, X Legras, PK Saha, L Chen, P Bell, FP Pankowicz, MC Hill, M Barzi, CK Leyton, HE Leung, RL Kruse, RW Himes, JA Goss, JM Wilson, L Chan, WR Lagor, KD Bissig
Publication Date: 2015-06-17

Variant appearance in text: LDLR: 1773C>T; Asn591Asn; rs688
PubMed Link: 26081744
Variant Present in the following documents:
  • ncomms8339-s1.pdf
View BVdb publication page



Evidence for Clinical Implementation of Pharmacogenomics in Cardiac Drugs.

Mayo Clinic Proceedings
AL Kaufman, J Spitz, M Jacobs, M Sorrentino, S Yuen, K Danahey, D Saner, TE Klein, RB Altman, MJ Ratain, PH O'Donnell
Publication Date: 2015-06

Variant appearance in text: rs688
PubMed Link: 26046407
Variant Present in the following documents:
  • Main text
  • NIHMS676556-supplement-4.pdf
View BVdb publication page



PCSK9 inhibition to reduce cardiovascular disease risk: recent findings from the biology of PCSK9.

Current Opinion In Endocrinology, Diabetes, And Obesity
H Tavori, I Giunzioni, S Fazio
Publication Date: 2015-04

Variant appearance in text: rs688
PubMed Link: 25692926
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene
T Cymbron, P Mendes, A Ramos, M Raposo, N Kazachkova, AM Medeiros, J Bruges-Armas, M Bourbon, M Lima
Publication Date: 2014-12

Variant appearance in text: LDLR: Asn591Asn; rs688
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
View BVdb publication page



On the function and homeostasis of PCSK9: reciprocal interaction with LDLR and additional lipid effects.

Atherosclerosis
H Tavori, S Rashid, S Fazio
Publication Date: 2015-02

Variant appearance in text: rs688
PubMed Link: 25544176
Variant Present in the following documents:
  • Main text
View BVdb publication page



Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Clinical Chemistry
M Futema, S Shah, JA Cooper, K Li, RA Whittall, M Sharifi, O Goldberg, E Drogari, V Mollaki, A Wiegman, J Defesche, MN D'Agostino, A D'Angelo, P Rubba, G Fortunato, M Waluś-Miarka, RA Hegele, M Aderayo Bamimore, R Durst, E Leitersdorf, MT Mulder, JE Roeters van Lennep, EJ Sijbrands, JC Whittaker, PJ Talmud, SE Humphries
Publication Date: 2015-01

Variant appearance in text: rs688
PubMed Link: 25414277
Variant Present in the following documents:
  • NIHMS63163-supplement-Supplementary_Data.docx
View BVdb publication page



PCSK9 is a critical regulator of the innate immune response and septic shock outcome.

Science Translational Medicine
KR Walley, KR Thain, JA Russell, MP Reilly, NJ Meyer, JF Ferguson, JD Christie, TA Nakada, CD Fjell, SA Thair, MS Cirstea, JH Boyd
Publication Date: 2014-10-15

Variant appearance in text: rs688
PubMed Link: 25320235
Variant Present in the following documents:
  • Main text
  • NIHMS663192-supplement-1.pdf
View BVdb publication page



A genome-wide pleiotropy scan for prostate cancer risk.

European Urology
OA Panagiotou, RC Travis, D Campa, SI Berndt, S Lindstrom, P Kraft, FR Schumacher, A Siddiq, SI Papatheodorou, JL Stanford, D Albanes, J Virtamo, SJ Weinstein, WR Diver, SM Gapstur, VL Stevens, H Boeing, HB Bueno-de-Mesquita, A Barricarte Gurrea, R Kaaks, KT Khaw, V Krogh, K Overvad, E Riboli, D Trichopoulos, E Giovannucci, M Stampfer, C Haiman, B Henderson, L Le Marchand, JM Gaziano, DJ Hunter, S Koutros, M Yeager, RN Hoover, , SJ Chanock, S Wacholder, TJ Key, KK Tsilidis
Publication Date: 2015-04

Variant appearance in text: rs688
PubMed Link: 25277271
Variant Present in the following documents:
  • NIHMS628904-supplement-Suppl__1.doc
View BVdb publication page



Multiple associated variants increase the heritability explained for plasma lipids and coronary artery disease.

Circulation. Cardiovascular Genetics
H Tada, HH Won, O Melander, J Yang, GM Peloso, S Kathiresan
Publication Date: 2014-10

Variant appearance in text: rs688
PubMed Link: 25170055
Variant Present in the following documents:
  • NIHMS664832-supplement-supplement.doc
View BVdb publication page



Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
JY Kim, HS Cheong, TJ Park, HJ Shin, DW Seo, HS Na, MW Chung, HD Shin
Publication Date: 2014-07

Variant appearance in text: rs688
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical epidemiology of Alzheimer's disease: assessing sex and gender differences.

Clinical Epidemiology
MM Mielke, P Vemuri, WA Rocca
Publication Date: 2014

Variant appearance in text: rs688
PubMed Link: 24470773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics
TY Komarova, VA Korneva, TY Kuznetsova, AS Golovina, VB Vasilyev, MY Mandelshtam
Publication Date: 2013-12-27

Variant appearance in text: LDLR: Asn591=; rs688
PubMed Link: 24373485
Variant Present in the following documents:
  • Main text
View BVdb publication page



The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism.

Biomed Research International
ER de Almeida, EM Reiche, AP Kallaur, T Flauzino, MA Watanabe
Publication Date: 2013

Variant appearance in text: rs688
PubMed Link: 24319689
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants associated with plasma triglycerides and risk for coronary artery disease.

Nature Genetics
R Do, CJ Willer, EM Schmidt, S Sengupta, C Gao, GM Peloso, S Gustafsson, S Kanoni, A Ganna, J Chen, ML Buchkovich, S Mora, JS Beckmann, JL Bragg-Gresham, HY Chang, A Demirkan, HM Den Hertog, LA Donnelly, GB Ehret, T Esko, MF Feitosa, T Ferreira, K Fischer, P Fontanillas, RM Fraser, DF Freitag, D Gurdasani, K Heikkilä, E Hyppönen, A Isaacs, AU Jackson, A Johansson, T Johnson, M Kaakinen, J Kettunen, ME Kleber, X Li, J Luan, LP Lyytikäinen, PK Magnusson, M Mangino, E Mihailov, ME Montasser, M Müller-Nurasyid, IM Nolte, JR O'Connell, CD Palmer, M Perola, AK Petersen, S Sanna, R Saxena, SK Service, S Shah, D Shungin, C Sidore, C Song, RJ Strawbridge, I Surakka, T Tanaka, TM Teslovich, G Thorleifsson, EG Van den Herik, BF Voight, KA Volcik, LL Waite, A Wong, Y Wu, W Zhang, D Absher, G Asiki, I Barroso, LF Been, JL Bolton, LL Bonnycastle, P Brambilla, MS Burnett, G Cesana, M Dimitriou, AS Doney, A Döring, P Elliott, SE Epstein, GI Eyjolfsson, B Gigante, MO Goodarzi, H Grallert, ML Gravito, CJ Groves, G Hallmans, AL Hartikainen, C Hayward, D Hernandez, AA Hicks, H Holm, YJ Hung, T Illig, MR Jones, P Kaleebu, JJ Kastelein, KT Khaw, E Kim, N Klopp, P Komulainen, M Kumari, C Langenberg, T Lehtimäki, SY Lin, J Lindström, RJ Loos, F Mach, WL McArdle, C Meisinger, BD Mitchell, G Müller, R Nagaraja, N Narisu, TV Nieminen, RN Nsubuga, I Olafsson, KK Ong, A Palotie, T Papamarkou, C Pomilla, A Pouta, DJ Rader, MP Reilly, PM Ridker, F Rivadeneira, I Rudan, A Ruokonen, N Samani, H Scharnagl, J Seeley, K Silander, A Stančáková, K Stirrups, AJ Swift, L Tiret, AG Uitterlinden, LJ van Pelt, S Vedantam, N Wainwright, C Wijmenga, SH Wild, G Willemsen, T Wilsgaard, JF Wilson, EH Young, JH Zhao, LS Adair, D Arveiler, TL Assimes, S Bandinelli, F Bennett, M Bochud, BO Boehm, DI Boomsma, IB Borecki, SR Bornstein, P Bovet, M Burnier, H Campbell, A Chakravarti, JC Chambers, YD Chen, FS Collins, RS Cooper, J Danesh, G Dedoussis, U de Faire, AB Feranil, J Ferrières, L Ferrucci, NB Freimer, C Gieger, LC Groop, V Gudnason, U Gyllensten, A Hamsten, TB Harris, A Hingorani, JN Hirschhorn, A Hofman, GK Hovingh, CA Hsiung, SE Humphries, SC Hunt, K Hveem, C Iribarren, MR Järvelin, A Jula, M Kähönen, J Kaprio, A Kesäniemi, M Kivimaki, JS Kooner, PJ Koudstaal, RM Krauss, D Kuh, J Kuusisto, KO Kyvik, M Laakso, TA Lakka, L Lind, CM Lindgren, NG Martin, W März, MI McCarthy, CA McKenzie, P Meneton, A Metspalu, L Moilanen, AD Morris, PB Munroe, I Njølstad, NL Pedersen, C Power, PP Pramstaller, JF Price, BM Psaty, T Quertermous, R Rauramaa, D Saleheen, V Salomaa, DK Sanghera, J Saramies, PE Schwarz, WH Sheu, AR Shuldiner, A Siegbahn, TD Spector, K Stefansson, DP Strachan, BO Tayo, E Tremoli, J Tuomilehto, M Uusitupa, CM van Duijn, P Vollenweider, L Wallentin, NJ Wareham, JB Whitfield, BH Wolffenbuttel, D Altshuler, JM Ordovas, E Boerwinkle, CN Palmer, U Thorsteinsdottir, DI Chasman, JI Rotter, PW Franks, S Ripatti, LA Cupples, MS Sandhu, SS Rich, M Boehnke, P Deloukas, KL Mohlke, E Ingelsson, GR Abecasis, MJ Daly, BM Neale, S Kathiresan
Publication Date: 2013-11

Variant appearance in text: rs688
PubMed Link: 24097064
Variant Present in the following documents:
  • NIHMS524704-supplement-1.pdf
View BVdb publication page



Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.

Clinical Genetics
MS Ellingson, MJ Wick, WM White, KM Raymond, AK Saenger, PN Pichurin, CA Wassif, FD Porter, D Babovic-Vuksanovic
Publication Date: 2014-05

Variant appearance in text: LDLR: 1773C>T
PubMed Link: 23790112
Variant Present in the following documents:
  • Main text
View BVdb publication page



An integrated genetic linkage map for white clover (Trifolium repens L.) with alignment to Medicago.

Bmc Genomics
AG Griffiths, BA Barrett, D Simon, AK Khan, P Bickerstaff, CB Anderson, BK Franzmayr, KR Hancock, CS Jones
Publication Date: 2013-06-10

Variant appearance in text: rs688
PubMed Link: 23758831
Variant Present in the following documents:
  • 1471-2164-14-388-S1.xlsx
  • 1471-2164-14-388-S3.pdf
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: LDLR: N591N; rs688
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: rs688
PubMed Link: 23535506
Variant Present in the following documents:
  • mmc1.docx
View BVdb publication page



Improvement in prediction of coronary heart disease risk over conventional risk factors using SNPs identified in genome-wide association studies.

Plos One
JL Bolton, MC Stewart, JF Wilson, N Anderson, JF Price
Publication Date: 2013

Variant appearance in text: rs688
PubMed Link: 23468967
Variant Present in the following documents:
  • pone.0057310.s005.pdf
View BVdb publication page



A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.

Human Molecular Genetics
F Gao, HE Ihn, MW Medina, RM Krauss
Publication Date: 2013-04-01

Variant appearance in text: rs688
PubMed Link: 23297366
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics in cardiovascular disorders: Steps in approaching personalized medicine in cardiovascular medicine.

Pharmacogenomics And Personalized Medicine
C Barone, SS Mousa, SA Mousa
Publication Date: 2009

Variant appearance in text: rs688
PubMed Link: 23226035
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: rs688
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc4.xls
View BVdb publication page



Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals.

Plos One
F Takeuchi, M Isono, T Katsuya, M Yokota, K Yamamoto, T Nabika, K Shimokawa, E Nakashima, T Sugiyama, H Rakugi, S Yamaguchi, T Ogihara, Y Yamori, N Kato
Publication Date: 2012

Variant appearance in text: rs688
PubMed Link: 23050023
Variant Present in the following documents:
  • pone.0046385.s004.xls
  • pone.0046385.s002.xls
  • pone.0046385.s005.xls
  • pone.0046385.s003.xls
View BVdb publication page



Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.

Plos One
X Liu, C Yue, Z Xu, H Shu, M Pu, H Yu, Y Shi, L Zhuang, X Xu, Z Zhang
Publication Date: 2012

Variant appearance in text: rs688
PubMed Link: 22911757
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs688
PubMed Link: 22629316
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation of pre-mRNA alternative splicing in human populations.

Wiley Interdisciplinary Reviews. Rna
ZX Lu, P Jiang, Y Xing
Publication Date: 2012

Variant appearance in text: rs688
PubMed Link: 22095823
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel gene-environment interaction involved in endometriosis.

International Journal Of Gynaecology And Obstetrics: The Official Organ Of The International Federation Of Gynaecology And Obstetrics
CA McCarty, RL Berg, JD Welter, TE Kitchner, JW Kemnitz
Publication Date: 2012-01

Variant appearance in text: rs688
PubMed Link: 22024213
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

Plos Genetics
FE Dewey, R Chen, SP Cordero, KE Ormond, C Caleshu, KJ Karczewski, M Whirl-Carrillo, MT Wheeler, JT Dudley, JK Byrnes, OE Cornejo, JW Knowles, M Woon, K Sangkuhl, L Gong, CF Thorn, JM Hebert, E Capriotti, SP David, A Pavlovic, A West, JV Thakuria, MP Ball, AW Zaranek, HL Rehm, GM Church, JS West, CD Bustamante, M Snyder, RB Altman, TE Klein, AJ Butte, EA Ashley
Publication Date: 2011-09

Variant appearance in text: rs688
PubMed Link: 21935354
Variant Present in the following documents:
  • pgen.1002280.s013.doc
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
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: LDLR: 1773C>T; N591N; rs688
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs688
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.

Bmc Medical Genetics
G Antoni, T Oudot-Mellakh, A Dimitromanolakis, M Germain, W Cohen, P Wells, M Lathrop, F Gagnon, PE Morange, DA Tregouet
Publication Date: 2011-08-02

Variant appearance in text: rs688
PubMed Link: 21810271
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.

European Heart Journal
A Angelakopoulou, T Shah, R Sofat, S Shah, DJ Berry, J Cooper, J Palmen, I Tzoulaki, A Wong, BJ Jefferis, N Maniatis, F Drenos, B Gigante, R Hardy, RC Laxton, K Leander, A Motterle, IA Simpson, L Smeeth, A Thomson, C Verzilli, D Kuh, H Ireland, J Deanfield, M Caulfield, C Wallace, N Samani, PB Munroe, M Lathrop, FG Fowkes, M Marmot, PH Whincup, JC Whittaker, U de Faire, M Kivimaki, M Kumari, E Hypponen, C Power, SE Humphries, PJ Talmud, J Price, RW Morris, S Ye, JP Casas, AD Hingorani
Publication Date: 2012-02

Variant appearance in text: rs688
PubMed Link: 21804106
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil.

Genetics And Molecular Biology
MA Nakazone, MA De Marchi, MA Pinhel, CF Barros, MA Júlio, A Pinheiro, SS Arazi, JK Hotta, MH Hirata, RD Hirata, JE Dos Santos, DR Souza
Publication Date: 2009-04

Variant appearance in text: LDLR: Asn591Asn; rs688
PubMed Link: 21637672
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coordinately regulated alternative splicing of genes involved in cholesterol biosynthesis and uptake.

Plos One
MW Medina, F Gao, D Naidoo, LL Rudel, RE Temel, AL McDaniel, SM Marshall, RM Krauss
Publication Date: 2011-04-29

Variant appearance in text: rs688
PubMed Link: 21559365
Variant Present in the following documents:
  • Main text
View BVdb publication page



Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

European Journal Of Clinical Investigation
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: 2011-09

Variant appearance in text: rs688
PubMed Link: 21434890
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



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: rs688
PubMed Link: 21424820
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics
A Al-Khateeb, MK Zahri, MS Mohamed, TH Sasongko, S Ibrahim, Z Yusof, BA Zilfalil
Publication Date: 2011-03-19

Variant appearance in text: LDLR: 1773C>T; Asn591Asn; rs688
PubMed Link: 21418584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2028C>T p.Asn676= synonymous_variant 12/18 -
ENST00000455727.2 c.1269C>T p.Asn423= synonymous_variant 10/16 -
ENST00000535915.1 c.1650C>T p.Asn550= synonymous_variant 11/17 -
ENST00000545707.1 c.1392C>T p.Asn464= synonymous_variant 11/16 -
ENST00000557933.1 c.1773C>T p.Asn591= synonymous_variant 12/18 -
ENST00000558013.1 c.1773C>T p.Asn591= synonymous_variant 12/18 -
ENST00000558518.1 c.1773C>T p.Asn591= synonymous_variant 12/18 -
ENST00000559340.1 c.426+714C>T - intron_variant,NMD_transcript_variant - 3/4
NM_000527.5 c.1773C>T p.Asn591= synonymous_variant 12/18 -
NM_001195798.2 c.1773C>T p.Asn591= synonymous_variant 12/18 -
NM_001195799.2 c.1650C>T p.Asn550= synonymous_variant 11/17 -
NM_001195800.2 c.1269C>T p.Asn423= synonymous_variant 10/16 -
NM_001195803.2 c.1392C>T p.Asn464= synonymous_variant 11/16 -