Variant ID: 1-109818306-G-T

NM_001408.2(CELSR2):c.*1635G>T

This variant was identified in 164 publications




Publications:


Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection.

Biomedicines
JM Martín-Campos, S Ruiz-Nogales, D Ibarretxe, E Ortega, E Sánchez-Pujol, M Royuela-Juncadella, À Vila, C Guerrero, A Zamora, C Soler I Ferrer, JA Arroyo, G Carreras, S Martínez-Figueroa, R Roig, N Plana, F Blanco-Vaca, Xarxa d'Unitats de Lípids I Arteriosclerosi Xula
Publication Date: 2020-09-15

Variant appearance in text: rs629301
PubMed Link: 32942679
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population.

Human Genetics
P Hebbar, JA Abubaker, M Abu-Farha, O Alsmadi, N Elkum, F Alkayal, SE John, A Channanath, R Iqbal, J Pitkaniemi, J Tuomilehto, R Sladek, F Al-Mulla, TA Thanaraj
Publication Date: 2020-09-09

Variant appearance in text: rs629301
PubMed Link: 32902719
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.

Clinical Genetics
L Rieck, F Bardey, T Grenkowitz, L Bertram, J Helmuth, C Mischung, J Spranger, E Steinhagen-Thiessen, T Bobbert, U Kassner, I Demuth
Publication Date: 2020-11

Variant appearance in text: rs629301
PubMed Link: 32770674
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Association Study of Coronary Artery Disease-Associated Genome-Wide Significant SNPs with Coronary Stenosis in Pakistani Population.

Disease Markers
AN Cheema, D Pirim, X Wang, J Ali, A Bhatti, P John, E Feingold, FY Demirci, MI Kamboh
Publication Date: 2020

Variant appearance in text: rs629301
PubMed Link: 32685059
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetically programmed changes in transcription of the novel progranulin regulator.

Journal Of Molecular Medicine (Berlin, Germany)
M Keller, C Gebhardt, S Huth, D Schleinitz, H Heyne, M Scholz, M Stumvoll, Y Böttcher, A Tönjes, P Kovacs
Publication Date: 2020-08

Variant appearance in text: rs629301
PubMed Link: 32620998
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Life (Basel, Switzerland)
A Mickiewicz, M Futema, A Ćwiklinska, A Kuchta, M Jankowski, M Kaszubowski, M Chmara, B Wasąg, M Fijałkowski, M Jaguszewski, SE Humphries, M Gruchała
Publication Date: 2020-05-20

Variant appearance in text: rs629301
PubMed Link: 32443900
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.

Molecular Genetics & Genomic Medicine
LG Leal, C Hoggart, MR Jarvelin, KH Herzig, MJE Sternberg, A David
Publication Date: 2020-06

Variant appearance in text: rs629301
PubMed Link: 32307928
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
V Moldovan, C Banescu, M Dobreanu
Publication Date: 2020-02

Variant appearance in text: rs629301
PubMed Link: 32120369
PubMed Central Link
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: rs629301
PubMed Link: 31968102
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



A Mendelian Randomization Study Provides Evidence That Adiposity and Dyslipidemia Lead to Lower Urinary Albumin-to-Creatinine Ratio, a Marker of Microvascular Function.

Diabetes
F Casanova, AR Wood, H Yaghootkar, RN Beaumont, SE Jones, KM Gooding, K Aizawa, WD Strain, AT Hattersley, F Khan, AC Shore, TM Frayling, J Tyrrell
Publication Date: 2020-05

Variant appearance in text: rs629301
PubMed Link: 31915152
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans.

Plos One
SA Pendergrass, S Buyske, JM Jeff, A Frase, S Dudek, Y Bradford, JL Ambite, CL Avery, P Buzkova, E Deelman, MD Fesinmeyer, C Haiman, G Heiss, LA Hindorff, CN Hsu, RD Jackson, Y Lin, L Le Marchand, TC Matise, KR Monroe, L Moreland, KE North, SL Park, A Reiner, R Wallace, LR Wilkens, C Kooperberg, MD Ritchie, DC Crawford
Publication Date: 2019

Variant appearance in text: rs629301
PubMed Link: 31891604
PubMed Central Link
Variant Present in the following documents:
  • pone.0226771.s003.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: rs629301
PubMed Link: 31719535
PubMed Central Link
Variant Present in the following documents:
  • 41467_2019_12958_MOESM7_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: rs629301
PubMed Link: 31714636
PubMed Central Link
Variant Present in the following documents:
  • ANA-87-30-s001.docx
View BVdb publication page



Bayesian multivariate reanalysis of large genetic studies identifies many new associations.

Plos Genetics
MC Turchin, M Stephens
Publication Date: 2019-10

Variant appearance in text: rs629301
PubMed Link: 31596850
PubMed Central Link
Variant Present in the following documents:
  • pgen.1008431.s007.xls
  • pgen.1008431.s006.xls
View BVdb publication page



Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Nature Communications
R Tabassum, JT Rämö, P Ripatti, JT Koskela, M Kurki, J Karjalainen, P Palta, S Hassan, J Nunez-Fontarnau, TTJ Kiiskinen, S Söderlund, N Matikainen, MJ Gerl, MA Surma, C Klose, NO Stitziel, H Laivuori, AS Havulinna, SK Service, V Salomaa, M Pirinen, , M Jauhiainen, MJ Daly, NB Freimer, A Palotie, MR Taskinen, K Simons, S Ripatti
Publication Date: 2019-09-24

Variant appearance in text: rs629301
PubMed Link: 31551469
PubMed Central Link
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_ESM.xlsx
  • 41467_2019_11954_MOESM14_ESM.xlsx
View BVdb publication page



Mendelian randomization analysis rules out disylipidaemia as colorectal cancer cause.

Scientific Reports
G Ibáñez-Sanz, A Díez-Villanueva, M Riera-Ponsati, T Fernández-Villa, P Fernández Navarro, M Bustamante, J Llorca, P Amiano, N Ascunce, G Fernández-Tardón, I Salcedo Bellido, D Salas, R Capelo Álvarez, M Crous-Bou, L Ortega-Valín, B Pérez-Gómez, G Castaño-Vinyals, C Palazuelos, JM Altzibar, E Ardanaz, A Tardón, JJ Jiménez Moleón, V Olmos Juste, N Aragonés, M Pollán, M Kogevinas, V Moreno
Publication Date: 2019-09-16

Variant appearance in text: rs629301
PubMed Link: 31527690
PubMed Central Link
Variant Present in the following documents:
  • 41598_2019_49880_MOESM1_ESM.doc
View BVdb publication page



Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits.

Nature Communications
E Porcu, S Rüeger, K Lepik, , , FA Santoni, A Reymond, Z Kutalik
Publication Date: 2019-07-24

Variant appearance in text: rs629301
PubMed Link: 31341166
PubMed Central Link
Variant Present in the following documents:
  • 41467_2019_10936_MOESM1_ESM.pdf
View BVdb publication page



A genome-wide scan statistic framework for whole-genome sequence data analysis.

Nature Communications
Z He, B Xu, J Buxbaum, I Ionita-Laza
Publication Date: 2019-07-09

Variant appearance in text: rs629301
PubMed Link: 31289270
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



A catalog of genetic loci associated with kidney function from analyses of a million individuals.

Nature Genetics
M Wuttke, Y Li, M Li, KB Sieber, MF Feitosa, M Gorski, A Tin, L Wang, AY Chu, A Hoppmann, H Kirsten, A Giri, JF Chai, G Sveinbjornsson, BO Tayo, T Nutile, C Fuchsberger, J Marten, M Cocca, S Ghasemi, Y Xu, K Horn, D Noce, PJ van der Most, S Sedaghat, Z Yu, M Akiyama, S Afaq, TS Ahluwalia, P Almgren, N Amin, J Ärnlöv, SJL Bakker, N Bansal, D Baptista, S Bergmann, ML Biggs, G Biino, M Boehnke, E Boerwinkle, M Boissel, EP Bottinger, TS Boutin, H Brenner, M Brumat, R Burkhardt, AS Butterworth, E Campana, A Campbell, H Campbell, M Canouil, RJ Carroll, E Catamo, JC Chambers, ML Chee, ML Chee, X Chen, CY Cheng, Y Cheng, K Christensen, R Cifkova, M Ciullo, MP Concas, JP Cook, J Coresh, T Corre, CF Sala, D Cusi, J Danesh, EW Daw, MH de Borst, A De Grandi, R de Mutsert, APJ de Vries, F Degenhardt, G Delgado, A Demirkan, E Di Angelantonio, K Dittrich, J Divers, R Dorajoo, KU Eckardt, G Ehret, P Elliott, K Endlich, MK Evans, JF Felix, VHX Foo, OH Franco, A Franke, BI Freedman, S Freitag-Wolf, Y Friedlander, P Froguel, RT Gansevoort, H Gao, P Gasparini, JM Gaziano, V Giedraitis, C Gieger, G Girotto, F Giulianini, M Gögele, SD Gordon, DF Gudbjartsson, V Gudnason, T Haller, P Hamet, TB Harris, CA Hartman, C Hayward, JN Hellwege, CK Heng, AA Hicks, E Hofer, W Huang, N Hutri-Kähönen, SJ Hwang, MA Ikram, OS Indridason, E Ingelsson, M Ising, VWV Jaddoe, J Jakobsdottir, JB Jonas, PK Joshi, NS Josyula, B Jung, M Kähönen, Y Kamatani, CM Kammerer, M Kanai, M Kastarinen, SM Kerr, CC Khor, W Kiess, ME Kleber, W Koenig, JS Kooner, A Körner, P Kovacs, AT Kraja, A Krajcoviechova, H Kramer, BK Krämer, F Kronenberg, M Kubo, B Kühnel, M Kuokkanen, J Kuusisto, M La Bianca, M Laakso, LA Lange, CD Langefeld, JJ Lee, B Lehne, T Lehtimäki, W Lieb, , SC Lim, L Lind, CM Lindgren, J Liu, J Liu, M Loeffler, RJF Loos, S Lucae, MA Lukas, LP Lyytikäinen, R Mägi, PKE Magnusson, A Mahajan, NG Martin, J Martins, W März, D Mascalzoni, K Matsuda, C Meisinger, T Meitinger, O Melander, A Metspalu, EK Mikaelsdottir, Y Milaneschi, K Miliku, PP Mishra, , KL Mohlke, N Mononen, GW Montgomery, DO Mook-Kanamori, JC Mychaleckyj, GN Nadkarni, MA Nalls, M Nauck, K Nikus, B Ning, IM Nolte, R Noordam, J O'Connell, ML O'Donoghue, I Olafsson, AJ Oldehinkel, M Orho-Melander, WH Ouwehand, S Padmanabhan, ND Palmer, R Palsson, BWJH Penninx, T Perls, M Perola, M Pirastu, N Pirastu, G Pistis, AI Podgornaia, O Polasek, B Ponte, DJ Porteous, T Poulain, PP Pramstaller, MH Preuss, BP Prins, MA Province, TJ Rabelink, LM Raffield, OT Raitakari, DF Reilly, R Rettig, M Rheinberger, KM Rice, PM Ridker, F Rivadeneira, F Rizzi, DJ Roberts, A Robino, P Rossing, I Rudan, R Rueedi, D Ruggiero, KA Ryan, Y Saba, C Sabanayagam, V Salomaa, E Salvi, KU Saum, H Schmidt, R Schmidt, B Schöttker, CA Schulz, N Schupf, CM Shaffer, Y Shi, AV Smith, BH Smith, N Soranzo, CN Spracklen, K Strauch, HM Stringham, M Stumvoll, PO Svensson, S Szymczak, ES Tai, SM Tajuddin, NYQ Tan, KD Taylor, A Teren, YC Tham, J Thiery, CHL Thio, H Thomsen, G Thorleifsson, D Toniolo, A Tönjes, J Tremblay, I Tzoulaki, AG Uitterlinden, S Vaccargiu, RM van Dam, P van der Harst, CM van Duijn, DR Velez Edward, N Verweij, S Vogelezang, U Völker, P Vollenweider, G Waeber, M Waldenberger, L Wallentin, YX Wang, C Wang, DM Waterworth, W Bin Wei, H White, JB Whitfield, SH Wild, JF Wilson, MK Wojczynski, C Wong, TY Wong, L Xu, Q Yang, M Yasuda, LM Yerges-Armstrong, W Zhang, AB Zonderman, JI Rotter, M Bochud, BM Psaty, V Vitart, JG Wilson, A Dehghan, A Parsa, DI Chasman, K Ho, AP Morris, O Devuyst, S Akilesh, SA Pendergrass, X Sim, CA Böger, Y Okada, TL Edwards, H Snieder, K Stefansson, AM Hung, IM Heid, M Scholz, A Teumer, A Köttgen, C Pattaro
Publication Date: 2019-06

Variant appearance in text: rs629301
PubMed Link: 31152163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS1038587-supplement-Tables.xlsx
View BVdb publication page



Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)
Y Wang, JG Wang
Publication Date: 2019-04

Variant appearance in text: rs629301
PubMed Link: 31049317
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.

Current Cardiology Reports
M Sharifi, M Futema, D Nair, SE Humphries
Publication Date: 2019-04-22

Variant appearance in text: rs629301
PubMed Link: 31011892
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



A PheWAS study of a large observational epidemiological cohort of African Americans from the REGARDS study.

Bmc Medical Genomics
X Zhao, X Geng, V Srinivasasainagendra, N Chaudhary, S Judd, V Wadley, OM Gutiérrez, H Wang, EM Lange, LA Lange, D Woo, FW Unverzagt, M Safford, M Cushman, N Limdi, R Quarells, DK Arnett, MR Irvin, D Zhi
Publication Date: 2019-01-31

Variant appearance in text: rs629301
PubMed Link: 30704471
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bayesian multiple logistic regression for case-control GWAS.

Plos Genetics
S Banerjee, L Zeng, H Schunkert, J Söding
Publication Date: 2018-12

Variant appearance in text: rs629301
PubMed Link: 30596640
PubMed Central Link
Variant Present in the following documents:
  • pgen.1007856.s011.pdf
View BVdb publication page



Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Nature Communications
E Ferkingstad, A Oddsson, S Gretarsdottir, S Benonisdottir, G Thorleifsson, AM Deaton, S Jonsson, OA Stefansson, GL Norddahl, F Zink, GA Arnadottir, B Gunnarsson, GH Halldorsson, A Helgadottir, BO Jensson, RP Kristjansson, G Sveinbjornsson, DA Sverrisson, G Masson, I Olafsson, GI Eyjolfsson, O Sigurdardottir, H Holm, I Jonsdottir, S Olafsson, T Steingrimsdottir, T Rafnar, ES Bjornsson, U Thorsteinsdottir, DF Gudbjartsson, P Sulem, K Stefansson
Publication Date: 2018-11-30

Variant appearance in text: rs629301
PubMed Link: 30504769
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_7460_MOESM12_ESM.xlsx
View BVdb publication page



Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.

Biomedical Reports
Y Yamada, Y Yasukochi, K Kato, M Oguri, H Horibe, T Fujimaki, I Takeuchi, J Sakuma
Publication Date: 2018-11

Variant appearance in text: rs629301
PubMed Link: 30402224
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variants Associated With Plasma Lipids Are Associated With the Lipid Response to Niacin.

Journal Of The American Heart Association
S Tuteja, L Qu, M Vujkovic, RL Dunbar, J Chen, S DerOhannessian, DJ Rader
Publication Date: 2018-10-02

Variant appearance in text: rs629301
PubMed Link: 30371334
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes.

Jama Cardiology
LA Lotta, ID Stewart, SJ Sharp, FR Day, S Burgess, J Luan, N Bowker, L Cai, C Li, LBL Wittemans, ND Kerrison, KT Khaw, MI McCarthy, S O'Rahilly, RA Scott, DB Savage, JRB Perry, C Langenberg, NJ Wareham
Publication Date: 2018-10-01

Variant appearance in text: rs629301
PubMed Link: 30326043
PubMed Central Link
Variant Present in the following documents:
  • jamacardiol-3-957-s001.pdf
View BVdb publication page



Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia.

Atherosclerosis
M Futema, M Bourbon, M Williams, SE Humphries
Publication Date: 2018-10

Variant appearance in text: rs629301
PubMed Link: 30270085
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.

Nature Communications
C Yao, G Chen, C Song, J Keefe, M Mendelson, T Huan, BB Sun, A Laser, JC Maranville, H Wu, JE Ho, P Courchesne, A Lyass, MG Larson, C Gieger, J Graumann, AD Johnson, J Danesh, H Runz, SJ Hwang, C Liu, AS Butterworth, K Suhre, D Levy
Publication Date: 2018-08-15

Variant appearance in text: rs629301
PubMed Link: 30111768
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_5512_MOESM2_ESM.pdf
  • 41467_2018_5512_MOESM15_ESM.xlsx
View BVdb publication page



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: rs629301
PubMed Link: 29986042
PubMed Central Link
Variant Present in the following documents:
  • pyy060_suppl_supplementary_tables.xlsx
View BVdb publication page



Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Nature Communications
SM Zekavat, S Ruotsalainen, RE Handsaker, M Alver, J Bloom, T Poterba, C Seed, J Ernst, M Chaffin, J Engreitz, GM Peloso, A Manichaikul, C Yang, KA Ryan, M Fu, WC Johnson, M Tsai, M Budoff, RS Vasan, LA Cupples, JI Rotter, SS Rich, W Post, BD Mitchell, A Correa, A Metspalu, JG Wilson, V Salomaa, M Kellis, MJ Daly, BM Neale, S McCarroll, I Surakka, T Esko, A Ganna, S Ripatti, S Kathiresan, P Natarajan,
Publication Date: 2018-07-04

Variant appearance in text: rs629301
PubMed Link: 29973585
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_4668_MOESM9_ESM.xlsx
  • 41467_2018_4668_MOESM18_ESM.xlsx
  • 41467_2018_4668_MOESM13_ESM.xlsx
  • 41467_2018_4668_MOESM10_ESM.xlsx
  • 41467_2018_4668_MOESM15_ESM.xlsx
  • 41467_2018_4668_MOESM14_ESM.xlsx
  • 41467_2018_4668_MOESM11_ESM.xlsx
  • 41467_2018_4668_MOESM12_ESM.xlsx
  • 41467_2018_4668_MOESM16_ESM.xlsx
View BVdb publication page



Genetic variants in mRNA untranslated regions.

Wiley Interdisciplinary Reviews. Rna
M Steri, ML Idda, MB Whalen, V Orrù
Publication Date: 2018-07

Variant appearance in text: rs629301
PubMed Link: 29582564
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Nature Genetics
R Malik, G Chauhan, M Traylor, M Sargurupremraj, Y Okada, A Mishra, L Rutten-Jacobs, AK Giese, SW van der Laan, S Gretarsdottir, CD Anderson, M Chong, HHH Adams, T Ago, P Almgren, P Amouyel, H Ay, TM Bartz, OR Benavente, S Bevan, GB Boncoraglio, RD Brown, AS Butterworth, C Carrera, CL Carty, DI Chasman, WM Chen, JW Cole, A Correa, I Cotlarciuc, C Cruchaga, J Danesh, PIW de Bakker, AL DeStefano, M den Hoed, Q Duan, ST Engelter, GJ Falcone, RF Gottesman, RP Grewal, V Gudnason, S Gustafsson, J Haessler, TB Harris, A Hassan, AS Havulinna, SR Heckbert, EG Holliday, G Howard, FC Hsu, HI Hyacinth, MA Ikram, E Ingelsson, MR Irvin, X Jian, J Jiménez-Conde, JA Johnson, JW Jukema, M Kanai, KL Keene, BM Kissela, DO Kleindorfer, C Kooperberg, M Kubo, LA Lange, CD Langefeld, C Langenberg, LJ Launer, JM Lee, R Lemmens, D Leys, CM Lewis, WY Lin, AG Lindgren, E Lorentzen, PK Magnusson, J Maguire, A Manichaikul, PF McArdle, JF Meschia, BD Mitchell, TH Mosley, MA Nalls, T Ninomiya, MJ O'Donnell, BM Psaty, SL Pulit, K Rannikmäe, AP Reiner, KM Rexrode, K Rice, SS Rich, PM Ridker, NS Rost, PM Rothwell, JI Rotter, T Rundek, RL Sacco, S Sakaue, MM Sale, V Salomaa, BR Sapkota, R Schmidt, CO Schmidt, U Schminke, P Sharma, A Slowik, CLM Sudlow, C Tanislav, T Tatlisumak, KD Taylor, VNS Thijs, G Thorleifsson, U Thorsteinsdottir, S Tiedt, S Trompet, C Tzourio, CM van Duijn, M Walters, NJ Wareham, S Wassertheil-Smoller, JG Wilson, KL Wiggins, Q Yang, S Yusuf, , , , , , JC Bis, T Pastinen, A Ruusalepp, EE Schadt, S Koplev, JLM Björkegren, V Codoni, M Civelek, NL Smith, DA Trégouët, IE Christophersen, C Roselli, SA Lubitz, PT Ellinor, ES Tai, JS Kooner, N Kato, J He, P van der Harst, P Elliott, JC Chambers, F Takeuchi, AD Johnson, , , , , , , , , , , DK Sanghera, O Melander, C Jern, D Strbian, I Fernandez-Cadenas, WT Longstreth, A Rolfs, J Hata, D Woo, J Rosand, G Pare, JC Hopewell, D Saleheen, K Stefansson, BB Worrall, SJ Kittner, S Seshadri, M Fornage, HS Markus, JMM Howson, Y Kamatani, S Debette, M Dichgans
Publication Date: 2018-04

Variant appearance in text: rs629301
PubMed Link: 29531354
PubMed Central Link
Variant Present in the following documents:
  • NIHMS959658-supplement-Supplementary_Table_27.xlsx
View BVdb publication page



Influence of obesity-related risk factors in the aetiology of glioma.

British Journal Of Cancer
L Disney-Hogg, A Sud, PJ Law, AJ Cornish, B Kinnersley, QT Ostrom, K Labreche, JE Eckel-Passow, GN Armstrong, EB Claus, D Il'yasova, J Schildkraut, JS Barnholtz-Sloan, SH Olson, JL Bernstein, RK Lai, AJ Swerdlow, M Simon, P Hoffmann, MM Nöthen, KH Jöckel, S Chanock, P Rajaraman, C Johansen, RB Jenkins, BS Melin, MR Wrensch, M Sanson, ML Bondy, RS Houlston
Publication Date: 2018-04

Variant appearance in text: rs629301
PubMed Link: 29531326
PubMed Central Link
Variant Present in the following documents:
  • 41416_2018_9_MOESM1_ESM.docx
  • 41416_2018_9_MOESM2_ESM.xlsx
View BVdb publication page



Visit-to-visit lipid variability: Clinical significance, effects of lipid-lowering treatment, and (pharmaco) genetics.

Journal Of Clinical Lipidology
RAJ Smit, JW Jukema, I Postmus, I Ford, PE Slagboom, BT Heijmans, S Le Cessie, S Trompet
Publication Date: 2018

Variant appearance in text: rs629301
PubMed Link: 29422286
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Interactions between Genetics and Sugar-Sweetened Beverage Consumption on Health Outcomes: A Review of Gene-Diet Interaction Studies.

Frontiers In Endocrinology
DE Haslam, NM McKeown, MA Herman, AH Lichtenstein, HS Dashti
Publication Date: 2017

Variant appearance in text: rs629301
PubMed Link: 29375475
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bioinformatic Analysis of Coronary Disease Associated SNPs and Genes to Identify Proteins Potentially Involved in the Pathogenesis of Atherosclerosis.

Journal Of Proteomics And Genomics Research
C Mao, TD Howard, D Sullivan, Z Fu, G Yu, SJ Parker, R Will, RS Vander Heide, Y Wang, J Hixson, J Van Eyk, DM Herrington
Publication Date: 2017

Variant appearance in text: rs629301
PubMed Link: 29367937
PubMed Central Link
Variant Present in the following documents:
  • NIHMS868301-supplement-supplemental_table_s1.xlsx
View BVdb publication page



CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.

Plos One
E Einarsdottir, A Grauers, J Wang, H Jiao, SA Escher, A Danielsson, A Simony, M Andersen, SB Christensen, K Åkesson, I Kou, AM Khanshour, A Ohlin, C Wise, S Ikegawa, J Kere, P Gerdhem
Publication Date: 2017

Variant appearance in text: rs629301
PubMed Link: 29240829
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proficiency of data interpretation: identification of signaling SNPs/specific loci for coronary artery disease.

Database : The Journal Of Biological Databases And Curation
AN Cheema, SL Rosenthal, M Ilyas Kamboh
Publication Date: 2017-01-01

Variant appearance in text: rs629301
PubMed Link: 29220472
PubMed Central Link
Variant Present in the following documents:
  • bax078_supp_table_s2.docx
  • Main text
View BVdb publication page



Sortilin and Its Multiple Roles in Cardiovascular and Metabolic Diseases.

Arteriosclerosis, Thrombosis, And Vascular Biology
C Goettsch, M Kjolby, E Aikawa
Publication Date: 2018-01

Variant appearance in text: rs629301
PubMed Link: 29191923
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: rs629301
PubMed Link: 29084231
PubMed Central Link
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
View BVdb publication page



Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
X Lu, GM Peloso, DJ Liu, Y Wu, H Zhang, W Zhou, J Li, CS Tang, R Dorajoo, H Li, J Long, X Guo, M Xu, CN Spracklen, Y Chen, X Liu, Y Zhang, CC Khor, J Liu, L Sun, L Wang, YT Gao, Y Hu, K Yu, Y Wang, CYY Cheung, F Wang, J Huang, Q Fan, Q Cai, S Chen, J Shi, X Yang, W Zhao, WH Sheu, SS Cherny, M He, AB Feranil, LS Adair, P Gordon-Larsen, S Du, R Varma, YI Chen, XO Shu, KSL Lam, TY Wong, SK Ganesh, Z Mo, K Hveem, LG Fritsche, JB Nielsen, HF Tse, Y Huo, CY Cheng, YE Chen, W Zheng, ES Tai, W Gao, X Lin, W Huang, G Abecasis, , S Kathiresan, KL Mohlke, T Wu, PC Sham, D Gu, CJ Willer
Publication Date: 2017-12

Variant appearance in text: rs629301
PubMed Link: 29083407
PubMed Central Link
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk.

American Journal Of Human Genetics
TG Richardson, J Zheng, G Davey Smith, NJ Timpson, TR Gaunt, CL Relton, G Hemani
Publication Date: 2017-10-05

Variant appearance in text: rs629301
PubMed Link: 28985495
PubMed Central Link
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
View BVdb publication page



Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study.

Diabetes
L Sobrin, YH Chong, Q Fan, A Gan, LK Stanwyck, G Kaidonis, JE Craig, J Kim, WL Liao, YC Huang, WJ Lee, YJ Hung, X Guo, Y Hai, E Ipp, S Pollack, H Hancock, A Price, A Penman, P Mitchell, G Liew, AV Smith, V Gudnason, G Tan, BEK Klein, J Kuo, X Li, MW Christiansen, BM Psaty, K Sandow, , RA Jensen, R Klein, MF Cotch, JJ Wang, Y Jia, CJ Chen, YI Chen, JI Rotter, FJ Tsai, CL Hanis, KP Burdon, TY Wong, CY Cheng
Publication Date: 2017-12

Variant appearance in text: rs629301
PubMed Link: 28951389
PubMed Central Link
Variant Present in the following documents:
  • DB170398SupplementaryData.pdf
View BVdb publication page



Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-analysis of Noncoding Variation in Metabochip Data.

American Journal Of Human Genetics
Z He, B Xu, S Lee, I Ionita-Laza
Publication Date: 2017-09-07

Variant appearance in text: rs629301
PubMed Link: 28844485
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
View BVdb publication page



Evaluating the Causal Relation of ApoA-IV with Disease-Related Traits - A Bidirectional Two-sample Mendelian Randomization Study.

Scientific Reports
S Mack, S Coassin, J Vaucher, F Kronenberg, C Lamina,
Publication Date: 2017-08-18

Variant appearance in text: rs629301
PubMed Link: 28821713
PubMed Central Link
Variant Present in the following documents:
  • 41598_2017_7213_MOESM1_ESM.pdf
View BVdb publication page



Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.

Plos One
A Yeo, L Li, L Warren, J Aponte, D Fraser, K King, K Johansson, A Barnes, C MacPhee, R Davies, S Chissoe, E Tarka, ML O'Donoghue, HD White, L Wallentin, D Waterworth
Publication Date: 2017

Variant appearance in text: rs629301
PubMed Link: 28753643
PubMed Central Link
Variant Present in the following documents:
  • pone.0182115.s013.xlsx
View BVdb publication page



GATE: an efficient procedure in study of pleiotropic genetic associations.

Bmc Genomics
W Zhang, L Yang, LL Tang, A Liu, JL Mills, Y Sun, Q Li
Publication Date: 2017-07-21

Variant appearance in text: rs629301
PubMed Link: 28732532
PubMed Central Link
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: rs629301
PubMed Link: 28577571
PubMed Central Link
Variant Present in the following documents:
  • 12944_2017_488_MOESM1_ESM.xlsx
  • Main text
View BVdb publication page



Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.

Atherosclerosis
M Sharifi, E Higginson, S Bos, A Gallivan, D Harvey, KW Li, A Abeysekera, A Haddon, H Ashby, KE Shipman, JA Cooper, M Futema, JE Roeters van Lennep, EJG Sijbrands, M Labib, D Nair, SE Humphries
Publication Date: 2017-08

Variant appearance in text: rs629301
PubMed Link: 28549500
PubMed Central Link
Variant Present in the following documents:
  • mmc1.docx
  • Main text
View BVdb publication page



Replication and fine-mapping of genetic predictors of lipid traits in African-Americans.

Journal Of Human Genetics
Q Feng, WQ Wei, RT Levinson, JD Mosley, CM Stein
Publication Date: 2017-10

Variant appearance in text: rs629301
PubMed Link: 28539666
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common and rare genetic markers of lipid variation in subjects with type 2 diabetes from the ACCORD clinical trial.

Peerj
SW Marvel, DM Rotroff, MJ Wagner, JB Buse, TM Havener, HL McLeod, AA Motsinger-Reif,
Publication Date: 2017

Variant appearance in text: rs629301
PubMed Link: 28480134
PubMed Central Link
Variant Present in the following documents:
  • peerj-05-3187-s002.xlsx
View BVdb publication page



Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies.

Oncotarget
Y Yamada, J Sakuma, I Takeuchi, Y Yasukochi, K Kato, M Oguri, T Fujimaki, H Horibe, M Muramatsu, M Sawabe, Y Fujiwara, Y Taniguchi, S Obuchi, H Kawai, S Shinkai, S Mori, T Arai, M Tanaka
Publication Date: 2017-06-13

Variant appearance in text: rs629301
PubMed Link: 28473662
PubMed Central Link
Variant Present in the following documents:
  • oncotarget-08-38950-s020.docx
  • Main text
  • oncotarget-08-38950-s017.docx
  • oncotarget-08-38950-s014.docx
View BVdb publication page



Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions.

Circulation
D Saleheen, W Zhao, R Young, CP Nelson, W Ho, JF Ferguson, A Rasheed, K Ou, ST Nurnberg, RC Bauer, A Goel, R Do, AFR Stewart, J Hartiala, W Zhang, G Thorleifsson, RJ Strawbridge, J Sinisalo, S Kanoni, S Sedaghat, E Marouli, K Kristiansson, J Hua Zhao, R Scott, D Gauguier, SH Shah, AV Smith, N van Zuydam, AJ Cox, C Willenborg, T Kessler, L Zeng, MA Province, A Ganna, L Lind, NL Pedersen, CC White, A Joensuu, M Edi Kleber, AS Hall, W März, V Salomaa, C O'Donnell, E Ingelsson, MF Feitosa, J Erdmann, DW Bowden, CNA Palmer, V Gudnason, U Faire, P Zalloua, N Wareham, JR Thompson, K Kuulasmaa, G Dedoussis, M Perola, A Dehghan, JC Chambers, J Kooner, H Allayee, P Deloukas, R McPherson, K Stefansson, H Schunkert, S Kathiresan, M Farrall, P Marcel Frossard, DJ Rader, NJ Samani, MP Reilly
Publication Date: 2017-06-13

Variant appearance in text: rs629301
PubMed Link: 28461624
PubMed Central Link
Variant Present in the following documents:
  • NIHMS870560-supplement-Final_Supplementary_Material.pdf
View BVdb publication page



Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study.

Journal Of Cellular And Molecular Medicine
Y Zhu, D Zhang, D Zhou, Z Li, Z Li, L Fang, M Yang, Z Shan, H Li, J Chen, X Zhou, W Ye, S Yu, H Li, L Cai, C Liu, J Zhang, L Wang, Y Lai, L Ruan, Z Sun, S Zhang, H Wang, Y Liu, Y Xu, J Ling, C Xu, Y Zhang, D Lv, Z Yuan, J Zhang, Y Zhang, Y Shi, M Lai
Publication Date: 2017-06

Variant appearance in text: rs629301
PubMed Link: 28371326
PubMed Central Link
Variant Present in the following documents:
  • JCMM-21-1106-s002.xlsx
  • Main text
View BVdb publication page



Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).

Atherosclerosis
M Futema, JA Cooper, M Charakida, C Boustred, N Sattar, J Deanfield, DA Lawlor, NJ Timpson, , SE Humphries, AD Hingorani
Publication Date: 2017-05

Variant appearance in text: rs629301
PubMed Link: 28349888
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer.

International Journal Of Cancer
H Rodriguez-Broadbent, PJ Law, A Sud, K Palin, S Tuupanen, A Gylfe, UA Hänninen, T Cajuso, T Tanskanen, J Kondelin, E Kaasinen, AP Sarin, S Ripatti, JG Eriksson, H Rissanen, P Knekt, E Pukkala, P Jousilahti, V Salomaa, A Palotie, L Renkonen-Sinisalo, A Lepistö, J Böhm, JP Mecklin, NA Al-Tassan, C Palles, L Martin, E Barclay, SM Farrington, MN Timofeeva, BF Meyer, SM Wakil, H Campbell, CG Smith, S Idziaszczyk, TS Maughan, R Kaplan, R Kerr, D Kerr, MN Passarelli, JC Figueiredo, DD Buchanan, AK Win, JL Hopper, MA Jenkins, NM Lindor, PA Newcomb, S Gallinger, D Conti, F Schumacher, G Casey, LA Aaltonen, JP Cheadle, IP Tomlinson, MG Dunlop, RS Houlston
Publication Date: 2017-06-15

Variant appearance in text: rs629301
PubMed Link: 28340513
PubMed Central Link
Variant Present in the following documents:
  • NIHMS79344-supplement-Supplementary_Data.pdf
  • NIHMS79344-supplement-Supplementary_Material.pdf
View BVdb publication page



cepip: context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes.

Genome Biology
MJ Li, M Li, Z Liu, B Yan, Z Pan, D Huang, Q Liang, D Ying, F Xu, H Yao, P Wang, JA Kocher, Z Xia, PC Sham, JS Liu, J Wang
Publication Date: 2017-03-16

Variant appearance in text: rs629301
PubMed Link: 28302177
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 13059_2017_1177_MOESM1_ESM.pdf
View BVdb publication page



Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and colocalization.

Plos Genetics
X Wen, R Pique-Regi, F Luca
Publication Date: 2017-03

Variant appearance in text: rs629301
PubMed Link: 28278150
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs629301
PubMed Link: 28270201
PubMed Central Link
Variant Present in the following documents:
  • 13073_2017_414_MOESM11_ESM.xlsx
View BVdb publication page



Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits.

American Journal Of Human Genetics
M Civelek, Y Wu, C Pan, CK Raulerson, A Ko, A He, C Tilford, NK Saleem, A Stančáková, LJ Scott, C Fuchsberger, HM Stringham, AU Jackson, N Narisu, PS Chines, KS Small, J Kuusisto, BW Parks, P Pajukanta, T Kirchgessner, FS Collins, PS Gargalovic, M Boehnke, M Laakso, KL Mohlke, AJ Lusis
Publication Date: 2017-03-02

Variant appearance in text: rs629301
PubMed Link: 28257690
PubMed Central Link
Variant Present in the following documents:
  • mmc3.xlsx
View BVdb publication page



Connecting genetic risk to disease end points through the human blood plasma proteome.

Nature Communications
K Suhre, M Arnold, AM Bhagwat, RJ Cotton, R Engelke, J Raffler, H Sarwath, G Thareja, A Wahl, RK DeLisle, L Gold, M Pezer, G Lauc, MA El-Din Selim, DO Mook-Kanamori, EK Al-Dous, YA Mohamoud, J Malek, K Strauch, H Grallert, A Peters, G Kastenmüller, C Gieger, J Graumann
Publication Date: 2017-02-27

Variant appearance in text: rs629301
PubMed Link: 28240269
PubMed Central Link
Variant Present in the following documents:
  • ncomms14357-s2.xlsx
View BVdb publication page



Comparing GWAS Results of Complex Traits Using Full Genetic Model and Additive Models for Revealing Genetic Architecture.

Scientific Reports
MM Monir, J Zhu
Publication Date: 2017-01-12

Variant appearance in text: rs629301
PubMed Link: 28079101
PubMed Central Link
Variant Present in the following documents:
  • srep38600-s1.doc
  • Main text
View BVdb publication page



Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.

Circulation Research
GT Jones, G Tromp, H Kuivaniemi, S Gretarsdottir, AF Baas, B Giusti, E Strauss, FN Van't Hof, TR Webb, R Erdman, MD Ritchie, JR Elmore, A Verma, S Pendergrass, IJ Kullo, Z Ye, PL Peissig, O Gottesman, SS Verma, J Malinowski, LJ Rasmussen-Torvik, KM Borthwick, DT Smelser, DR Crosslin, M de Andrade, EJ Ryer, CA McCarty, EP Böttinger, JA Pacheco, DC Crawford, DS Carrell, GS Gerhard, DP Franklin, DJ Carey, VL Phillips, MJ Williams, W Wei, R Blair, AA Hill, TM Vasudevan, DR Lewis, IA Thomson, J Krysa, GB Hill, J Roake, TR Merriman, G Oszkinis, S Galora, C Saracini, R Abbate, R Pulli, C Pratesi, A Saratzis, AR Verissimo, S Bumpstead, SA Badger, RE Clough, G Cockerill, H Hafez, DJ Scott, TS Futers, SP Romaine, K Bridge, KJ Griffin, MA Bailey, A Smith, MM Thompson, FM van Bockxmeer, SE Matthiasson, G Thorleifsson, U Thorsteinsdottir, JD Blankensteijn, JA Teijink, C Wijmenga, J de Graaf, LA Kiemeney, JS Lindholt, A Hughes, DT Bradley, K Stirrups, J Golledge, PE Norman, JT Powell, SE Humphries, SE Hamby, AH Goodall, CP Nelson, N Sakalihasan, A Courtois, RE Ferrell, P Eriksson, L Folkersen, A Franco-Cereceda, JD Eicher, AD Johnson, C Betsholtz, A Ruusalepp, O Franzén, EE Schadt, JL Björkegren, L Lipovich, AM Drolet, EL Verhoeven, CJ Zeebregts, RH Geelkerken, MR van Sambeek, SM van Sterkenburg, JP de Vries, K Stefansson, JR Thompson, PI de Bakker, P Deloukas, RD Sayers, SC Harrison, AM van Rij, NJ Samani, MJ Bown
Publication Date: 2017-01-20

Variant appearance in text: rs629301
PubMed Link: 27899403
PubMed Central Link
Variant Present in the following documents:
  • res-120-341-s002.pdf
View BVdb publication page



Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters.

Cell
BM Javierre, OS Burren, SP Wilder, R Kreuzhuber, SM Hill, S Sewitz, J Cairns, SW Wingett, C Várnai, MJ Thiecke, F Burden, S Farrow, AJ Cutler, K Rehnström, K Downes, L Grassi, M Kostadima, P Freire-Pritchett, F Wang, , HG Stunnenberg, JA Todd, DR Zerbino, O Stegle, WH Ouwehand, M Frontini, C Wallace, M Spivakov, P Fraser
Publication Date: 2016-11-17

Variant appearance in text: rs629301
PubMed Link: 27863249
PubMed Central Link
Variant Present in the following documents:
  • mmc3.xlsx
View BVdb publication page



Comprehensive Analysis of Established Dyslipidemia-Associated Loci in the Diabetes Prevention Program.

Circulation. Cardiovascular Genetics
TV Varga, AH Winters, KA Jablonski, ES Horton, P Khare-Ranade, WC Knowler, SM Marcovina, F Renström, KE Watson, R Goldberg, JC Florez, TI Pollin, PW Franks
Publication Date: 2016-12

Variant appearance in text: rs629301
PubMed Link: 27784733
PubMed Central Link
Variant Present in the following documents:
  • NIHMS825913-supplement-001457_-_Supplemental_Material.pdf
  • Main text
  • NIHMS825913-supplement-001457_-_PAP.pdf
View BVdb publication page



Associations of genetic variants for adult lipid levels with lipid levels in children. The Generation R Study.

Journal Of Lipid Research
A Latsuzbaia, VW Jaddoe, A Hofman, OH Franco, JF Felix
Publication Date: 2016-12

Variant appearance in text: rs629301
PubMed Link: 27777320
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs629301
PubMed Link: 27668658
PubMed Central Link
Variant Present in the following documents:
  • NIHMS71079-supplement-Supplementary_Data.pdf
View BVdb publication page



Rooted in risk: genetic predisposition for low-density lipoprotein cholesterol level associates with diminished low-density lipoprotein cholesterol response to statin treatment.

Pharmacogenomics
RA Smit, I Postmus, S Trompet, MR Barnes, H Warren, BJ Arsenault, DI Chasman, LA Cupples, GA Hitman, RM Krauss, X Li, BM Psaty, CM Stein, JI Rotter, JW Jukema
Publication Date: 2016-10

Variant appearance in text: rs629301
PubMed Link: 27648687
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • pgs-17-1621-s1.docx
View BVdb publication page



Genetic susceptibility to dyslipidemia and incidence of cardiovascular disease depending on a diet quality index in the Malmö Diet and Cancer cohort.

Genes & Nutrition
S Hellstrand, U Ericson, CA Schulz, I Drake, B Gullberg, B Hedblad, G Engström, M Orho-Melander, E Sonestedt
Publication Date: 2016

Variant appearance in text: rs629301
PubMed Link: 27551321
PubMed Central Link
Variant Present in the following documents:
  • 12263_2016_536_MOESM1_ESM.docx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000271332.3 c.*1635G>T - 3_prime_UTR_variant 34/34 -
NM_001408.3 c.*1635G>T - 3_prime_UTR_variant 34/34 -