Variant ID: 7-80300449-T-G

NM_001001547.2(CD36):c.975T>G;(p.Tyr325*)

This variant was identified in 70 publications




Publications:


Comment on Aasebø, E., et al. "The Progression of Acute Myeloid Leukemia from First Diagnosis to Chemoresistant Relapse: A Comparison of Proteomic and Phosphoproteomic Profiles". Cancers 2020, 12, 1466.

Cancers
P DeRosa, V Nava
Publication Date: 2020-08-31

Variant appearance in text: CD36: Y325*
PubMed Link: 32878013
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection.

Genome Biology
ZZ Tang, GR Sliwoski, G Chen, B Jin, WS Bush, B Li, JA Capra
Publication Date: 2020-08-26

Variant appearance in text: CD36: Y325*
PubMed Link: 32847609
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.

Human Genetics
PD Stenson, M Mort, EV Ball, M Chapman, K Evans, L Azevedo, M Hayden, S Heywood, DS Millar, AD Phillips, DN Cooper
Publication Date: 2020-10

Variant appearance in text: CD36: Tyr325*
PubMed Link: 32596782
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of CD36 in Type 2 Diabetes Mellitus: β-Cell Dysfunction and Beyond.

Diabetes & Metabolism Journal
JS Moon, U Karunakaran, E Suma, SM Chung, KC Won
Publication Date: 2020-04

Variant appearance in text: rs3211938
PubMed Link: 32347024
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Impact of Next-generation Sequencing in Pediatric Neuro-Oncology Patients: A Single-institutional Experience.

Cureus
V Barsan, M Paul, H Gorsi, D Malicki, J Elster, DJ Kuo, J Crawford
Publication Date: 2019-12-03

Variant appearance in text: CD36: Y325*
PubMed Link: 31827999
PubMed Central Link
Variant Present in the following documents:
  • cureus-0011-00000006281.pdf
  • Main text
View BVdb publication page



Genetics of Malaria Inflammatory Responses: A Pathogenesis Perspective.

Frontiers In Immunology
C Penha-Gonçalves
Publication Date: 2019

Variant appearance in text: rs3211938
PubMed Link: 31417551
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Table_1.pdf
View BVdb publication page



CD 36: Focus on Epigenetic and Post-Transcriptional Regulation.

Frontiers In Genetics
CM Niculite, AM Enciu, ME Hinescu
Publication Date: 2019

Variant appearance in text: rs3211938
PubMed Link: 31379931
PubMed Central Link
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: rs3211938
PubMed Link: 30670697
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_8008_MOESM7_ESM.xlsx
  • 41467_2018_8008_MOESM10_ESM.xlsx
View BVdb publication page



Host genetic polymorphisms and serological response against malaria in a selected population in Sri Lanka.

Malaria Journal
RL Dewasurendra, A Jeffreys, SA Gunawardena, NV Chandrasekharan, K Rockett, D Kwiatkowski, ND Karunaweera
Publication Date: 2018-12-17

Variant appearance in text: rs3211938
PubMed Link: 30558622
PubMed Central Link
Variant Present in the following documents:
  • 12936_2018_2622_MOESM1_ESM.xlsx
View BVdb publication page



Human candidate gene polymorphisms and risk of severe malaria in children in Kilifi, Kenya: a case-control association study.

The Lancet. Haematology
CM Ndila, S Uyoga, AW Macharia, G Nyutu, N Peshu, J Ojal, M Shebe, KO Awuondo, N Mturi, B Tsofa, N Sepúlveda, TG Clark, G Band, G Clarke, K Rowlands, C Hubbart, A Jeffreys, S Kariuki, K Marsh, M Mackinnon, K Maitland, DP Kwiatkowski, KA Rockett, TN Williams,
Publication Date: 2018-08

Variant appearance in text: rs3211938
PubMed Link: 30033078
PubMed Central Link
Variant Present in the following documents:
  • mmc1.pdf
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: rs3211938
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



African genetic diversity provides novel insights into evolutionary history and local adaptations.

Human Molecular Genetics
A Choudhury, S Aron, D Sengupta, S Hazelhurst, M Ramsay
Publication Date: 2018-08-01

Variant appearance in text: rs3211938
PubMed Link: 29741686
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



CD36 Modulates Fasting and Preabsorptive Hormone and Bile Acid Levels.

The Journal Of Clinical Endocrinology And Metabolism
CA Shibao, JE Celedonio, R Tamboli, R Sidani, L Love-Gregory, T Pietka, Y Xiong, Y Wei, NN Abumrad, NA Abumrad, CR Flynn
Publication Date: 2018-05-01

Variant appearance in text: rs3211938
PubMed Link: 29546316
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transcriptional Regulatory Mechanisms in Adipose and Muscle Tissue Associated with Composite Glucometabolic Phenotypes.

Obesity (Silver Spring, Md.)
CD Langefeld, ME Comeau, NK Sharma, DW Bowden, BI Freedman, SK Das
Publication Date: 2018-03

Variant appearance in text: rs3211938
PubMed Link: 29377571
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations.

Genome Biology
M Szpak, M Mezzavilla, Q Ayub, Y Chen, Y Xue, C Tyler-Smith
Publication Date: 2018-01-17

Variant appearance in text: rs3211938
PubMed Link: 29343290
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human genetics of infectious diseases: Unique insights into immunological redundancy.

Seminars In Immunology
JL Casanova, L Abel
Publication Date: 2018-04

Variant appearance in text: CD36: Y325X
PubMed Link: 29254755
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: rs3211938
PubMed Link: 29083407
PubMed Central Link
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
  • Main text
  • NIHMS909133-supplement-1.docx
View BVdb publication page



Evaluating the Causal Link Between Malaria Infection and Endemic Burkitt Lymphoma in Northern Uganda: A Mendelian Randomization Study.

Ebiomedicine
ID Legason, RM Pfeiffer, KI Udquim, AW Bergen, MH Gouveia, S Kirimunda, I Otim, E Karlins, P Kerchan, H Nabalende, A Bayanjargal, B Emmanuel, P Kagwa, AO Talisuna, K Bhatia, M Yeager, RJ Biggar, LW Ayers, SJ Reynolds, JJ Goedert, MD Ogwang, JF Fraumeni, L Prokunina-Olsson, SM Mbulaiteye
Publication Date: 2017-11

Variant appearance in text: rs3211938
PubMed Link: 29033373
PubMed Central Link
Variant Present in the following documents:
  • mmc1.docx
  • Main text
View BVdb publication page



Association of red cell distribution width with all-cause and cardiovascular-specific mortality in African American and white adults: a prospective cohort study.

Journal Of Translational Medicine
SM Tajuddin, MA Nalls, AB Zonderman, MK Evans
Publication Date: 2017-10-13

Variant appearance in text: rs3211938
PubMed Link: 29029617
PubMed Central Link
Variant Present in the following documents:
  • 12967_2017_1313_MOESM1_ESM.docx
  • Main text
View BVdb publication page



Genetic regulation of adipose tissue transcript expression is involved in modulating serum triglyceride and HDL-cholesterol.

Gene
SP Sajuthi, NK Sharma, ME Comeau, JW Chou, DW Bowden, BI Freedman, CD Langefeld, JS Parks, SK Das
Publication Date: 2017-10-20

Variant appearance in text: rs3211938
PubMed Link: 28844666
PubMed Central Link
Variant Present in the following documents:
  • NIHMS903954-supplement-2.xlsx
View BVdb publication page



Malaria Host Candidate Genes Validated by Association With Current, Recent, and Historical Measures of Transmission Intensity.

The Journal Of Infectious Diseases
N Sepúlveda, A Manjurano, SG Campino, M Lemnge, J Lusingu, R Olomi, KA Rockett, C Hubbart, A Jeffreys, K Rowlands, TG Clark, EM Riley, CJ Drakeley,
Publication Date: 2017-07-01

Variant appearance in text: rs3211938
PubMed Link: 28541483
PubMed Central Link
Variant Present in the following documents:
  • jix250_suppl_supplementary_figure_1.pdf
  • Main text
View BVdb publication page



CD36 deficiency impairs the small intestinal barrier and induces subclinical inflammation in mice.

Cellular And Molecular Gastroenterology And Hepatology
V Cifarelli, S Ivanov, Y Xie, NH Son, BT Saunders, TA Pietka, TM Shew, J Yoshino, S Sundaresan, NO Davidson, IJ Goldberg, AE Gelman, BH Zinselmeyer, GJ Randolph, NA Abumrad
Publication Date: 2017-01

Variant appearance in text: rs3211938
PubMed Link: 28066800
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss-of-function variants influence the human serum metabolome.

Science Advances
B Yu, AH Li, GA Metcalf, DM Muzny, AC Morrison, S White, TH Mosley, RA Gibbs, E Boerwinkle
Publication Date: 2016-08

Variant appearance in text: CD36: 975T>G
PubMed Link: 27602404
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.

American Journal Of Human Genetics
N Chami, MH Chen, AJ Slater, JD Eicher, E Evangelou, SM Tajuddin, L Love-Gregory, T Kacprowski, UM Schick, A Nomura, A Giri, S Lessard, JA Brody, C Schurmann, N Pankratz, LR Yanek, A Manichaikul, R Pazoki, E Mihailov, WD Hill, LM Raffield, A Burt, TM Bartz, DM Becker, LC Becker, E Boerwinkle, J Bork-Jensen, EP Bottinger, ML O'Donoghue, DR Crosslin, S de Denus, MP Dubé, P Elliott, G Engström, MK Evans, JS Floyd, M Fornage, H Gao, A Greinacher, V Gudnason, T Hansen, TB Harris, C Hayward, J Hernesniemi, HM Highland, JN Hirschhorn, A Hofman, MR Irvin, M Kähönen, E Lange, LJ Launer, T Lehtimäki, J Li, DC Liewald, A Linneberg, Y Liu, Y Lu, LP Lyytikäinen, R Mägi, RA Mathias, O Melander, A Metspalu, N Mononen, MA Nalls, DA Nickerson, K Nikus, CJ O'Donnell, M Orho-Melander, O Pedersen, A Petersmann, L Polfus, BM Psaty, OT Raitakari, E Raitoharju, M Richard, KM Rice, F Rivadeneira, JI Rotter, F Schmidt, AV Smith, JM Starr, KD Taylor, A Teumer, BH Thuesen, ES Torstenson, RP Tracy, I Tzoulaki, NA Zakai, C Vacchi-Suzzi, CM van Duijn, FJ van Rooij, M Cushman, IJ Deary, DR Velez Edwards, AC Vergnaud, L Wallentin, DM Waterworth, HD White, JG Wilson, AB Zonderman, S Kathiresan, N Grarup, T Esko, RJ Loos, LA Lange, N Faraday, NA Abumrad, TL Edwards, SK Ganesh, PL Auer, AD Johnson, AP Reiner, G Lettre
Publication Date: 2016-07-07

Variant appearance in text: CD36: 975T>G; Tyr325Ter; rs3211938
PubMed Link: 27346685
PubMed Central Link
Variant Present in the following documents:
  • mmc2.xlsx
  • Main text
  • mmc3.pdf
  • mmc1.pdf
View BVdb publication page



Mapping adipose and muscle tissue expression quantitative trait loci in African Americans to identify genes for type 2 diabetes and obesity.

Human Genetics
SP Sajuthi, NK Sharma, JW Chou, ND Palmer, DR McWilliams, J Beal, ME Comeau, L Ma, J Calles-Escandon, J Demons, S Rogers, K Cherry, L Menon, E Kouba, D Davis, M Burris, SJ Byerly, MC Ng, NM Maruthur, SR Patel, LF Bielak, LA Lange, X Guo, MM Sale, KH Chan, KL Monda, GK Chen, K Taylor, C Palmer, TL Edwards, KE North, CA Haiman, DW Bowden, BI Freedman, CD Langefeld, SK Das
Publication Date: 2016-08

Variant appearance in text: rs3211938
PubMed Link: 27193597
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical response to everolimus in a patient with Hodgkin's lymphoma harboring a TSC2 mutation.

Blood Cancer Journal
GF Perini, PV Campregher, JS Ross, S Ali, N Hamerschlak, FP Santos
Publication Date: 2016-05-13

Variant appearance in text: CD36: Y325*
PubMed Link: 27176796
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Common CD36 Variant Influences Endothelial Function and Response to Treatment with Phosphodiesterase 5 Inhibition.

The Journal Of Clinical Endocrinology And Metabolism
CA Shibao, JE Celedonio, CE Ramirez, L Love-Gregory, AC Arnold, L Choi, LE Okamoto, A Gamboa, I Biaggioni, NN Abumrad, NA Abumrad
Publication Date: 2016-07

Variant appearance in text: rs3211938
PubMed Link: 27144937
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between rs1761667 polymorphism of CD36 gene and risk of coronary atherosclerosis in Egyptian population.

Cardiovascular Diagnosis And Therapy
A Boghdady, UA Arafa, EA Sabet, E Salama, A El Sharawy, MI Elbadry
Publication Date: 2016-04

Variant appearance in text: rs3211938
PubMed Link: 27054101
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Premature termination codons in modern human genomes.

Scientific Reports
K Fujikura
Publication Date: 2016-03-02

Variant appearance in text: rs3211938
PubMed Link: 26932450
PubMed Central Link
Variant Present in the following documents:
  • srep22468-s1.pdf
View BVdb publication page



Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes.

American Journal Of Human Genetics
M Deschamps, G Laval, M Fagny, Y Itan, L Abel, JL Casanova, E Patin, L Quintana-Murci
Publication Date: 2016-01-07

Variant appearance in text: CD36: 975T>G; Tyr325Ter; rs3211938
PubMed Link: 26748513
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • mmc7.pdf
  • mmc1.pdf
View BVdb publication page



Dissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing tools.

Molecular Metabolism
AK Teo, MK Gupta, A Doria, RN Kulkarni
Publication Date: 2015-09

Variant appearance in text: rs3211938
PubMed Link: 26413465
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of anti-malarial acquired immunity in a large multi-centre study.

Malaria Journal
JM Shelton, P Corran, P Risley, N Silva, C Hubbart, A Jeffreys, K Rowlands, R Craik, V Cornelius, M Hensmann, S Molloy, N Sepulveda, TG Clark, G Band, GM Clarke, CC Spencer, A Kerasidou, S Campino, S Auburn, A Tall, AB Ly, O Mercereau-Puijalon, A Sakuntabhai, A Djimdé, B Maiga, O Touré, OK Doumbo, A Dolo, M Troye-Blomberg, VD Mangano, F Verra, D Modiano, E Bougouma, SB Sirima, M Ibrahim, A Hussain, N Eid, A Elzein, H Mohammed, A Elhassan, I Elhassan, TN Williams, C Ndila, A Macharia, K Marsh, A Manjurano, H Reyburn, M Lemnge, D Ishengoma, R Carter, N Karunaweera, D Fernando, R Dewasurendra, CJ Drakeley, EM Riley, DP Kwiatkowski, KA Rockett,
Publication Date: 2015-08-28

Variant appearance in text: rs3211938
PubMed Link: 26314886
PubMed Central Link
Variant Present in the following documents:
  • 12936_2015_833_MOESM18_ESM.pdf
  • 12936_2015_833_MOESM15_ESM.pdf
  • 12936_2015_833_MOESM17_ESM.pdf
  • 12936_2015_833_MOESM3_ESM.pdf
  • 12936_2015_833_MOESM16_ESM.pdf
  • Main text
View BVdb publication page



Multiple loss-of-function variants of taste receptors in modern humans.

Scientific Reports
K Fujikura
Publication Date: 2015-08-26

Variant appearance in text: rs3211938
PubMed Link: 26307445
PubMed Central Link
Variant Present in the following documents:
  • srep12349-s1.pdf
View BVdb publication page



Reappraisal of known malaria resistance loci in a large multicenter study.

Nature Genetics
,
Publication Date: 2014-11

Variant appearance in text: rs3211938
PubMed Link: 25261933
PubMed Central Link
Variant Present in the following documents:
  • NIHMS626188-supplement-2.pdf
View BVdb publication page



Pharmacogenetic effects of 'candidate gene complexes' on stroke in the GenHAT study.

Pharmacogenetics And Genomics
IF Sørensen, AI Vazquez, MR Irvin, P Sørensen, BR Davis, CE Ford, E Boerwinkle, JH Eckfeldt, DK Arnett
Publication Date: 2014-11

Variant appearance in text: rs3211938
PubMed Link: 25171760
PubMed Central Link
Variant Present in the following documents:
  • NIHMS619369-supplement-SDC_1.xlsx
  • NIHMS619369-supplement-SDC_3.xlsx
  • NIHMS619369-supplement-SDC_5.xlsx
View BVdb publication page



On the performance of multiple imputation based on chained equations in tackling missing data of the African α3.7 -globin deletion in a malaria association study.

Annals Of Human Genetics
N Sepúlveda, A Manjurano, C Drakeley, TG Clark
Publication Date: 2014-07

Variant appearance in text: rs3211938
PubMed Link: 24942080
PubMed Central Link
Variant Present in the following documents:
  • ahg0078-0277-sd1.docx
  • Main text
View BVdb publication page



Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study.

Malaria Journal
TO Apinjoh, JK Anchang-Kimbi, C Njua-Yafi, AN Ngwai, RN Mugri, TG Clark, KA Rockett, DP Kwiatkowski, EA Achidi,
Publication Date: 2014-06-16

Variant appearance in text: rs3211938
PubMed Link: 24934404
PubMed Central Link
Variant Present in the following documents:
  • 1475-2875-13-236-S2.doc
  • 1475-2875-13-236-S1.doc
  • Main text
View BVdb publication page



Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.

Plos One
JD Mosley, SL Van Driest, EK Larkin, PE Weeke, JS Witte, QS Wells, JH Karnes, Y Guo, L Bastarache, LM Olson, CA McCarty, JA Pacheco, GP Jarvik, DS Carrell, EB Larson, DR Crosslin, IJ Kullo, G Tromp, H Kuivaniemi, DJ Carey, MD Ritchie, JC Denny, DM Roden
Publication Date: 2013

Variant appearance in text: rs3211938
PubMed Link: 24349080
PubMed Central Link
Variant Present in the following documents:
  • pone.0081503.s006.xlsx
View BVdb publication page



Human candidate polymorphisms in sympatric ethnic groups differing in malaria susceptibility in Mali.

Plos One
B Maiga, A Dolo, O Touré, V Dara, A Tapily, S Campino, N Sepulveda, P Risley, N Silva, N Silva, P Corran, KA Rockett, D Kwiatkowski, , TG Clark, M Troye-Blomberg, OK Doumbo
Publication Date: 2013

Variant appearance in text: rs3211938
PubMed Link: 24098393
PubMed Central Link
Variant Present in the following documents:
  • pone.0075675.s005.docx
  • Main text
  • pone.0075675.s002.xlsx
  • pone.0075675.s001.docx
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
JM Seddon, Y Yu, EC Miller, R Reynolds, PL Tan, S Gowrisankar, JI Goldstein, M Triebwasser, HE Anderson, J Zerbib, D Kavanagh, E Souied, N Katsanis, MJ Daly, JP Atkinson, S Raychaudhuri
Publication Date: 2013-11

Variant appearance in text: rs3211938
PubMed Link: 24036952
PubMed Central Link
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx
View BVdb publication page



Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

American Journal Of Human Genetics
MA Coram, Q Duan, TJ Hoffmann, T Thornton, JW Knowles, NA Johnson, HM Ochs-Balcom, TA Donlon, LW Martin, CB Eaton, JG Robinson, NJ Risch, X Zhu, C Kooperberg, Y Li, AP Reiner, H Tang
Publication Date: 2013-06-06

Variant appearance in text: CD36: Tyr325Ter; rs3211938
PubMed Link: 23726366
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic risk of acute seizures in African children with falciparum malaria.

Epilepsia
SM Kariuki, K Rockett, TG Clark, H Reyburn, T Agbenyega, TE Taylor, GL Birbeck, TN Williams, CR Newton
Publication Date: 2013-06

Variant appearance in text: rs3211938
PubMed Link: 23614351
PubMed Central Link
Variant Present in the following documents:
  • epi0054-0990-sd2.docx
  • Main text
View BVdb publication page



Progress in genetic association studies of plasma lipids.

Current Opinion In Lipidology
FW Asselbergs, RC Lovering, F Drenos
Publication Date: 2013-04

Variant appearance in text: rs3211938
PubMed Link: 23385652
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The host genetic diversity in malaria infection.

Journal Of Tropical Medicine
VR de Mendonça, MS Goncalves, M Barral-Netto
Publication Date: 2012

Variant appearance in text: rs3211938
PubMed Link: 23316245
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: rs3211938
PubMed Link: 23236364
PubMed Central Link
Variant Present in the following documents:
  • pone.0050198.s008.xlsx
  • Main text
View BVdb publication page



Candidate human genetic polymorphisms and severe malaria in a Tanzanian population.

Plos One
A Manjurano, TG Clark, B Nadjm, G Mtove, H Wangai, N Sepulveda, SG Campino, C Maxwell, R Olomi, KR Rockett, A Jeffreys, , EM Riley, H Reyburn, C Drakeley
Publication Date: 2012

Variant appearance in text: rs3211938
PubMed Link: 23144702
PubMed Central Link
Variant Present in the following documents:
  • pone.0047463.s001.docx
View BVdb publication page



Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project.

American Journal Of Human Genetics
PL Auer, JM Johnsen, AD Johnson, BA Logsdon, LA Lange, MA Nalls, G Zhang, N Franceschini, K Fox, EM Lange, SS Rich, CJ O'Donnell, RD Jackson, RB Wallace, Z Chen, TA Graubert, JG Wilson, H Tang, G Lettre, AP Reiner, SK Ganesh, Y Li
Publication Date: 2012-11-02

Variant appearance in text: rs3211938
PubMed Link: 23103231
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
View BVdb publication page



Candidate polymorphisms and severe malaria in a Malian population.

Plos One
O Toure, S Konate, S Sissoko, A Niangaly, A Barry, AH Sall, E Diarra, B Poudiougou, N Sepulveda, S Campino, KA Rockett, TG Clark, MA Thera, O Doumbo,
Publication Date: 2012

Variant appearance in text: rs3211938
PubMed Link: 22957039
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • pone.0043987.s001.doc
View BVdb publication page



Evidence for additive and interaction effects of host genotype and infection in malaria.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Y Idaghdour, J Quinlan, JP Goulet, J Berghout, E Gbeha, V Bruat, T de Malliard, JC Grenier, S Gomez, P Gros, MC Rahimy, A Sanni, P Awadalla
Publication Date: 2012-10-16

Variant appearance in text: rs3211938
PubMed Link: 22949651
PubMed Central Link
Variant Present in the following documents:
  • sd04.xls
View BVdb publication page



Genetic polymorphisms associated with anti-malarial antibody levels in a low and unstable malaria transmission area in southern Sri Lanka.

Malaria Journal
RL Dewasurendra, P Suriyaphol, SD Fernando, R Carter, K Rockett, P Corran, D Kwiatkowski, ND Karunaweera,
Publication Date: 2012-08-20

Variant appearance in text: rs3211938
PubMed Link: 22905743
PubMed Central Link
Variant Present in the following documents:
  • 1475-2875-11-281-S2.xls
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: rs3211938
PubMed Link: 22629316
PubMed Central Link
Variant Present in the following documents:
  • pone.0036473.s004.doc
  • pone.0036473.s012.doc
  • Main text
View BVdb publication page



Investigation of host candidate malaria-associated risk/protective SNPs in a Brazilian Amazonian population.

Plos One
S da Silva Santos, TG Clark, S Campino, MC Suarez-Mutis, KA Rockett, DP Kwiatkowski, O Fernandes
Publication Date: 2012

Variant appearance in text: rs3211938
PubMed Link: 22615793
PubMed Central Link
Variant Present in the following documents:
  • pone.0036692.s003.xls
  • pone.0036692.s004.xls
  • pone.0036692.s006.xls
  • pone.0036692.s007.xls
  • pone.0036692.s005.xls
  • pone.0036692.s001.xls
View BVdb publication page



Metabolic syndrome is linked to chromosome 7q21 and associated with genetic variants in CD36 and GNAT3 in Mexican Americans.

Obesity (Silver Spring, Md.)
VS Farook, S Puppala, J Schneider, SP Fowler, G Chittoor, TD Dyer, H Allayee, SA Cole, R Arya, MH Black, JE Curran, L Almasy, TA Buchanan, CP Jenkinson, DM Lehman, RM Watanabe, J Blangero, R Duggirala
Publication Date: 2012-10

Variant appearance in text: rs3211938
PubMed Link: 22456541
PubMed Central Link
Variant Present in the following documents:
  • NIHMS365351-supplement-supplement_1.pdf
View BVdb publication page



Inter-chromosomal level of genome organization and longevity-related phenotypes in humans.

Age (Dordrecht, Netherlands)
AM Kulminski, I Culminskaya, AI Yashin
Publication Date: 2013-04

Variant appearance in text: rs3211938
PubMed Link: 22282054
PubMed Central Link
Variant Present in the following documents:
  • 11357_2011_9374_MOESM1_ESM.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000309881.7 c.975T>G p.Tyr325* stop_gained 10/14 -
ENST00000394788.3 c.975T>G p.Tyr325* stop_gained 10/14 -
ENST00000419819.2 c.975T>G p.Tyr325* stop_gained 8/12 -
ENST00000432207.1 c.975T>G p.Tyr325* stop_gained 9/13 -
ENST00000433696.2 c.858T>G p.Tyr286* stop_gained 6/10 -
ENST00000435819.1 c.975T>G p.Tyr325* stop_gained 13/17 -
ENST00000447544.2 c.975T>G p.Tyr325* stop_gained 10/15 -
ENST00000464213.1 n.1757T>G - non_coding_transcript_exon_variant 2/5 -
ENST00000534394.1 c.747T>G p.Tyr249* stop_gained 8/12 -
ENST00000538969.1 c.795T>G p.Tyr265* stop_gained 7/11 -
ENST00000544133.1 c.819-789T>G - intron_variant - 7/10
NM_000072.3 c.975T>G p.Tyr325* stop_gained 10/14 -
NM_001001547.3 c.975T>G p.Tyr325* stop_gained 10/14 -
NM_001001548.2 c.975T>G p.Tyr325* stop_gained 10/15 -
NM_001127443.1 c.975T>G p.Tyr325* stop_gained 9/13 -
NM_001127444.2 c.975T>G p.Tyr325* stop_gained 8/12 -
NM_001289908.1 c.858T>G p.Tyr286* stop_gained 6/10 -
NM_001289909.1 c.795T>G p.Tyr265* stop_gained 8/12 -
NM_001289911.2 c.747T>G p.Tyr249* stop_gained 8/12 -
NM_001371074.1 c.975T>G p.Tyr325* stop_gained 10/14 -
NM_001371075.1 c.975T>G p.Tyr325* stop_gained 10/15 -
NM_001371077.1 c.975T>G p.Tyr325* stop_gained 10/15 -
NM_001371078.1 c.975T>G p.Tyr325* stop_gained 10/14 -
NM_001371079.1 c.873T>G p.Tyr291* stop_gained 10/14 -
NM_001371080.1 c.510T>G p.Tyr170* stop_gained 7/11 -
NM_001371081.1 c.510T>G p.Tyr170* stop_gained 10/14 -
NR_110501.1 n.998-789T>G - intron_variant,non_coding_transcript_variant - 8/11