Variant ID: 1-230294916-C-T

NM_004481.3(GALNT2):c.127-19048C>T

This variant was identified in 65 publications




Publications:


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: rs2144300
PubMed Link: 31636271
Variant Present in the following documents:
  • 41467_2019_12703_MOESM11_ESM.xlsx
  • 41467_2019_12703_MOESM3_ESM.xlsx
  • 41467_2019_12703_MOESM4_ESM.xlsx
  • 41467_2019_12703_MOESM6_ESM.xlsx
  • 41467_2019_12703_MOESM7_ESM.xlsx
  • 41467_2019_12703_MOESM8_ESM.xlsx
  • 41467_2019_Article_12703.pdf
  • aaaaaMain text
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: rs2144300
PubMed Link: 31527690
Variant Present in the following documents:
  • 41598_2019_49880_MOESM1_ESM.doc
View BVdb publication page



Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

Plos One
AD Howard, X Wang, M Prasad, AD Sahu, R Aniba, M Miller, S Hannenhalli, YC Chang
Publication Date: 2019

Variant appearance in text: rs2144300
PubMed Link: 31039173
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

Nature Communications
TO Kilpeläinen, AR Bentley, R Noordam, YJ Sung, K Schwander, TW Winkler, H Jakupović, DI Chasman, A Manning, I Ntalla, H Aschard, MR Brown, L de Las Fuentes, N Franceschini, X Guo, D Vojinovic, S Aslibekyan, MF Feitosa, M Kho, SK Musani, M Richard, H Wang, Z Wang, TM Bartz, LF Bielak, A Campbell, R Dorajoo, V Fisher, FP Hartwig, ARVR Horimoto, C Li, KK Lohman, J Marten, X Sim, AV Smith, SM Tajuddin, M Alver, M Amini, M Boissel, JF Chai, X Chen, J Divers, E Evangelou, C Gao, M Graff, SE Harris, M He, FC Hsu, AU Jackson, JH Zhao, AT Kraja, B Kühnel, F Laguzzi, LP Lyytikäinen, IM Nolte, R Rauramaa, M Riaz, A Robino, R Rueedi, HM Stringham, F Takeuchi, PJ van der Most, TV Varga, N Verweij, EB Ware, W Wen, X Li, LR Yanek, N Amin, DK Arnett, E Boerwinkle, M Brumat, B Cade, M Canouil, YI Chen, MP Concas, J Connell, R de Mutsert, HJ de Silva, PS de Vries, A Demirkan, J Ding, CB Eaton, JD Faul, Y Friedlander, KP Gabriel, M Ghanbari, F Giulianini, CC Gu, D Gu, TB Harris, J He, S Heikkinen, CK Heng, SC Hunt, MA Ikram, JB Jonas, WP Koh, P Komulainen, JE Krieger, SB Kritchevsky, Z Kutalik, J Kuusisto, CD Langefeld, C Langenberg, LJ Launer, K Leander, RN Lemaitre, CE Lewis, J Liang, , J Liu, R Mägi, A Manichaikul, T Meitinger, A Metspalu, Y Milaneschi, KL Mohlke, TH Mosley, AD Murray, MA Nalls, EK Nang, CP Nelson, S Nona, JM Norris, CV Nwuba, J O'Connell, ND Palmer, GJ Papanicolau, R Pazoki, NL Pedersen, A Peters, PA Peyser, O Polasek, DJ Porteous, A Poveda, OT Raitakari, SS Rich, N Risch, JG Robinson, LM Rose, I Rudan, PJ Schreiner, RA Scott, SS Sidney, M Sims, JA Smith, H Snieder, T Sofer, JM Starr, B Sternfeld, K Strauch, H Tang, KD Taylor, MY Tsai, J Tuomilehto, AG Uitterlinden, MY van der Ende, D van Heemst, T Voortman, M Waldenberger, P Wennberg, G Wilson, YB Xiang, J Yao, C Yu, JM Yuan, W Zhao, AB Zonderman, DM Becker, M Boehnke, DW Bowden, U de Faire, IJ Deary, P Elliott, T Esko, BI Freedman, P Froguel, P Gasparini, C Gieger, N Kato, M Laakso, TA Lakka, T Lehtimäki, PKE Magnusson, AJ Oldehinkel, BWJH Penninx, NJ Samani, XO Shu, P van der Harst, JV Van Vliet-Ostaptchouk, P Vollenweider, LE Wagenknecht, YX Wang, NJ Wareham, DR Weir, T Wu, W Zheng, X Zhu, MK Evans, PW Franks, V Gudnason, C Hayward, BL Horta, TN Kelly, Y Liu, KE North, AC Pereira, PM Ridker, ES Tai, RM van Dam, ER Fox, SLR Kardia, CT Liu, DO Mook-Kanamori, MA Province, S Redline, CM van Duijn, JI Rotter, CB Kooperberg, WJ Gauderman, BM Psaty, K Rice, PB Munroe, M Fornage, LA Cupples, CN Rotimi, AC Morrison, DC Rao, RJF Loos
Publication Date: 2019-01-22

Variant appearance in text: rs2144300
PubMed Link: 30670697
Variant Present in the following documents:
  • 41467_2018_8008_MOESM10_ESM.xlsx
  • 41467_2018_8008_MOESM7_ESM.xlsx
View BVdb publication page



Genetic polymorphisms of melatonin receptors 1A and 1B may result in disordered lipid metabolism in obese patients with polycystic ovary syndrome.

Molecular Medicine Reports
XH Xu, LC Kou, HM Wang, CM Bo, XC Song
Publication Date: 2019-03

Variant appearance in text: rs2144300
PubMed Link: 30664204
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: rs2144300
PubMed Link: 29084231
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: rs2144300
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-1.docx
View BVdb publication page



Genetic variants influencing elevated myeloperoxidase levels increase risk of stroke.

Brain : A Journal Of Neurology
CL Phuah, T Dave, R Malik, MR Raffeld, AM Ayres, JN Goldstein, A Viswanathan, SM Greenberg, JM Jagiella, BM Hansen, B Norrving, J Jimenez-Conde, J Roquer, A Pichler, C Enzinger, J Montaner, I Fernandez-Cadenas, A Lindgren, A Slowik, R Schmidt, A Biffi, N Rost, CD Langefeld, HS Markus, BD Mitchell, BB Worrall, SJ Kittner, D Woo, M Dichgans, J Rosand, CD Anderson, , ,
Publication Date: 2017-10-01

Variant appearance in text: rs2144300
PubMed Link: 28969386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

Plos One
LC Pilling, JL Atkins, MO Duff, RN Beaumont, SE Jones, J Tyrrell, CL Kuo, KS Ruth, MA Tuke, H Yaghootkar, AR Wood, A Murray, MN Weedon, LW Harries, GA Kuchel, L Ferrucci, TM Frayling, D Melzer
Publication Date: 2017

Variant appearance in text: rs2144300
PubMed Link: 28957414
Variant Present in the following documents:
  • pone.0185083.s004.xlsx
View BVdb publication page



Data to genetic risk assessment on high-density cholesterol level associated polymorphisms in Hungarian general and Roma populations.

Data In Brief
P Pikó, S Fiatal, Z Kósa, J Sándor, R Ádány
Publication Date: 2017-10

Variant appearance in text: rs2144300
PubMed Link: 28795114
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: rs2144300
PubMed Link: 28577571
Variant Present in the following documents:
  • 12944_2017_488_MOESM1_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci.

Human Molecular Genetics
N Zubair, M Graff, J Luis Ambite, WS Bush, G Kichaev, Y Lu, A Manichaikul, WH Sheu, D Absher, TL Assimes, SJ Bielinski, EP Bottinger, P Buzkova, LM Chuang, RH Chung, B Cochran, L Dumitrescu, O Gottesman, JW Haessler, C Haiman, G Heiss, CA Hsiung, YJ Hung, CM Hwu, JJ Juang, L Le Marchand, IT Lee, WJ Lee, LA Lin, D Lin, SY Lin, RH Mackey, LW Martin, B Pasaniuc, U Peters, I Predazzi, T Quertermous, AP Reiner, J Robinson, JI Rotter, KK Ryckman, PJ Schreiner, E Stahl, R Tao, MY Tsai, LL Waite, TD Wang, S Buyske, YD Ida Chen, I Cheng, DC Crawford, RJF Loos, SS Rich, M Fornage, KE North, C Kooperberg, CL Carty
Publication Date: 2016-12-15

Variant appearance in text: rs2144300
PubMed Link: 28426890
Variant Present in the following documents:
  • ddw358_supp.docx
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: rs2144300
PubMed Link: 28371326
Variant Present in the following documents:
  • JCMM-21-1106-s002.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: rs2144300
PubMed Link: 28257690
Variant Present in the following documents:
  • mmc3.xlsx
  • mmc4.xlsx
View BVdb publication page



Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels.

Lipids In Health And Disease
M Cavalli, G Pan, H Nord, C Wadelius
Publication Date: 2016-01-27

Variant appearance in text: rs2144300
PubMed Link: 26817450
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2144300
PubMed Link: 26744084
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol.

American Journal Of Human Genetics
TS Roman, AF Marvelle, MP Fogarty, S Vadlamudi, AJ Gonzalez, ML Buchkovich, JR Huyghe, C Fuchsberger, AU Jackson, Y Wu, M Civelek, AJ Lusis, KJ Gaulton, P Sethupathy, AJ Kangas, P Soininen, M Ala-Korpela, J Kuusisto, FS Collins, M Laakso, M Boehnke, KL Mohlke
Publication Date: 2015-12-03

Variant appearance in text: rs2144300
PubMed Link: 26637976
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations.

European Journal Of Human Genetics : Ejhg
X Wang, CY Cheng, J Liao, X Sim, J Liu, KS Chia, ES Tai, P Little, CC Khor, T Aung, TY Wong, YY Teo
Publication Date: 2016-04

Variant appearance in text: rs2144300
PubMed Link: 26130488
Variant Present in the following documents:
  • ejhg2015150x4.xls
View BVdb publication page



Apolipoprotein E and protection against hepatitis E viral infection in American non-Hispanic blacks.

Hepatology (Baltimore, Md.)
L Zhang, A Yesupriya, MH Chang, E Teshale, CG Teo
Publication Date: 2015-11

Variant appearance in text: rs2144300
PubMed Link: 26096528
Variant Present in the following documents:
  • NIHMS1043972-supplement-Supplemental.pdf
View BVdb publication page



The reduction of vascular disease risk mutations contributes to longevity in the Chinese population.

Meta Gene
YH He, X Lu, MX Bi, LQ Yang, LY Xu, QP Kong
Publication Date: 2014-12

Variant appearance in text: rs2144300
PubMed Link: 25606459
Variant Present in the following documents:
  • Main text
  • mmc1.docx
  • mmc2.xlsx
  • mmc3.xlsx
View BVdb publication page



Association between CETP, MLXIPL, and TOMM40 polymorphisms and serum lipid levels in a Latvian population.

Meta Gene
I Radovica, D Fridmanis, I Silamikelis, L Nikitina-Zake, J Klovins
Publication Date: 2014-12

Variant appearance in text: rs2144300
PubMed Link: 25606439
Variant Present in the following documents:
  • mmc1.docx
View BVdb publication page



Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study.

Plos Genetics
MA Hall, A Verma, KD Brown-Gentry, R Goodloe, J Boston, S Wilson, B McClellan, C Sutcliffe, HH Dilks, NB Gillani, H Jin, P Mayo, M Allen, N Schnetz-Boutaud, DC Crawford, MD Ritchie, SA Pendergrass
Publication Date: 2014-12

Variant appearance in text: rs2144300
PubMed Link: 25474351
Variant Present in the following documents:
  • pgen.1004678.s007.xlsx
View BVdb publication page



Evaluation of association between common genetic variants on chromosome 9p21 and coronary artery disease in Turkish population.

Anatolian Journal Of Cardiology
HA Çakmak, B Bayoğlu, E Durmaz, G Can, B Karadağ, M Cengiz, VA Vural, H Yüksel
Publication Date: 2015-03

Variant appearance in text: rs2144300
PubMed Link: 25333979
Variant Present in the following documents:
  • Main text
View BVdb publication page



Strategies to fine-map genetic associations with lipid levels by combining epigenomic annotations and liver-specific transcription profiles.

Genomics
KS Lo, S Vadlamudi, MP Fogarty, KL Mohlke, G Lettre
Publication Date: 2014-08

Variant appearance in text: rs2144300
PubMed Link: 24997396
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiancestral analysis of inflammation-related genetic variants and C-reactive protein in the population architecture using genomics and epidemiology study.

Circulation. Cardiovascular Genetics
JM Kocarnik, SA Pendergrass, CL Carty, JS Pankow, FR Schumacher, I Cheng, P Durda, JL Ambite, E Deelman, NR Cook, S Liu, J Wactawski-Wende, C Hutter, K Brown-Gentry, S Wilson, LG Best, N Pankratz, CP Hong, SA Cole, VS Voruganti, P Bůžkova, NW Jorgensen, NS Jenny, LR Wilkens, CA Haiman, LN Kolonel, A Lacroix, K North, R Jackson, L Le Marchand, LA Hindorff, DC Crawford, M Gross, U Peters
Publication Date: 2014-04

Variant appearance in text: rs2144300
PubMed Link: 24622110
Variant Present in the following documents:
  • NIHMS575195-supplement-000173_-_Supplemental_Material.pdf
View BVdb publication page



Biobanking across the phenome - at the center of chronic disease research.

Bmc Public Health
M Imboden, NM Probst-Hensch
Publication Date: 2013-11-25

Variant appearance in text: rs2144300
PubMed Link: 24274136
Variant Present in the following documents:
  • 1471-2458-13-1094-S2.xlsx
View BVdb publication page



Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III).

Bmc Medical Genetics
R Goodloe, K Brown-Gentry, NB Gillani, H Jin, P Mayo, M Allen, B McClellan, J Boston, C Sutcliffe, N Schnetz-Boutaud, HH Dilks, DC Crawford
Publication Date: 2013-11-21

Variant appearance in text: rs2144300
PubMed Link: 24256507
Variant Present in the following documents:
  • 1471-2350-14-120-S1.doc
View BVdb publication page



ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer.

Bmc Medical Genomics
M Bysani, O Wallerman, S Bornelöv, K Zatloukal, J Komorowski, C Wadelius
Publication Date: 2013-11-08

Variant appearance in text: rs2144300
PubMed Link: 24206787
Variant Present in the following documents:
  • 1755-8794-6-50-S2.docx
View BVdb publication page



Genetic susceptibility for ischemic infarction and arteriolosclerosis based on neuropathologic evaluations.

Cerebrovascular Diseases (Basel, Switzerland)
SY Chou, JM Shulman, BT Keenan, EA Secor, AS Buchman, J Schneider, DA Bennett, PL De Jager
Publication Date: 2013

Variant appearance in text: rs2144300
PubMed Link: 24135527
Variant Present in the following documents:
  • NIHMS527173-supplement-01.pdf
View BVdb publication page



Atenolol induced HDL-C change in the pharmacogenomic evaluation of antihypertensive responses (PEAR) study.

Plos One
CW McDonough, NK Gillis, A Alsultan, SW Chang, M Kawaguchi-Suzuki, JE Lang, MH Shahin, TW Buford, NM El Rouby, AC Sá, TY Langaee, JG Gums, AB Chapman, RM Cooper-DeHoff, ST Turner, Y Gong, JA Johnson
Publication Date: 2013

Variant appearance in text: rs2144300
PubMed Link: 24116192
Variant Present in the following documents:
  • Main text
  • pone.0076984.s003.doc
  • pone.0076984.s004.xlsx
  • pone.0076984.s006.doc
View BVdb publication page



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: rs2144300
PubMed Link: 24100633
Variant Present in the following documents:
  • NIHMS530028-supplement-439_2013_1375_MOESM1_ESM.docx
View BVdb publication page



Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study.

Plos Biology
CS Carlson, TC Matise, KE North, CA Haiman, MD Fesinmeyer, S Buyske, FR Schumacher, U Peters, N Franceschini, MD Ritchie, DJ Duggan, KL Spencer, L Dumitrescu, CB Eaton, F Thomas, A Young, C Carty, G Heiss, L Le Marchand, DC Crawford, LA Hindorff, CL Kooperberg,
Publication Date: 2013-09

Variant appearance in text: rs2144300
PubMed Link: 24068893
Variant Present in the following documents:
  • pbio.1001661.s003.xlsx
  • pbio.1001661.s004.xlsx
View BVdb publication page



A multiethnic replication study of plasma lipoprotein levels-associated SNPs identified in recent GWAS.

Plos One
EK Bryant, AS Dressen, CH Bunker, JE Hokanson, RF Hamman, MI Kamboh, FY Demirci
Publication Date: 2013

Variant appearance in text: rs2144300
PubMed Link: 23717430
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2144300
PubMed Link: 23675527
Variant Present in the following documents:
  • pone.0064191.s002.docx
View BVdb publication page



Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study.

Bmc Genetics
KC Taylor, CL Carty, L Dumitrescu, P Bůžková, SA Cole, L Hindorff, FR Schumacher, LR Wilkens, RV Shohet, PM Quibrera, KC Johnson, BE Henderson, J Haessler, N Franceschini, CB Eaton, DJ Duggan, B Cochran, I Cheng, CS Carlson, K Brown-Gentry, G Anderson, JL Ambite, C Haiman, L Le Marchand, C Kooperberg, DC Crawford, S Buyske, KE North, M Fornage,
Publication Date: 2013-05-01

Variant appearance in text: rs2144300
PubMed Link: 23634756
Variant Present in the following documents:
  • 1471-2156-14-33-S1.pdf
  • aaaaaMain text
View BVdb publication page



Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.

Human Molecular Genetics
AP Reiner, J Hartiala, T Zeller, JC Bis, J Dupuis, M Fornage, J Baumert, ME Kleber, PS Wild, S Baldus, SJ Bielinski, JD Fontes, T Illig, BJ Keating, LA Lange, F Ojeda, M Müller-Nurasyid, TF Munzel, BM Psaty, K Rice, JI Rotter, RB Schnabel, WH Tang, B Thorand, J Erdmann, , DR Jacobs, JG Wilson, W Koenig, RP Tracy, S Blankenberg, W März, MD Gross, EJ Benjamin, SL Hazen, H Allayee
Publication Date: 2013-08-15

Variant appearance in text: rs2144300
PubMed Link: 23620142
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of associations of ten candidate coronary heart disease risk genetic variants and subclinical atherosclerosis in four US populations: the Population Architecture using Genomics and Epidemiology (PAGE) study.

Atherosclerosis
L Zhang, P Buzkova, CL Wassel, MJ Roman, KE North, DC Crawford, J Boston, KD Brown-Gentry, SA Cole, E Deelman, R Goodloe, S Wilson, G Heiss, NS Jenny, NW Jorgensen, TC Matise, BE McClellan, AQ Nato, MD Ritchie, N Franceschini, WH Kao
Publication Date: 2013-06

Variant appearance in text: rs2144300
PubMed Link: 23587283
Variant Present in the following documents:
  • Main text
  • NIHMS470261-supplement-01.docx
View BVdb publication page



Association analysis of dyslipidemia-related genes in diabetic nephropathy.

Plos One
GJ McKay, DA Savage, CC Patterson, G Lewis, AJ McKnight, AP Maxwell,
Publication Date: 2013

Variant appearance in text: rs2144300
PubMed Link: 23555584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of functional polymorphism rs2231142 (Q141K) in the ABCG2 gene with serum uric acid and gout in 4 US populations: the PAGE Study.

American Journal Of Epidemiology
L Zhang, KL Spencer, VS Voruganti, NW Jorgensen, M Fornage, LG Best, KD Brown-Gentry, SA Cole, DC Crawford, E Deelman, N Franceschini, AL Gaffo, KR Glenn, G Heiss, NS Jenny, A Kottgen, Q Li, K Liu, TC Matise, KE North, JG Umans, WH Kao
Publication Date: 2013-05-01

Variant appearance in text: rs2144300
PubMed Link: 23552988
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2144300
PubMed Link: 23382687
Variant Present in the following documents:
  • Main text
  • pgen.1003087.s001.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs2144300
PubMed Link: 23236364
Variant Present in the following documents:
  • pone.0050198.s007.xlsx
View BVdb publication page



Association of cardiovascular and metabolic disease genes with psoriasis.

The Journal Of Investigative Dermatology
Y Lu, H Chen, P Nikamo, H Qi Low, C Helms, M Seielstad, J Liu, AM Bowcock, M Stahle, W Liao
Publication Date: 2013-03

Variant appearance in text: rs2144300
PubMed Link: 23190900
Variant Present in the following documents:
  • NIHMS404713-supplement-01.pdf
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: rs2144300
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc4.xls
  • mmc7.xls
  • mmc9.xls
View BVdb publication page



Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.

Bmc Medical Genetics
S Huhn, M Bevier, A Rudolph, B Pardini, A Naccarati, R Hein, M Hoffmeister, L Vodickova, J Novotny, H Brenner, J Chang-Claude, K Hemminki, P Vodicka, A Försti
Publication Date: 2012-10-05

Variant appearance in text: rs2144300
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
  • aaaaaMain text
View BVdb publication page



Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities.

Lipids In Health And Disease
Q Li, XL Wei, RX Yin
Publication Date: 2012-05-01

Variant appearance in text: rs2144300
PubMed Link: 22548731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.

Neurobiology Of Disease
DG Hernandez, MA Nalls, M Moore, S Chong, A Dillman, D Trabzuni, JR Gibbs, M Ryten, S Arepalli, ME Weale, AB Zonderman, J Troncoso, R O'Brien, R Walker, C Smith, S Bandinelli, BJ Traynor, J Hardy, AB Singleton, MR Cookson
Publication Date: 2012-07

Variant appearance in text: rs2144300
PubMed Link: 22433082
Variant Present in the following documents:
  • mmc1.xls
View BVdb publication page



Associations between incident ischemic stroke events and stroke and cardiovascular disease-related genome-wide association studies single nucleotide polymorphisms in the Population Architecture Using Genomics and Epidemiology study.

Circulation. Cardiovascular Genetics
CL Carty, P Buzková, M Fornage, N Franceschini, S Cole, G Heiss, LA Hindorff, BV Howard, S Mann, LW Martin, Y Zhang, TC Matise, R Prentice, AP Reiner, C Kooperberg
Publication Date: 2012-04-01

Variant appearance in text: rs2144300
PubMed Link: 22403240
Variant Present in the following documents:
  • NIHMS369440-supplement-01.pdf
View BVdb publication page



A genome-wide scan for common variants affecting the rate of age-related cognitive decline.

Neurobiology Of Aging
PL De Jager, JM Shulman, LB Chibnik, BT Keenan, T Raj, RS Wilson, L Yu, SE Leurgans, D Tran, C Aubin, CD Anderson, A Biffi, JJ Corneveaux, MJ Huentelman, , J Rosand, MJ Daly, AJ Myers, EM Reiman, DA Bennett, DA Evans
Publication Date: 2012-05

Variant appearance in text: rs2144300
PubMed Link: 22054870
Variant Present in the following documents:
  • NIHMS328602-supplement-01.doc
View BVdb publication page



Association of the GALNT2 gene polymorphisms and several environmental factors with serum lipid levels in the Mulao and Han populations.

Lipids In Health And Disease
Q Li, RX Yin, TT Yan, L Miao, XL Cao, XJ Hu, LH Aung, DF Wu, JZ Wu, WX Lin
Publication Date: 2011-09-20

Variant appearance in text: rs2144300
PubMed Link: 21933382
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: rs2144300
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of candidate genes associated with cardiovascular risk factors in psychiatric patients.

Progress In Neuro-Psychopharmacology & Biological Psychiatry
A Windemuth, J de Leon, JW Goethe, HI Schwartz, S Woolley, M Susce, M Kocherla, K Bogaard, TR Holford, RL Seip, G Ruaño
Publication Date: 2012-03-30

Variant appearance in text: rs2144300
PubMed Link: 21851846
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2144300
PubMed Link: 21738485
Variant Present in the following documents:
  • Main text
  • pgen.1002138.s015.doc
View BVdb publication page



Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

Plos Genetics
G Lettre, CD Palmer, T Young, KG Ejebe, H Allayee, EJ Benjamin, F Bennett, DW Bowden, A Chakravarti, A Dreisbach, DN Farlow, AR Folsom, M Fornage, T Forrester, E Fox, CA Haiman, J Hartiala, TB Harris, SL Hazen, SR Heckbert, BE Henderson, JN Hirschhorn, BJ Keating, SB Kritchevsky, E Larkin, M Li, ME Rudock, CA McKenzie, JB Meigs, YA Meng, TH Mosley, AB Newman, CH Newton-Cheh, DN Paltoo, GJ Papanicolaou, N Patterson, WS Post, BM Psaty, AN Qasim, L Qu, DJ Rader, S Redline, MP Reilly, AP Reiner, SS Rich, JI Rotter, Y Liu, P Shrader, DS Siscovick, WH Tang, HA Taylor, RP Tracy, RS Vasan, KM Waters, R Wilks, JG Wilson, RR Fabsitz, SB Gabriel, S Kathiresan, E Boerwinkle
Publication Date: 2011-02-10

Variant appearance in text: rs2144300
PubMed Link: 21347282
Variant Present in the following documents:
  • Main text
  • pgen.1001300.s016.doc
  • pgen.1001300.s017.doc
View BVdb publication page



Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.

Circulation. Cardiovascular Genetics
AC Edmondson, PS Braund, IM Stylianou, AV Khera, CP Nelson, ML Wolfe, SL Derohannessian, BJ Keating, L Qu, J He, MD Tobin, M Tomaszewski, J Baumert, N Klopp, A Döring, B Thorand, M Li, MP Reilly, W Koenig, NJ Samani, DJ Rader
Publication Date: 2011-04

Variant appearance in text: rs2144300
PubMed Link: 21303902
Variant Present in the following documents:
  • Main text
  • NIHMS280051-supplement-1.pdf
View BVdb publication page



Biological, clinical and population relevance of 95 loci for blood lipids.

Nature
TM Teslovich, K Musunuru, AV Smith, AC Edmondson, IM Stylianou, M Koseki, JP Pirruccello, S Ripatti, DI Chasman, CJ Willer, CT Johansen, SW Fouchier, A Isaacs, GM Peloso, M Barbalic, SL Ricketts, JC Bis, YS Aulchenko, G Thorleifsson, MF Feitosa, J Chambers, M Orho-Melander, O Melander, T Johnson, X Li, X Guo, M Li, Y Shin Cho, M Jin Go, Y Jin Kim, JY Lee, T Park, K Kim, X Sim, R Twee-Hee Ong, DC Croteau-Chonka, LA Lange, JD Smith, K Song, J Hua Zhao, X Yuan, J Luan, C Lamina, A Ziegler, W Zhang, RY Zee, AF Wright, JC Witteman, JF Wilson, G Willemsen, HE Wichmann, JB Whitfield, DM Waterworth, NJ Wareham, G Waeber, P Vollenweider, BF Voight, V Vitart, AG Uitterlinden, M Uda, J Tuomilehto, JR Thompson, T Tanaka, I Surakka, HM Stringham, TD Spector, N Soranzo, JH Smit, J Sinisalo, K Silander, EJ Sijbrands, A Scuteri, J Scott, D Schlessinger, S Sanna, V Salomaa, J Saharinen, C Sabatti, A Ruokonen, I Rudan, LM Rose, R Roberts, M Rieder, BM Psaty, PP Pramstaller, I Pichler, M Perola, BW Penninx, NL Pedersen, C Pattaro, AN Parker, G Pare, BA Oostra, CJ O'Donnell, MS Nieminen, DA Nickerson, GW Montgomery, T Meitinger, R McPherson, MI McCarthy, W McArdle, D Masson, NG Martin, F Marroni, M Mangino, PK Magnusson, G Lucas, R Luben, RJ Loos, ML Lokki, G Lettre, C Langenberg, LJ Launer, EG Lakatta, R Laaksonen, KO Kyvik, F Kronenberg, IR König, KT Khaw, J Kaprio, LM Kaplan, A Johansson, MR Jarvelin, AC Janssens, E Ingelsson, W Igl, G Kees Hovingh, JJ Hottenga, A Hofman, AA Hicks, C Hengstenberg, IM Heid, C Hayward, AS Havulinna, ND Hastie, TB Harris, T Haritunians, AS Hall, U Gyllensten, C Guiducci, LC Groop, E Gonzalez, C Gieger, NB Freimer, L Ferrucci, J Erdmann, P Elliott, KG Ejebe, A Döring, AF Dominiczak, S Demissie, P Deloukas, EJ de Geus, U de Faire, G Crawford, FS Collins, YD Chen, MJ Caulfield, H Campbell, NP Burtt, LL Bonnycastle, DI Boomsma, SM Boekholdt, RN Bergman, I Barroso, S Bandinelli, CM Ballantyne, TL Assimes, T Quertermous, D Altshuler, M Seielstad, TY Wong, ES Tai, AB Feranil, CW Kuzawa, LS Adair, HA Taylor, IB Borecki, SB Gabriel, JG Wilson, H Holm, U Thorsteinsdottir, V Gudnason, RM Krauss, KL Mohlke, JM Ordovas, PB Munroe, JS Kooner, AR Tall, RA Hegele, JJ Kastelein, EE Schadt, JI Rotter, E Boerwinkle, DP Strachan, V Mooser, K Stefansson, MP Reilly, NJ Samani, H Schunkert, LA Cupples, MS Sandhu, PM Ridker, DJ Rader, CM van Duijn, L Peltonen, GR Abecasis, M Boehnke, S Kathiresan
Publication Date: 2010-08-05

Variant appearance in text: rs2144300
PubMed Link: 20686565
Variant Present in the following documents:
  • NIHMS213289-supplement-1.pdf
View BVdb publication page



Genetic causes of high and low serum HDL-cholesterol.

Journal Of Lipid Research
D Weissglas-Volkov, P Pajukanta
Publication Date: 2010-08

Variant appearance in text: rs2144300
PubMed Link: 20421590
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of obesity and the metabolic syndrome.

Endocrine, Metabolic & Immune Disorders Drug Targets
KL Monda, KE North, SC Hunt, DC Rao, MA Province, AT Kraja
Publication Date: 2010-06

Variant appearance in text: rs2144300
PubMed Link: 20406164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association of lipid-lowering response to statins in combined study populations.

Plos One
MJ Barber, LM Mangravite, CL Hyde, DI Chasman, JD Smith, CA McCarty, X Li, RA Wilke, MJ Rieder, PT Williams, PM Ridker, A Chatterjee, JI Rotter, DA Nickerson, M Stephens, RM Krauss
Publication Date: 2010-03-22

Variant appearance in text: rs2144300
PubMed Link: 20339536
Variant Present in the following documents:
  • pone.0009763.s007.xls
View BVdb publication page



Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.

Nucleic Acids Research
O Wallerman, M Motallebipour, S Enroth, K Patra, MS Bysani, J Komorowski, C Wadelius
Publication Date: 2009-12

Variant appearance in text: rs2144300
PubMed Link: 19822575
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.

European Heart Journal
A Murray, C Cluett, S Bandinelli, AM Corsi, L Ferrucci, J Guralnik, A Singleton, T Frayling, D Melzer
Publication Date: 2009-07

Variant appearance in text: rs2144300
PubMed Link: 19435741
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.

American Journal Of Human Genetics
L Ferrucci, JR Perry, A Matteini, M Perola, T Tanaka, K Silander, N Rice, D Melzer, A Murray, C Cluett, LP Fried, D Albanes, AM Corsi, A Cherubini, J Guralnik, S Bandinelli, A Singleton, J Virtamo, J Walston, RD Semba, TM Frayling
Publication Date: 2009-02

Variant appearance in text: rs2144300
PubMed Link: 19185284
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2144300
PubMed Link: 19060911
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
E Boes, S Coassin, B Kollerits, IM Heid, F Kronenberg
Publication Date: 2009-03

Variant appearance in text: rs2144300
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

Human Molecular Genetics
KL Mohlke, M Boehnke, GR Abecasis
Publication Date: 2008-10-15

Variant appearance in text: rs2144300
PubMed Link: 18852197
Variant Present in the following documents:
  • Main text
View BVdb publication page



Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Nature Genetics
CJ Willer, S Sanna, AU Jackson, A Scuteri, LL Bonnycastle, R Clarke, SC Heath, NJ Timpson, SS Najjar, HM Stringham, J Strait, WL Duren, A Maschio, F Busonero, A Mulas, G Albai, AJ Swift, MA Morken, N Narisu, D Bennett, S Parish, H Shen, P Galan, P Meneton, S Hercberg, D Zelenika, WM Chen, Y Li, LJ Scott, PA Scheet, J Sundvall, RM Watanabe, R Nagaraja, S Ebrahim, DA Lawlor, Y Ben-Shlomo, G Davey-Smith, AR Shuldiner, R Collins, RN Bergman, M Uda, J Tuomilehto, A Cao, FS Collins, E Lakatta, GM Lathrop, M Boehnke, D Schlessinger, KL Mohlke, GR Abecasis
Publication Date: 2008-02

Variant appearance in text: rs2144300
PubMed Link: 18193043
Variant Present in the following documents:
  • Main text
  • NIHMS836655-supplement-Supplementary_Material.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366672.4 c.127-19048C>T - intron_variant - 1/15
ENST00000494106.1 n.90-19048C>T - intron_variant,non_coding_transcript_variant - 1/6
ENST00000541865.1 c.-50-43967C>T - intron_variant - 1/12
ENST00000543760.1 c.13-19048C>T - intron_variant - 1/15
NM_001291866.2 c.13-19048C>T - intron_variant - 1/15
NM_004481.5 c.127-19048C>T - intron_variant - 1/15