Variant ID: 16-28837515-T-G

NM_007245.3(ATXN2L):c.466-46T>G

This variant was identified in 66 publications




Publications:


Exploiting horizontal pleiotropy to search for causal pathways within a Mendelian randomization framework.

Nature Communications
Y Cho, PC Haycock, E Sanderson, TR Gaunt, J Zheng, AP Morris, G Davey Smith, G Hemani
Publication Date: 2020-02-21

Variant appearance in text: rs8049439
PubMed Link: 32081875
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI.

Translational Psychiatry
C Pisanu, MJ Williams, DM Ciuculete, G Olivo, M Del Zompo, A Squassina, HB Schiöth
Publication Date: 2019-11-21

Variant appearance in text: rs8049439
PubMed Link: 31754094
Variant Present in the following documents:
  • 41398_2019_652_MOESM7_ESM.docx
  • 41398_2019_Article_652.pdf
  • aaaaaMain text
View BVdb publication page



Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes.

American Journal Of Human Genetics
E Bahrami-Samani, Y Xing
Publication Date: 2019-03-07

Variant appearance in text: rs8049439
PubMed Link: 30827501
Variant Present in the following documents:
  • mmc6.xlsx
View BVdb publication page



Genome-wide association study results for educational attainment aid in identifying genetic heterogeneity of schizophrenia.

Nature Communications
V Bansal, M Mitjans, CAP Burik, RK Linnér, A Okbay, CA Rietveld, M Begemann, S Bonn, S Ripke, R de Vlaming, MG Nivard, H Ehrenreich, PD Koellinger
Publication Date: 2018-08-06

Variant appearance in text: rs8049439
PubMed Link: 30082721
Variant Present in the following documents:
  • 41467_2018_5510_MOESM26_ESM.xlsx
  • 41467_2018_5510_MOESM5_ESM.xlsx
View BVdb publication page



Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs.

Nature Genetics
MGP van der Wijst, H Brugge, DH de Vries, P Deelen, MA Swertz, , , L Franke
Publication Date: 2018-04

Variant appearance in text: rs8049439
PubMed Link: 29610479
Variant Present in the following documents:
  • NIHMS76345-supplement-Supplementary_table_1.xlsx
View BVdb publication page



Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits.

Nature Communications
Y Wu, J Zeng, F Zhang, Z Zhu, T Qi, Z Zheng, LR Lloyd-Jones, RE Marioni, NG Martin, GW Montgomery, IJ Deary, NR Wray, PM Visscher, AF McRae, J Yang
Publication Date: 2018-03-02

Variant appearance in text: rs8049439
PubMed Link: 29500431
Variant Present in the following documents:
  • 41467_2018_3371_MOESM7_ESM.xlsx
  • 41467_2018_3371_MOESM8_ESM.xlsx
View BVdb publication page



Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

American Journal Of Human Genetics
I Tachmazidou, D Süveges, JL Min, GRS Ritchie, J Steinberg, K Walter, V Iotchkova, J Schwartzentruber, J Huang, Y Memari, S McCarthy, AA Crawford, C Bombieri, M Cocca, AE Farmaki, TR Gaunt, P Jousilahti, MN Kooijman, B Lehne, G Malerba, S Männistö, A Matchan, C Medina-Gomez, SJ Metrustry, A Nag, I Ntalla, L Paternoster, NW Rayner, C Sala, WR Scott, HA Shihab, L Southam, B St Pourcain, M Traglia, K Trajanoska, G Zaza, W Zhang, MS Artigas, N Bansal, M Benn, Z Chen, P Danecek, WY Lin, A Locke, J Luan, AK Manning, A Mulas, C Sidore, A Tybjaerg-Hansen, A Varbo, M Zoledziewska, C Finan, K Hatzikotoulas, AE Hendricks, JP Kemp, A Moayyeri, K Panoutsopoulou, M Szpak, SG Wilson, M Boehnke, F Cucca, E Di Angelantonio, C Langenberg, C Lindgren, MI McCarthy, AP Morris, BG Nordestgaard, RA Scott, MD Tobin, NJ Wareham, , , P Burton, JC Chambers, GD Smith, G Dedoussis, JF Felix, OH Franco, G Gambaro, P Gasparini, CJ Hammond, A Hofman, VWV Jaddoe, M Kleber, JS Kooner, M Perola, C Relton, SM Ring, F Rivadeneira, V Salomaa, TD Spector, O Stegle, D Toniolo, AG Uitterlinden, , , , I Barroso, CMT Greenwood, JRB Perry, BR Walker, AS Butterworth, Y Xue, R Durbin, KS Small, N Soranzo, NJ Timpson, E Zeggini
Publication Date: 2017-06-01

Variant appearance in text: rs8049439
PubMed Link: 28552196
Variant Present in the following documents:
  • mmc12.xlsx
View BVdb publication page



Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

Nature Communications
AE Justice, TW Winkler, MF Feitosa, M Graff, VA Fisher, K Young, L Barata, X Deng, J Czajkowski, D Hadley, JS Ngwa, TS Ahluwalia, AY Chu, NL Heard-Costa, E Lim, J Perez, JD Eicher, Z Kutalik, L Xue, A Mahajan, F Renström, J Wu, Q Qi, S Ahmad, T Alfred, N Amin, LF Bielak, A Bonnefond, J Bragg, G Cadby, M Chittani, S Coggeshall, T Corre, N Direk, J Eriksson, K Fischer, M Gorski, M Neergaard Harder, M Horikoshi, T Huang, JE Huffman, AU Jackson, JM Justesen, S Kanoni, L Kinnunen, ME Kleber, P Komulainen, M Kumari, U Lim, J Luan, LP Lyytikäinen, M Mangino, A Manichaikul, J Marten, RPS Middelberg, M Müller-Nurasyid, P Navarro, L Pérusse, N Pervjakova, C Sarti, AV Smith, JA Smith, A Stančáková, RJ Strawbridge, HM Stringham, YJ Sung, T Tanaka, A Teumer, S Trompet, SW van der Laan, PJ van der Most, JV Van Vliet-Ostaptchouk, SL Vedantam, N Verweij, JM Vink, V Vitart, Y Wu, L Yengo, W Zhang, J Hua Zhao, ME Zimmermann, N Zubair, GR Abecasis, LS Adair, S Afaq, U Afzal, SJL Bakker, TM Bartz, J Beilby, RN Bergman, S Bergmann, R Biffar, J Blangero, E Boerwinkle, LL Bonnycastle, E Bottinger, D Braga, BM Buckley, S Buyske, H Campbell, JC Chambers, FS Collins, JE Curran, GJ de Borst, AJM de Craen, EJC de Geus, G Dedoussis, GE Delgado, HM den Ruijter, G Eiriksdottir, AL Eriksson, T Esko, JD Faul, I Ford, T Forrester, K Gertow, B Gigante, N Glorioso, J Gong, H Grallert, TB Grammer, N Grarup, S Haitjema, G Hallmans, A Hamsten, T Hansen, TB Harris, CA Hartman, M Hassinen, ND Hastie, AC Heath, D Hernandez, L Hindorff, LJ Hocking, M Hollensted, OL Holmen, G Homuth, J Jan Hottenga, J Huang, J Hung, N Hutri-Kähönen, E Ingelsson, AL James, JO Jansson, MR Jarvelin, MA Jhun, ME Jørgensen, M Juonala, M Kähönen, M Karlsson, HA Koistinen, I Kolcic, G Kolovou, C Kooperberg, BK Krämer, J Kuusisto, K Kvaløy, TA Lakka, C Langenberg, LJ Launer, K Leander, NR Lee, L Lind, CM Lindgren, A Linneberg, S Lobbens, M Loh, M Lorentzon, R Luben, G Lubke, A Ludolph-Donislawski, S Lupoli, PAF Madden, R Männikkö, P Marques-Vidal, NG Martin, CA McKenzie, B McKnight, D Mellström, C Menni, GW Montgomery, AB Musk, N Narisu, M Nauck, IM Nolte, AJ Oldehinkel, M Olden, KK Ong, S Padmanabhan, PA Peyser, C Pisinger, DJ Porteous, OT Raitakari, T Rankinen, DC Rao, LJ Rasmussen-Torvik, R Rawal, T Rice, PM Ridker, LM Rose, SA Bien, I Rudan, S Sanna, MA Sarzynski, N Sattar, K Savonen, D Schlessinger, S Scholtens, C Schurmann, RA Scott, B Sennblad, MA Siemelink, G Silbernagel, PE Slagboom, H Snieder, JA Staessen, DJ Stott, MA Swertz, AJ Swift, KD Taylor, BO Tayo, B Thorand, D Thuillier, J Tuomilehto, AG Uitterlinden, L Vandenput, MC Vohl, H Völzke, JM Vonk, G Waeber, M Waldenberger, RGJ Westendorp, S Wild, G Willemsen, BHR Wolffenbuttel, A Wong, AF Wright, W Zhao, MC Zillikens, D Baldassarre, B Balkau, S Bandinelli, CA Böger, DI Boomsma, C Bouchard, M Bruinenberg, DI Chasman, YD Chen, PS Chines, RS Cooper, F Cucca, D Cusi, U Faire, L Ferrucci, PW Franks, P Froguel, P Gordon-Larsen, HJ Grabe, V Gudnason, CA Haiman, C Hayward, K Hveem, AD Johnson, J Wouter Jukema, SLR Kardia, M Kivimaki, JS Kooner, D Kuh, M Laakso, T Lehtimäki, LL Marchand, W März, MI McCarthy, A Metspalu, AP Morris, C Ohlsson, LJ Palmer, G Pasterkamp, O Pedersen, A Peters, U Peters, O Polasek, BM Psaty, L Qi, R Rauramaa, BH Smith, TIA Sørensen, K Strauch, H Tiemeier, E Tremoli, P van der Harst, H Vestergaard, P Vollenweider, NJ Wareham, DR Weir, JB Whitfield, JF Wilson, J Tyrrell, TM Frayling, I Barroso, M Boehnke, P Deloukas, CS Fox, JN Hirschhorn, DJ Hunter, TD Spector, DP Strachan, CM van Duijn, IM Heid, KL Mohlke, J Marchini, RJF Loos, TO Kilpeläinen, CT Liu, IB Borecki, KE North, LA Cupples
Publication Date: 2017-04-26

Variant appearance in text: rs8049439
PubMed Link: 28443625
Variant Present in the following documents:
  • ncomms14977-s2.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: rs8049439
PubMed Link: 28257690
Variant Present in the following documents:
  • mmc4.xlsx
View BVdb publication page



Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits.

American Journal Of Human Genetics
N Mancuso, H Shi, P Goddard, G Kichaev, A Gusev, B Pasaniuc
Publication Date: 2017-03-02

Variant appearance in text: rs8049439
PubMed Link: 28238358
Variant Present in the following documents:
  • mmc1.pdf
  • mmc13.pdf
View BVdb publication page



Integration of VDR genome wide binding and GWAS genetic variation data reveals co-occurrence of VDR and NF-κB binding that is linked to immune phenotypes.

Bmc Genomics
PK Singh, PR van den Berg, MD Long, A Vreugdenhil, L Grieshober, HM Ochs-Balcom, J Wang, S Delcambre, S Heikkinen, C Carlberg, MJ Campbell, LE Sucheston-Campbell
Publication Date: 2017-02-06

Variant appearance in text: rs8049439
PubMed Link: 28166722
Variant Present in the following documents:
  • 12864_2017_3481_MOESM1_ESM.xlsx
View BVdb publication page



High-Throughput Characterization of Blood Serum Proteomics of IBD Patients with Respect to Aging and Genetic Factors.

Plos Genetics
AF Di Narzo, SE Telesco, C Brodmerkel, C Argmann, LA Peters, K Li, B Kidd, J Dudley, J Cho, EE Schadt, A Kasarskis, R Dobrin, K Hao
Publication Date: 2017-01

Variant appearance in text: rs8049439
PubMed Link: 28129359
Variant Present in the following documents:
  • pgen.1006565.s017.xlsx
View BVdb publication page



Selection against variants in the genome associated with educational attainment.

Proceedings Of The National Academy Of Sciences Of The United States Of America
A Kong, ML Frigge, G Thorleifsson, H Stefansson, AI Young, F Zink, GA Jonsdottir, A Okbay, P Sulem, G Masson, DF Gudbjartsson, A Helgason, G Bjornsdottir, U Thorsteinsdottir, K Stefansson
Publication Date: 2017-01-31

Variant appearance in text: rs8049439
PubMed Link: 28096410
Variant Present in the following documents:
  • Main text
View BVdb publication page



GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.

Molecular Psychiatry
JW Trampush, ML Yang, J Yu, E Knowles, G Davies, DC Liewald, JM Starr, S Djurovic, I Melle, K Sundet, A Christoforou, I Reinvang, P DeRosse, AJ Lundervold, VM Steen, T Espeseth, K Räikkönen, E Widen, A Palotie, JG Eriksson, I Giegling, B Konte, P Roussos, S Giakoumaki, KE Burdick, A Payton, W Ollier, M Horan, O Chiba-Falek, DK Attix, AC Need, ET Cirulli, AN Voineskos, NC Stefanis, D Avramopoulos, A Hatzimanolis, DE Arking, N Smyrnis, RM Bilder, NA Freimer, TD Cannon, E London, RA Poldrack, FW Sabb, E Congdon, ED Conley, MA Scult, D Dickinson, RE Straub, G Donohoe, D Morris, A Corvin, M Gill, AR Hariri, DR Weinberger, N Pendleton, P Bitsios, D Rujescu, J Lahti, S Le Hellard, MC Keller, OA Andreassen, IJ Deary, DC Glahn, AK Malhotra, T Lencz
Publication Date: 2017-03

Variant appearance in text: rs8049439
PubMed Link: 28093568
Variant Present in the following documents:
  • mp2016244x2.xlsx
View BVdb publication page



SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.

Journal Of The American Society Of Nephrology : Jasn
M Li, Y Li, O Weeks, V Mijatovic, A Teumer, JE Huffman, G Tromp, C Fuchsberger, M Gorski, LP Lyytikäinen, T Nutile, S Sedaghat, R Sorice, A Tin, Q Yang, TS Ahluwalia, DE Arking, NA Bihlmeyer, CA Böger, RJ Carroll, DI Chasman, MC Cornelis, A Dehghan, JD Faul, MF Feitosa, G Gambaro, P Gasparini, F Giulianini, I Heid, J Huang, M Imboden, AU Jackson, J Jeff, MA Jhun, R Katz, A Kifley, TO Kilpeläinen, A Kumar, M Laakso, R Li-Gao, K Lohman, Y Lu, R Mägi, G Malerba, E Mihailov, KL Mohlke, DO Mook-Kanamori, A Robino, D Ruderfer, E Salvi, UM Schick, CA Schulz, AV Smith, JA Smith, M Traglia, LM Yerges-Armstrong, W Zhao, MO Goodarzi, AT Kraja, C Liu, J Wessel, , , E Boerwinkle, IB Borecki, J Bork-Jensen, EP Bottinger, D Braga, I Brandslund, JA Brody, A Campbell, DJ Carey, C Christensen, J Coresh, E Crook, GC Curhan, D Cusi, IH de Boer, AP de Vries, JC Denny, O Devuyst, AW Dreisbach, K Endlich, T Esko, OH Franco, T Fulop, GS Gerhard, C Glümer, O Gottesman, N Grarup, V Gudnason, T Hansen, TB Harris, C Hayward, L Hocking, A Hofman, FB Hu, LL Husemoen, RD Jackson, T Jørgensen, ME Jørgensen, M Kähönen, SL Kardia, W König, C Kooperberg, J Kriebel, LJ Launer, T Lauritzen, T Lehtimäki, D Levy, P Linksted, A Linneberg, Y Liu, RJ Loos, A Lupo, C Meisinger, O Melander, A Metspalu, P Mitchell, M Nauck, P Nürnberg, M Orho-Melander, A Parsa, O Pedersen, A Peters, U Peters, O Polasek, D Porteous, NM Probst-Hensch, BM Psaty, L Qi, OT Raitakari, AP Reiner, R Rettig, PM Ridker, F Rivadeneira, JE Rossouw, F Schmidt, D Siscovick, N Soranzo, K Strauch, D Toniolo, ST Turner, AG Uitterlinden, S Ulivi, D Velayutham, U Völker, H Völzke, M Waldenberger, JJ Wang, DR Weir, D Witte, H Kuivaniemi, CS Fox, N Franceschini, W Goessling, A Köttgen, AY Chu
Publication Date: 2017-03

Variant appearance in text: rs8049439
PubMed Link: 27920155
Variant Present in the following documents:
  • Main text
View BVdb publication page



A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.

Nature Communications
JS Ried, J Jeff M, AY Chu, JL Bragg-Gresham, J van Dongen, JE Huffman, TS Ahluwalia, G Cadby, N Eklund, J Eriksson, T Esko, MF Feitosa, A Goel, M Gorski, C Hayward, NL Heard-Costa, AU Jackson, E Jokinen, S Kanoni, K Kristiansson, Z Kutalik, J Lahti, J Luan, R Mägi, A Mahajan, M Mangino, C Medina-Gomez, KL Monda, IM Nolte, L Pérusse, I Prokopenko, L Qi, LM Rose, E Salvi, MT Smith, H Snieder, A Stančáková, Y Ju Sung, I Tachmazidou, A Teumer, G Thorleifsson, P van der Harst, RW Walker, SR Wang, SH Wild, SM Willems, A Wong, W Zhang, E Albrecht, A Couto Alves, SJ Bakker, C Barlassina, TM Bartz, J Beilby, C Bellis, RN Bergman, S Bergmann, J Blangero, M Blüher, E Boerwinkle, LL Bonnycastle, SR Bornstein, M Bruinenberg, H Campbell, YI Chen, CW Chiang, PS Chines, FS Collins, F Cucca, LA Cupples, F D'Avila, EJ de Geus, G Dedoussis, M Dimitriou, A Döring, JG Eriksson, AE Farmaki, M Farrall, T Ferreira, K Fischer, NG Forouhi, N Friedrich, AP Gjesing, N Glorioso, M Graff, H Grallert, N Grarup, J Gräßler, J Grewal, A Hamsten, MN Harder, CA Hartman, M Hassinen, N Hastie, AT Hattersley, AS Havulinna, M Heliövaara, H Hillege, A Hofman, O Holmen, G Homuth, JJ Hottenga, J Hui, LL Husemoen, PG Hysi, A Isaacs, T Ittermann, S Jalilzadeh, AL James, T Jørgensen, P Jousilahti, A Jula, J Marie Justesen, AE Justice, M Kähönen, M Karaleftheri, K Tee Khaw, SM Keinanen-Kiukaanniemi, L Kinnunen, PB Knekt, HA Koistinen, I Kolcic, IK Kooner, S Koskinen, P Kovacs, T Kyriakou, T Laitinen, C Langenberg, AM Lewin, P Lichtner, CM Lindgren, J Lindström, A Linneberg, R Lorbeer, M Lorentzon, R Luben, V Lyssenko, S Männistö, P Manunta, IM Leach, WL McArdle, B Mcknight, KL Mohlke, E Mihailov, L Milani, R Mills, ME Montasser, AP Morris, G Müller, AW Musk, N Narisu, KK Ong, BA Oostra, C Osmond, A Palotie, JS Pankow, L Paternoster, BW Penninx, I Pichler, MG Pilia, O Polašek, PP Pramstaller, OT Raitakari, T Rankinen, DC Rao, NW Rayner, R Ribel-Madsen, TK Rice, M Richards, PM Ridker, F Rivadeneira, KA Ryan, S Sanna, MA Sarzynski, S Scholtens, RA Scott, S Sebert, L Southam, TH Sparsø, V Steinthorsdottir, K Stirrups, RP Stolk, K Strauch, HM Stringham, MA Swertz, AJ Swift, A Tönjes, E Tsafantakis, PJ van der Most, JV Van Vliet-Ostaptchouk, L Vandenput, E Vartiainen, C Venturini, N Verweij, JS Viikari, V Vitart, MC Vohl, JM Vonk, G Waeber, E Widén, G Willemsen, T Wilsgaard, TW Winkler, AF Wright, LM Yerges-Armstrong, J Hua Zhao, MC Zillikens, DI Boomsma, C Bouchard, JC Chambers, DI Chasman, D Cusi, RT Gansevoort, C Gieger, T Hansen, AA Hicks, F Hu, K Hveem, MR Jarvelin, E Kajantie, JS Kooner, D Kuh, J Kuusisto, M Laakso, TA Lakka, T Lehtimäki, A Metspalu, I Njølstad, C Ohlsson, AJ Oldehinkel, LJ Palmer, O Pedersen, M Perola, A Peters, BM Psaty, H Puolijoki, R Rauramaa, I Rudan, V Salomaa, PE Schwarz, AR Shudiner, JH Smit, TI Sørensen, TD Spector, K Stefansson, M Stumvoll, A Tremblay, J Tuomilehto, AG Uitterlinden, M Uusitupa, U Völker, P Vollenweider, NJ Wareham, H Watkins, JF Wilson, E Zeggini, GR Abecasis, M Boehnke, IB Borecki, P Deloukas, CM van Duijn, C Fox, LC Groop, IM Heid, DJ Hunter, RC Kaplan, MI McCarthy, KE North, JR O'Connell, D Schlessinger, U Thorsteinsdottir, DP Strachan, T Frayling, JN Hirschhorn, M Müller-Nurasyid, RJ Loos
Publication Date: 2016-11-23

Variant appearance in text: rs8049439
PubMed Link: 27876822
Variant Present in the following documents:
  • ncomms13357-s3.xls
View BVdb publication page



Multivariate Analysis of Anthropometric Traits Using Summary Statistics of Genome-Wide Association Studies from GIANT Consortium.

Plos One
H Park, X Li, YE Song, KY He, X Zhu
Publication Date: 2016

Variant appearance in text: rs8049439
PubMed Link: 27701450
Variant Present in the following documents:
  • pone.0163912.s005.xlsx
View BVdb publication page



Predicting gene targets from integrative analyses of summary data from GWAS and eQTL studies for 28 human complex traits.

Genome Medicine
JM Pavlides, Z Zhu, J Gratten, AF McRae, NR Wray, J Yang
Publication Date: 2016-08-09

Variant appearance in text: rs8049439
PubMed Link: 27506385
Variant Present in the following documents:
  • 13073_2016_338_MOESM1_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases.

Alimentary Pharmacology & Therapeutics
S Bek, JV Nielsen, AB Bojesen, A Franke, S Bank, U Vogel, V Andersen
Publication Date: 2016-09

Variant appearance in text: rs8049439
PubMed Link: 27417569
Variant Present in the following documents:
  • Main text
View BVdb publication page



Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.

Clinical And Translational Gastroenterology
AF Di Narzo, LA Peters, C Argmann, A Stojmirovic, J Perrigoue, K Li, S Telesco, B Kidd, J Walker, J Dudley, J Cho, EE Schadt, A Kasarskis, M Curran, R Dobrin, K Hao
Publication Date: 2016-06-23

Variant appearance in text: rs8049439
PubMed Link: 27336838
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Genome-Wide mQTL Analysis in Human Adipose Tissue Identifies Genetic Variants Associated with DNA Methylation, Gene Expression and Metabolic Traits.

Plos One
P Volkov, AH Olsson, L Gillberg, SW Jørgensen, C Brøns, KF Eriksson, L Groop, PA Jansson, E Nilsson, T Rönn, A Vaag, C Ling
Publication Date: 2016

Variant appearance in text: rs8049439
PubMed Link: 27322064
Variant Present in the following documents:
  • pone.0157776.s004.xlsx
View BVdb publication page



Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe.

Genome Medicine
C Blauwendraat, M Francescatto, JR Gibbs, IE Jansen, J Simón-Sánchez, DG Hernandez, AA Dillman, AB Singleton, MR Cookson, P Rizzu, P Heutink
Publication Date: 2016-06-10

Variant appearance in text: rs8049439
PubMed Link: 27287230
Variant Present in the following documents:
  • 13073_2016_320_MOESM8_ESM.xlsx
View BVdb publication page



Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease.

Plos Genetics
JE Peters, PA Lyons, JC Lee, AC Richard, MD Fortune, PJ Newcombe, S Richardson, KG Smith
Publication Date: 2016-03

Variant appearance in text: rs8049439
PubMed Link: 27015630
Variant Present in the following documents:
  • Main text
View BVdb publication page



New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.

Nature Communications
Y Lu, FR Day, S Gustafsson, ML Buchkovich, J Na, V Bataille, DL Cousminer, Z Dastani, AW Drong, T Esko, DM Evans, M Falchi, MF Feitosa, T Ferreira, ÅK Hedman, R Haring, PG Hysi, MM Iles, AE Justice, S Kanoni, V Lagou, R Li, X Li, A Locke, C Lu, R Mägi, JR Perry, TH Pers, Q Qi, M Sanna, EM Schmidt, WR Scott, D Shungin, A Teumer, AA Vinkhuyzen, RW Walker, HJ Westra, M Zhang, W Zhang, JH Zhao, Z Zhu, U Afzal, TS Ahluwalia, SJ Bakker, C Bellis, A Bonnefond, K Borodulin, AS Buchman, T Cederholm, AC Choh, HJ Choi, JE Curran, LC de Groot, PL De Jager, RA Dhonukshe-Rutten, AW Enneman, E Eury, DS Evans, T Forsen, N Friedrich, F Fumeron, ME Garcia, S Gärtner, BG Han, AS Havulinna, C Hayward, D Hernandez, H Hillege, T Ittermann, JW Kent, I Kolcic, T Laatikainen, J Lahti, I Mateo Leach, CG Lee, JY Lee, T Liu, Y Liu, S Lobbens, M Loh, LP Lyytikäinen, C Medina-Gomez, K Michaëlsson, MA Nalls, CM Nielson, L Oozageer, L Pascoe, L Paternoster, O Polašek, S Ripatti, MA Sarzynski, CS Shin, NS Narančić, D Spira, P Srikanth, E Steinhagen-Thiessen, YJ Sung, KM Swart, L Taittonen, T Tanaka, E Tikkanen, N van der Velde, NM van Schoor, N Verweij, AF Wright, L Yu, JM Zmuda, N Eklund, T Forrester, N Grarup, AU Jackson, K Kristiansson, T Kuulasmaa, J Kuusisto, P Lichtner, J Luan, A Mahajan, S Männistö, CD Palmer, JS Ried, RA Scott, A Stancáková, PJ Wagner, A Demirkan, A Döring, V Gudnason, DP Kiel, B Kühnel, M Mangino, B Mcknight, C Menni, JR O'Connell, BA Oostra, AR Shuldiner, K Song, L Vandenput, CM van Duijn, P Vollenweider, CC White, M Boehnke, Y Boettcher, RS Cooper, NG Forouhi, C Gieger, H Grallert, A Hingorani, T Jørgensen, P Jousilahti, M Kivimaki, M Kumari, M Laakso, C Langenberg, A Linneberg, A Luke, CA Mckenzie, A Palotie, O Pedersen, A Peters, K Strauch, BO Tayo, NJ Wareham, DA Bennett, L Bertram, J Blangero, M Blüher, C Bouchard, H Campbell, NH Cho, SR Cummings, SA Czerwinski, I Demuth, R Eckardt, JG Eriksson, L Ferrucci, OH Franco, P Froguel, RT Gansevoort, T Hansen, TB Harris, N Hastie, M Heliövaara, A Hofman, JM Jordan, A Jula, M Kähönen, E Kajantie, PB Knekt, S Koskinen, P Kovacs, T Lehtimäki, L Lind, Y Liu, ES Orwoll, C Osmond, M Perola, L Pérusse, OT Raitakari, T Rankinen, DC Rao, TK Rice, F Rivadeneira, I Rudan, V Salomaa, TI Sørensen, M Stumvoll, A Tönjes, B Towne, GJ Tranah, A Tremblay, AG Uitterlinden, P van der Harst, E Vartiainen, JS Viikari, V Vitart, MC Vohl, H Völzke, M Walker, H Wallaschofski, S Wild, JF Wilson, L Yengo, DT Bishop, IB Borecki, JC Chambers, LA Cupples, A Dehghan, P Deloukas, G Fatemifar, C Fox, TS Furey, L Franke, J Han, DJ Hunter, J Karjalainen, F Karpe, RC Kaplan, JS Kooner, MI McCarthy, JM Murabito, AP Morris, JA Bishop, KE North, C Ohlsson, KK Ong, I Prokopenko, JB Richards, EE Schadt, TD Spector, E Widén, CJ Willer, J Yang, E Ingelsson, KL Mohlke, JN Hirschhorn, JA Pospisilik, MC Zillikens, C Lindgren, TO Kilpeläinen, RJ Loos
Publication Date: 2016-02-01

Variant appearance in text: rs8049439
PubMed Link: 26833246
Variant Present in the following documents:
  • ncomms10495-s1.pdf
View BVdb publication page



Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

Nature Medicine
YR Li, J Li, SD Zhao, JP Bradfield, FD Mentch, SM Maggadottir, C Hou, DJ Abrams, D Chang, F Gao, Y Guo, Z Wei, JJ Connolly, CJ Cardinale, M Bakay, JT Glessner, D Li, C Kao, KA Thomas, H Qiu, RM Chiavacci, CE Kim, F Wang, J Snyder, MD Richie, B Flatø, Ø Førre, LA Denson, SD Thompson, ML Becker, SL Guthery, A Latiano, E Perez, E Resnick, RK Russell, DC Wilson, MS Silverberg, V Annese, BA Lie, M Punaro, MC Dubinsky, DS Monos, C Strisciuglio, A Staiano, E Miele, S Kugathasan, JA Ellis, JE Munro, KE Sullivan, CA Wise, H Chapel, C Cunningham-Rundles, SF Grant, JS Orange, PM Sleiman, EM Behrens, AM Griffiths, J Satsangi, TH Finkel, A Keinan, ET Prak, C Polychronakos, RN Baldassano, H Li, BJ Keating, H Hakonarson
Publication Date: 2015-09

Variant appearance in text: rs8049439
PubMed Link: 26301688
Variant Present in the following documents:
  • NIHMS781349-supplement-Supplemental.pdf
View BVdb publication page



Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications
AK Andiappan, R Melchiotti, TY Poh, M Nah, KJ Puan, E Vigano, D Haase, N Yusof, B San Luis, J Lum, D Kumar, S Foo, L Zhuang, A Vasudev, A Irwanto, B Lee, A Nardin, H Liu, F Zhang, J Connolly, J Liu, A Mortellaro, Y Wang, M Poidinger, A Larbi, F Zolezzi, O Rotzschke
Publication Date: 2015-08-10

Variant appearance in text: rs8049439
PubMed Link: 26259071
Variant Present in the following documents:
  • ncomms8971-s1.pdf
  • ncomms8971-s3.xlsx
View BVdb publication page



A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence.

Molecular Psychiatry
SL Spain, I Pedroso, N Kadeva, MB Miller, WG Iacono, M McGue, E Stergiakouli, G Davey Smith, M Putallaz, D Lubinski, EL Meaburn, R Plomin, MA Simpson
Publication Date: 2016-08

Variant appearance in text: rs8049439
PubMed Link: 26239293
Variant Present in the following documents:
  • mp2015108x1.doc
View BVdb publication page



Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis.

Spine Deformity
EE Baschal, K Swindle, CM Justice, RM Baschal, A Perera, CI Wethey, A Poole, O Pourquié, O Tassy, NH Miller
Publication Date: 2015-07

Variant appearance in text: rs8049439
PubMed Link: 26120555
Variant Present in the following documents:
  • NIHMS695381-supplement-3.xls
View BVdb publication page



Genetic studies of body mass index yield new insights for obesity biology.

Nature
AE Locke, B Kahali, SI Berndt, AE Justice, TH Pers, FR Day, C Powell, S Vedantam, ML Buchkovich, J Yang, DC Croteau-Chonka, T Esko, T Fall, T Ferreira, S Gustafsson, Z Kutalik, J Luan, R Mägi, JC Randall, TW Winkler, AR Wood, T Workalemahu, JD Faul, JA Smith, JH Zhao, W Zhao, J Chen, R Fehrmann, ÅK Hedman, J Karjalainen, EM Schmidt, D Absher, N Amin, D Anderson, M Beekman, JL Bolton, JL Bragg-Gresham, S Buyske, A Demirkan, G Deng, GB Ehret, B Feenstra, MF Feitosa, K Fischer, A Goel, J Gong, AU Jackson, S Kanoni, ME Kleber, K Kristiansson, U Lim, V Lotay, M Mangino, IM Leach, C Medina-Gomez, SE Medland, MA Nalls, CD Palmer, D Pasko, S Pechlivanis, MJ Peters, I Prokopenko, D Shungin, A Stančáková, RJ Strawbridge, YJ Sung, T Tanaka, A Teumer, S Trompet, SW van der Laan, J van Setten, JV Van Vliet-Ostaptchouk, Z Wang, L Yengo, W Zhang, A Isaacs, E Albrecht, J Ärnlöv, GM Arscott, AP Attwood, S Bandinelli, A Barrett, IN Bas, C Bellis, AJ Bennett, C Berne, R Blagieva, M Blüher, S Böhringer, LL Bonnycastle, Y Böttcher, HA Boyd, M Bruinenberg, IH Caspersen, YI Chen, R Clarke, EW Daw, AJM de Craen, G Delgado, M Dimitriou, ASF Doney, N Eklund, K Estrada, E Eury, L Folkersen, RM Fraser, ME Garcia, F Geller, V Giedraitis, B Gigante, AS Go, A Golay, AH Goodall, SD Gordon, M Gorski, HJ Grabe, H Grallert, TB Grammer, J Gräßler, H Grönberg, CJ Groves, G Gusto, J Haessler, P Hall, T Haller, G Hallmans, CA Hartman, M Hassinen, C Hayward, NL Heard-Costa, Q Helmer, C Hengstenberg, O Holmen, JJ Hottenga, AL James, JM Jeff, Å Johansson, J Jolley, T Juliusdottir, L Kinnunen, W Koenig, M Koskenvuo, W Kratzer, J Laitinen, C Lamina, K Leander, NR Lee, P Lichtner, L Lind, J Lindström, KS Lo, S Lobbens, R Lorbeer, Y Lu, F Mach, PKE Magnusson, A Mahajan, WL McArdle, S McLachlan, C Menni, S Merger, E Mihailov, L Milani, A Moayyeri, KL Monda, MA Morken, A Mulas, G Müller, M Müller-Nurasyid, AW Musk, R Nagaraja, MM Nöthen, IM Nolte, S Pilz, NW Rayner, F Renstrom, R Rettig, JS Ried, S Ripke, NR Robertson, LM Rose, S Sanna, H Scharnagl, S Scholtens, FR Schumacher, WR Scott, T Seufferlein, J Shi, AV Smith, J Smolonska, AV Stanton, V Steinthorsdottir, K Stirrups, HM Stringham, J Sundström, MA Swertz, AJ Swift, AC Syvänen, ST Tan, BO Tayo, B Thorand, G Thorleifsson, JP Tyrer, HW Uh, L Vandenput, FC Verhulst, SH Vermeulen, N Verweij, JM Vonk, LL Waite, HR Warren, D Waterworth, MN Weedon, LR Wilkens, C Willenborg, T Wilsgaard, MK Wojczynski, A Wong, AF Wright, Q Zhang, , EP Brennan, M Choi, Z Dastani, AW Drong, P Eriksson, A Franco-Cereceda, JR Gådin, AG Gharavi, ME Goddard, RE Handsaker, J Huang, F Karpe, S Kathiresan, S Keildson, K Kiryluk, M Kubo, JY Lee, L Liang, RP Lifton, B Ma, SA McCarroll, AJ McKnight, JL Min, MF Moffatt, GW Montgomery, JM Murabito, G Nicholson, DR Nyholt, Y Okada, JRB Perry, R Dorajoo, E Reinmaa, RM Salem, N Sandholm, RA Scott, L Stolk, A Takahashi, T Tanaka, FM van 't Hooft, AAE Vinkhuyzen, HJ Westra, W Zheng, KT Zondervan, , , , , , , , , , , , , , AC Heath, D Arveiler, SJL Bakker, J Beilby, RN Bergman, J Blangero, P Bovet, H Campbell, MJ Caulfield, G Cesana, A Chakravarti, DI Chasman, PS Chines, FS Collins, DC Crawford, LA Cupples, D Cusi, J Danesh, U de Faire, HM den Ruijter, AF Dominiczak, R Erbel, J Erdmann, JG Eriksson, M Farrall, SB Felix, E Ferrannini, J Ferrières, I Ford, NG Forouhi, T Forrester, OH Franco, RT Gansevoort, PV Gejman, C Gieger, O Gottesman, V Gudnason, U Gyllensten, AS Hall, TB Harris, AT Hattersley, AA Hicks, LA Hindorff, AD Hingorani, A Hofman, G Homuth, GK Hovingh, SE Humphries, SC Hunt, E Hyppönen, T Illig, KB Jacobs, MR Jarvelin, KH Jöckel, B Johansen, P Jousilahti, JW Jukema, AM Jula, J Kaprio, JJP Kastelein, SM Keinanen-Kiukaanniemi, LA Kiemeney, P Knekt, JS Kooner, C Kooperberg, P Kovacs, AT Kraja, M Kumari, J Kuusisto, TA Lakka, C Langenberg, LL Marchand, T Lehtimäki, V Lyssenko, S Männistö, A Marette, TC Matise, CA McKenzie, B McKnight, FL Moll, AD Morris, AP Morris, JC Murray, M Nelis, C Ohlsson, AJ Oldehinkel, KK Ong, PAF Madden, G Pasterkamp, JF Peden, A Peters, DS Postma, PP Pramstaller, JF Price, L Qi, OT Raitakari, T Rankinen, DC Rao, TK Rice, PM Ridker, JD Rioux, MD Ritchie, I Rudan, V Salomaa, NJ Samani, J Saramies, MA Sarzynski, H Schunkert, PEH Schwarz, P Sever, AR Shuldiner, J Sinisalo, RP Stolk, K Strauch, A Tönjes, DA Trégouët, A Tremblay, E Tremoli, J Virtamo, MC Vohl, U Völker, G Waeber, G Willemsen, JC Witteman, MC Zillikens, LS Adair, P Amouyel, FW Asselbergs, TL Assimes, M Bochud, BO Boehm, E Boerwinkle, SR Bornstein, EP Bottinger, C Bouchard, S Cauchi, JC Chambers, SJ Chanock, RS Cooper, PIW de Bakker, G Dedoussis, L Ferrucci, PW Franks, P Froguel, LC Groop, CA Haiman, A Hamsten, J Hui, DJ Hunter, K Hveem, RC Kaplan, M Kivimaki, D Kuh, M Laakso, Y Liu, NG Martin, W März, M Melbye, A Metspalu, S Moebus, PB Munroe, I Njølstad, BA Oostra, CNA Palmer, NL Pedersen, M Perola, L Pérusse, U Peters, C Power, T Quertermous, R Rauramaa, F Rivadeneira, TE Saaristo, D Saleheen, N Sattar, EE Schadt, D Schlessinger, PE Slagboom, H Snieder, TD Spector, U Thorsteinsdottir, M Stumvoll, J Tuomilehto, AG Uitterlinden, M Uusitupa, P van der Harst, M Walker, H Wallaschofski, NJ Wareham, H Watkins, DR Weir, HE Wichmann, JF Wilson, P Zanen, IB Borecki, P Deloukas, CS Fox, IM Heid, JR O'Connell, DP Strachan, K Stefansson, CM van Duijn, GR Abecasis, L Franke, TM Frayling, MI McCarthy, PM Visscher, A Scherag, CJ Willer, M Boehnke, KL Mohlke, CM Lindgren, JS Beckmann, I Barroso, KE North, E Ingelsson, JN Hirschhorn, RJF Loos, EK Speliotes
Publication Date: 2015-02-12

Variant appearance in text: rs8049439
PubMed Link: 25673413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

Molecular Psychiatry
G Davies, N Armstrong, JC Bis, J Bressler, V Chouraki, S Giddaluru, E Hofer, CA Ibrahim-Verbaas, M Kirin, J Lahti, SJ van der Lee, S Le Hellard, T Liu, RE Marioni, C Oldmeadow, I Postmus, AV Smith, JA Smith, A Thalamuthu, R Thomson, V Vitart, J Wang, L Yu, L Zgaga, W Zhao, R Boxall, SE Harris, WD Hill, DC Liewald, M Luciano, H Adams, D Ames, N Amin, P Amouyel, AA Assareh, R Au, JT Becker, A Beiser, C Berr, L Bertram, E Boerwinkle, BM Buckley, H Campbell, J Corley, PL De Jager, C Dufouil, JG Eriksson, T Espeseth, JD Faul, I Ford, , RF Gottesman, ME Griswold, V Gudnason, TB Harris, G Heiss, A Hofman, EG Holliday, J Huffman, SL Kardia, N Kochan, DS Knopman, JB Kwok, JC Lambert, T Lee, G Li, SC Li, M Loitfelder, OL Lopez, AJ Lundervold, A Lundqvist, KA Mather, SS Mirza, L Nyberg, BA Oostra, A Palotie, G Papenberg, A Pattie, K Petrovic, O Polasek, BM Psaty, P Redmond, S Reppermund, JI Rotter, H Schmidt, M Schuur, PW Schofield, RJ Scott, VM Steen, DJ Stott, JC van Swieten, KD Taylor, J Trollor, S Trompet, AG Uitterlinden, G Weinstein, E Widen, BG Windham, JW Jukema, AF Wright, MJ Wright, Q Yang, H Amieva, JR Attia, DA Bennett, H Brodaty, AJ de Craen, C Hayward, MA Ikram, U Lindenberger, LG Nilsson, DJ Porteous, K Räikkönen, I Reinvang, I Rudan, PS Sachdev, R Schmidt, PR Schofield, V Srikanth, JM Starr, ST Turner, DR Weir, JF Wilson, C van Duijn, L Launer, AL Fitzpatrick, S Seshadri, TH Mosley, IJ Deary
Publication Date: 2015-02

Variant appearance in text: rs8049439
PubMed Link: 25644384
Variant Present in the following documents:
  • mp2014188x6.xlsx
View BVdb publication page



Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.

Proceedings Of The National Academy Of Sciences Of The United States Of America
CA Rietveld, T Esko, G Davies, TH Pers, P Turley, B Benyamin, CF Chabris, V Emilsson, AD Johnson, JJ Lee, C de Leeuw, RE Marioni, SE Medland, MB Miller, O Rostapshova, SJ van der Lee, AA Vinkhuyzen, N Amin, D Conley, J Derringer, CM van Duijn, R Fehrmann, L Franke, EL Glaeser, NK Hansell, C Hayward, WG Iacono, C Ibrahim-Verbaas, V Jaddoe, J Karjalainen, D Laibson, P Lichtenstein, DC Liewald, PK Magnusson, NG Martin, M McGue, G McMahon, NL Pedersen, S Pinker, DJ Porteous, D Posthuma, F Rivadeneira, BH Smith, JM Starr, H Tiemeier, NJ Timpson, M Trzaskowski, AG Uitterlinden, FC Verhulst, ME Ward, MJ Wright, G Davey Smith, IJ Deary, M Johannesson, R Plomin, PM Visscher, DJ Benjamin, D Cesarini, PD Koellinger
Publication Date: 2014-09-23

Variant appearance in text: rs8049439
PubMed Link: 25201988
Variant Present in the following documents:
  • pnas.1404623111.sapp.pdf
View BVdb publication page



Obesity gene NEGR1 associated with white matter integrity in healthy young adults.

Neuroimage
EL Dennis, N Jahanshad, MN Braskie, NM Warstadt, DP Hibar, O Kohannim, TM Nir, KL McMahon, GI de Zubicaray, GW Montgomery, NG Martin, AW Toga, MJ Wright, PM Thompson
Publication Date: 2014-11-15

Variant appearance in text: rs8049439
PubMed Link: 25072390
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cis and trans effects of human genomic variants on gene expression.

Plos Genetics
J Bryois, A Buil, DM Evans, JP Kemp, SB Montgomery, DF Conrad, KM Ho, S Ring, M Hurles, P Deloukas, G Davey Smith, ET Dermitzakis
Publication Date: 2014-07

Variant appearance in text: rs8049439
PubMed Link: 25010687
Variant Present in the following documents:
  • pgen.1004461.s012.xlsx
View BVdb publication page



Regulation of gene expression in autoimmune disease loci and the genetic basis of proliferation in CD4+ effector memory T cells.

Plos Genetics
X Hu, H Kim, T Raj, PJ Brennan, G Trynka, N Teslovich, K Slowikowski, WM Chen, S Onengut, C Baecher-Allan, PL De Jager, SS Rich, BE Stranger, MB Brenner, S Raychaudhuri
Publication Date: 2014-06

Variant appearance in text: rs8049439
PubMed Link: 24968232
Variant Present in the following documents:
  • pgen.1004404.s011.xlsx
View BVdb publication page



Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants.

Plos One
M Narahara, K Higasa, S Nakamura, Y Tabara, T Kawaguchi, M Ishii, K Matsubara, F Matsuda, R Yamada
Publication Date: 2014

Variant appearance in text: rs8049439
PubMed Link: 24956270
Variant Present in the following documents:
  • pone.0100924.s011.xlsx
View BVdb publication page



Mapping the genetic architecture of gene regulation in whole blood.

Plos One
K Schramm, C Marzi, C Schurmann, M Carstensen, E Reinmaa, R Biffar, G Eckstein, C Gieger, HJ Grabe, G Homuth, G Kastenmüller, R Mägi, A Metspalu, E Mihailov, A Peters, A Petersmann, M Roden, K Strauch, K Suhre, A Teumer, U Völker, H Völzke, R Wang-Sattler, M Waldenberger, T Meitinger, T Illig, C Herder, H Grallert, H Prokisch
Publication Date: 2014

Variant appearance in text: rs8049439
PubMed Link: 24740359
Variant Present in the following documents:
  • pone.0093844.s005.xls
View BVdb publication page



Interleukin and interleukin receptor gene polymorphisms in inflammatory bowel diseases susceptibility.

World Journal Of Gastroenterology
L Magyari, E Kovesdi, P Sarlos, A Javorhazy, K Sumegi, B Melegh
Publication Date: 2014-03-28

Variant appearance in text: rs8049439
PubMed Link: 24695754
Variant Present in the following documents:
  • Main text
View BVdb publication page



A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.

American Journal Of Human Genetics
JR González, A Cáceres, T Esko, I Cuscó, M Puig, M Esnaola, J Reina, V Siroux, E Bouzigon, R Nadif, E Reinmaa, L Milani, M Bustamante, D Jarvis, JM Antó, J Sunyer, F Demenais, M Kogevinas, A Metspalu, M Cáceres, LA Pérez-Jurado
Publication Date: 2014-03-06

Variant appearance in text: rs8049439
PubMed Link: 24560518
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Nature Biotechnology
JC Denny, L Bastarache, MD Ritchie, RJ Carroll, R Zink, JD Mosley, JR Field, JM Pulley, AH Ramirez, E Bowton, MA Basford, DS Carrell, PL Peissig, AN Kho, JA Pacheco, LV Rasmussen, DR Crosslin, PK Crane, J Pathak, SJ Bielinski, SA Pendergrass, H Xu, LA Hindorff, R Li, TA Manolio, CG Chute, RL Chisholm, EB Larson, GP Jarvik, MH Brilliant, CA McCarty, IJ Kullo, JL Haines, DC Crawford, DR Masys, DM Roden
Publication Date: 2013-12

Variant appearance in text: rs8049439
PubMed Link: 24270849
Variant Present in the following documents:
  • NIHMS561785-supplement-supplementary_data.pdf
View BVdb publication page



The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts.

Bmc Genomics
FS Morrison, JM Locke, AR Wood, M Tuke, D Pasko, A Murray, T Frayling, LW Harries
Publication Date: 2013-09-17

Variant appearance in text: rs8049439
PubMed Link: 24044605
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders.

Arthritis And Rheumatism
FW Miller, RG Cooper, J Vencovský, LG Rider, K Danko, LR Wedderburn, IE Lundberg, LM Pachman, AM Reed, SR Ytterberg, L Padyukov, A Selva-O'Callaghan, TR Radstake, DA Isenberg, H Chinoy, WE Ollier, TP O'Hanlon, B Peng, A Lee, JA Lamb, W Chen, CI Amos, PK Gregersen,
Publication Date: 2013-12

Variant appearance in text: rs8049439
PubMed Link: 23983088
Variant Present in the following documents:
  • NIHMS525308-supplement-01.pdf
View BVdb publication page



Generalization of adiposity genetic loci to US Hispanic women.

Nutrition & Diabetes
M Graff, L Fernández-Rhodes, S Liu, C Carlson, S Wassertheil-Smoller, M Neuhouser, A Reiner, C Kooperberg, E Rampersaud, JE Manson, LH Kuller, BV Howard, HM Ochs-Balcom, KC Johnson, MZ Vitolins, L Sucheston, K Monda, KE North
Publication Date: 2013-08-26

Variant appearance in text: rs8049439
PubMed Link: 23978819
Variant Present in the following documents:
  • Main text
View BVdb publication page



DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts.

Plos Genetics
DV Zhernakova, E de Klerk, HJ Westra, A Mastrokolias, S Amini, Y Ariyurek, R Jansen, BW Penninx, JJ Hottenga, G Willemsen, EJ de Geus, DI Boomsma, JH Veldink, LH van den Berg, C Wijmenga, JT den Dunnen, GJ van Ommen, PA 't Hoen, L Franke
Publication Date: 2013-06

Variant appearance in text: rs8049439
PubMed Link: 23818875
Variant Present in the following documents:
  • pgen.1003594.s005.xls
  • pgen.1003594.s009.xls
View BVdb publication page



GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.

Science (New York, N.Y.)
CA Rietveld, SE Medland, J Derringer, J Yang, T Esko, NW Martin, HJ Westra, K Shakhbazov, A Abdellaoui, A Agrawal, E Albrecht, BZ Alizadeh, N Amin, J Barnard, SE Baumeister, KS Benke, LF Bielak, JA Boatman, PA Boyle, G Davies, C de Leeuw, N Eklund, DS Evans, R Ferhmann, K Fischer, C Gieger, HK Gjessing, S Hägg, JR Harris, C Hayward, C Holzapfel, CA Ibrahim-Verbaas, E Ingelsson, B Jacobsson, PK Joshi, A Jugessur, M Kaakinen, S Kanoni, J Karjalainen, I Kolcic, K Kristiansson, Z Kutalik, J Lahti, SH Lee, P Lin, PA Lind, Y Liu, K Lohman, M Loitfelder, G McMahon, PM Vidal, O Meirelles, L Milani, R Myhre, ML Nuotio, CJ Oldmeadow, KE Petrovic, WJ Peyrot, O Polasek, L Quaye, E Reinmaa, JP Rice, TS Rizzi, H Schmidt, R Schmidt, AV Smith, JA Smith, T Tanaka, A Terracciano, MJ van der Loos, V Vitart, H Völzke, J Wellmann, L Yu, W Zhao, J Allik, JR Attia, S Bandinelli, F Bastardot, J Beauchamp, DA Bennett, K Berger, LJ Bierut, DI Boomsma, U Bültmann, H Campbell, CF Chabris, L Cherkas, MK Chung, F Cucca, M de Andrade, PL De Jager, JE De Neve, IJ Deary, GV Dedoussis, P Deloukas, M Dimitriou, G Eiríksdóttir, MF Elderson, JG Eriksson, DM Evans, JD Faul, L Ferrucci, ME Garcia, H Grönberg, V Guðnason, P Hall, JM Harris, TB Harris, ND Hastie, AC Heath, DG Hernandez, W Hoffmann, A Hofman, R Holle, EG Holliday, JJ Hottenga, WG Iacono, T Illig, MR Järvelin, M Kähönen, J Kaprio, RM Kirkpatrick, M Kowgier, A Latvala, LJ Launer, DA Lawlor, T Lehtimäki, J Li, P Lichtenstein, P Lichtner, DC Liewald, PA Madden, PK Magnusson, TE Mäkinen, M Masala, M McGue, A Metspalu, A Mielck, MB Miller, GW Montgomery, S Mukherjee, DR Nyholt, BA Oostra, LJ Palmer, A Palotie, BW Penninx, M Perola, PA Peyser, M Preisig, K Räikkönen, OT Raitakari, A Realo, SM Ring, S Ripatti, F Rivadeneira, I Rudan, A Rustichini, V Salomaa, AP Sarin, D Schlessinger, RJ Scott, H Snieder, B St Pourcain, JM Starr, JH Sul, I Surakka, R Svento, A Teumer, , H Tiemeier, FJ van Rooij, DR Van Wagoner, E Vartiainen, J Viikari, P Vollenweider, JM Vonk, G Waeber, DR Weir, HE Wichmann, E Widen, G Willemsen, JF Wilson, AF Wright, D Conley, G Davey-Smith, L Franke, PJ Groenen, A Hofman, M Johannesson, SL Kardia, RF Krueger, D Laibson, NG Martin, MN Meyer, D Posthuma, AR Thurik, NJ Timpson, AG Uitterlinden, CM van Duijn, PM Visscher, DJ Benjamin, D Cesarini, PD Koellinger
Publication Date: 2013-06-21

Variant appearance in text: rs8049439
PubMed Link: 23722424
Variant Present in the following documents:
  • Main text
  • NIHMS495960-supplement-Supplementary_Material.pdf
View BVdb publication page



Development and evaluation of a genetic risk score for obesity.

Biodemography And Social Biology
DW Belsky, TE Moffitt, K Sugden, B Williams, R Houts, J McCarthy, A Caspi
Publication Date: 2013

Variant appearance in text: rs8049439
PubMed Link: 23701538
Variant Present in the following documents:
  • NIHMS428973-supplement-Supplement.pdf
View BVdb publication page



Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology
JY Tung, AK Kiefer, M Mullins, U Francke, N Eriksson
Publication Date: 2013-11

Variant appearance in text: rs8049439
PubMed Link: 23633020
Variant Present in the following documents:
  • jid2013196x1.pdf
View BVdb publication page



Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases.

Journal Of The American Medical Informatics Association : Jamia
Y Lee, H Li, J Li, E Rebman, I Achour, KE Regan, ER Gamazon, JL Chen, XH Yang, NJ Cox, YA Lussier
Publication Date: 2013

Variant appearance in text: rs8049439
PubMed Link: 23355459
Variant Present in the following documents:
  • amiajnl-2012-001519-s1.pdf
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: rs8049439
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
View BVdb publication page



New susceptibility loci associated with kidney disease in type 1 diabetes.

Plos Genetics
N Sandholm, RM Salem, AJ McKnight, EP Brennan, C Forsblom, T Isakova, GJ McKay, WW Williams, DM Sadlier, VP Mäkinen, EJ Swan, C Palmer, AP Boright, E Ahlqvist, HA Deshmukh, BJ Keller, H Huang, AJ Ahola, E Fagerholm, D Gordin, V Harjutsalo, B He, O Heikkilä, K Hietala, J Kytö, P Lahermo, M Lehto, R Lithovius, AM Osterholm, M Parkkonen, J Pitkäniemi, M Rosengård-Bärlund, M Saraheimo, C Sarti, J Söderlund, A Soro-Paavonen, A Syreeni, LM Thorn, H Tikkanen, N Tolonen, K Tryggvason, J Tuomilehto, J Wadén, GV Gill, S Prior, C Guiducci, DB Mirel, A Taylor, SM Hosseini, , HH Parving, P Rossing, L Tarnow, C Ladenvall, F Alhenc-Gelas, P Lefebvre, V Rigalleau, R Roussel, DA Tregouet, A Maestroni, S Maestroni, H Falhammar, T Gu, A Möllsten, D Cimponeriu, M Ioana, M Mota, E Mota, C Serafinceanu, M Stavarachi, RL Hanson, RG Nelson, M Kretzler, HM Colhoun, NM Panduru, HF Gu, K Brismar, G Zerbini, S Hadjadj, M Marre, L Groop, M Lajer, SB Bull, D Waggott, AD Paterson, DA Savage, SC Bain, F Martin, JN Hirschhorn, C Godson, JC Florez, PH Groop, AP Maxwell
Publication Date: 2012-09

Variant appearance in text: rs8049439
PubMed Link: 23028342
Variant Present in the following documents:
  • pgen.1002921.s013.doc
View BVdb publication page



Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases.

Bmc Genomics
M Arnold, ML Hartsperger, H Baurecht, E Rodríguez, B Wachinger, A Franke, M Kabesch, J Winkelmann, A Pfeufer, M Romanos, T Illig, HW Mewes, V Stümpflen, S Weidinger
Publication Date: 2012-09-18

Variant appearance in text: rs8049439
PubMed Link: 22988944
Variant Present in the following documents:
  • 1471-2164-13-490-S2.xlsx
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: rs8049439
PubMed Link: 22433082
Variant Present in the following documents:
  • mmc1.xls
View BVdb publication page



Efficient replication of over 180 genetic associations with self-reported medical data.

Plos One
JY Tung, CB Do, DA Hinds, AK Kiefer, JM Macpherson, AB Chowdry, U Francke, BT Naughton, JL Mountain, A Wojcicki, N Eriksson
Publication Date: 2011

Variant appearance in text: rs8049439
PubMed Link: 21858135
Variant Present in the following documents:
  • pone.0023473.s003.docx
  • pone.0023473.s009.docx
View BVdb publication page



Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

Plos Genetics
RS Fehrmann, RC Jansen, JH Veldink, HJ Westra, D Arends, MJ Bonder, J Fu, P Deelen, HJ Groen, A Smolonska, RK Weersma, RM Hofstra, WA Buurman, S Rensen, MG Wolfs, M Platteel, A Zhernakova, CC Elbers, EM Festen, G Trynka, MH Hofker, CG Saris, RA Ophoff, LH van den Berg, DA van Heel, C Wijmenga, GJ Te Meerman, L Franke
Publication Date: 2011-08

Variant appearance in text: rs8049439
PubMed Link: 21829388
Variant Present in the following documents:
  • pgen.1002197.s012.xls
View BVdb publication page



Implication of European-derived adiposity loci in African Americans.

International Journal Of Obesity (2005)
JM Hester, MR Wing, J Li, ND Palmer, J Xu, PJ Hicks, BH Roh, JM Norris, LE Wagenknecht, CD Langefeld, BI Freedman, DW Bowden, MC Ng
Publication Date: 2012-03

Variant appearance in text: rs8049439
PubMed Link: 21750520
Variant Present in the following documents:
  • Main text
  • NIHMS355519-supplement-Supplemental_Tables.doc
View BVdb publication page



Genetics and epigenetics of obesity.

Maturitas
BM Herrera, S Keildson, CM Lindgren
Publication Date: 2011-05

Variant appearance in text: rs8049439
PubMed Link: 21466928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide meta-analysis for severe diabetic retinopathy.

Human Molecular Genetics
MA Grassi, A Tikhomirov, S Ramalingam, JE Below, NJ Cox, DL Nicolae
Publication Date: 2011-06-15

Variant appearance in text: rs8049439
PubMed Link: 21441570
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Nature Genetics
EK Speliotes, CJ Willer, SI Berndt, KL Monda, G Thorleifsson, AU Jackson, H Lango Allen, CM Lindgren, J Luan, R Mägi, JC Randall, S Vedantam, TW Winkler, L Qi, T Workalemahu, IM Heid, V Steinthorsdottir, HM Stringham, MN Weedon, E Wheeler, AR Wood, T Ferreira, RJ Weyant, AV Segrè, K Estrada, L Liang, J Nemesh, JH Park, S Gustafsson, TO Kilpeläinen, J Yang, N Bouatia-Naji, T Esko, MF Feitosa, Z Kutalik, M Mangino, S Raychaudhuri, A Scherag, AV Smith, R Welch, JH Zhao, KK Aben, DM Absher, N Amin, AL Dixon, E Fisher, NL Glazer, ME Goddard, NL Heard-Costa, V Hoesel, JJ Hottenga, A Johansson, T Johnson, S Ketkar, C Lamina, S Li, MF Moffatt, RH Myers, N Narisu, JR Perry, MJ Peters, M Preuss, S Ripatti, F Rivadeneira, C Sandholt, LJ Scott, NJ Timpson, JP Tyrer, S van Wingerden, RM Watanabe, CC White, F Wiklund, C Barlassina, DI Chasman, MN Cooper, JO Jansson, RW Lawrence, N Pellikka, I Prokopenko, J Shi, E Thiering, H Alavere, MT Alibrandi, P Almgren, AM Arnold, T Aspelund, LD Atwood, B Balkau, AJ Balmforth, AJ Bennett, Y Ben-Shlomo, RN Bergman, S Bergmann, H Biebermann, AI Blakemore, T Boes, LL Bonnycastle, SR Bornstein, MJ Brown, TA Buchanan, F Busonero, H Campbell, FP Cappuccio, C Cavalcanti-Proença, YD Chen, CM Chen, PS Chines, R Clarke, L Coin, J Connell, IN Day, M den Heijer, J Duan, S Ebrahim, P Elliott, R Elosua, G Eiriksdottir, MR Erdos, JG Eriksson, MF Facheris, SB Felix, P Fischer-Posovszky, AR Folsom, N Friedrich, NB Freimer, M Fu, S Gaget, PV Gejman, EJ Geus, C Gieger, AP Gjesing, A Goel, P Goyette, H Grallert, J Grässler, DM Greenawalt, CJ Groves, V Gudnason, C Guiducci, AL Hartikainen, N Hassanali, AS Hall, AS Havulinna, C Hayward, AC Heath, C Hengstenberg, AA Hicks, A Hinney, A Hofman, G Homuth, J Hui, W Igl, C Iribarren, B Isomaa, KB Jacobs, I Jarick, E Jewell, U John, T Jørgensen, P Jousilahti, A Jula, M Kaakinen, E Kajantie, LM Kaplan, S Kathiresan, J Kettunen, L Kinnunen, JW Knowles, I Kolcic, IR König, S Koskinen, P Kovacs, J Kuusisto, P Kraft, K Kvaløy, J Laitinen, O Lantieri, C Lanzani, LJ Launer, C Lecoeur, T Lehtimäki, G Lettre, J Liu, ML Lokki, M Lorentzon, RN Luben, B Ludwig, , P Manunta, D Marek, M Marre, NG Martin, WL McArdle, A McCarthy, B McKnight, T Meitinger, O Melander, D Meyre, K Midthjell, GW Montgomery, MA Morken, AP Morris, R Mulic, JS Ngwa, M Nelis, MJ Neville, DR Nyholt, CJ O'Donnell, S O'Rahilly, KK Ong, B Oostra, G Paré, AN Parker, M Perola, I Pichler, KH Pietiläinen, CG Platou, O Polasek, A Pouta, S Rafelt, O Raitakari, NW Rayner, M Ridderstråle, W Rief, A Ruokonen, NR Robertson, P Rzehak, V Salomaa, AR Sanders, MS Sandhu, S Sanna, J Saramies, MJ Savolainen, S Scherag, S Schipf, S Schreiber, H Schunkert, K Silander, J Sinisalo, DS Siscovick, JH Smit, N Soranzo, U Sovio, J Stephens, I Surakka, AJ Swift, ML Tammesoo, JC Tardif, M Teder-Laving, TM Teslovich, JR Thompson, B Thomson, A Tönjes, T Tuomi, JB van Meurs, GJ van Ommen, V Vatin, J Viikari, S Visvikis-Siest, V Vitart, CI Vogel, BF Voight, LL Waite, H Wallaschofski, GB Walters, E Widen, S Wiegand, SH Wild, G Willemsen, DR Witte, JC Witteman, J Xu, Q Zhang, L Zgaga, A Ziegler, P Zitting, JP Beilby, IS Farooqi, J Hebebrand, HV Huikuri, AL James, M Kähönen, DF Levinson, F Macciardi, MS Nieminen, C Ohlsson, LJ Palmer, PM Ridker, M Stumvoll, JS Beckmann, H Boeing, E Boerwinkle, DI Boomsma, MJ Caulfield, SJ Chanock, FS Collins, LA Cupples, GD Smith, J Erdmann, P Froguel, H Grönberg, U Gyllensten, P Hall, T Hansen, TB Harris, AT Hattersley, RB Hayes, J Heinrich, FB Hu, K Hveem, T Illig, MR Jarvelin, J Kaprio, F Karpe, KT Khaw, LA Kiemeney, H Krude, M Laakso, DA Lawlor, A Metspalu, PB Munroe, WH Ouwehand, O Pedersen, BW Penninx, A Peters, PP Pramstaller, T Quertermous, T Reinehr, A Rissanen, I Rudan, NJ Samani, PE Schwarz, AR Shuldiner, TD Spector, J Tuomilehto, M Uda, A Uitterlinden, TT Valle, M Wabitsch, G Waeber, NJ Wareham, H Watkins, , JF Wilson, AF Wright, MC Zillikens, N Chatterjee, SA McCarroll, S Purcell, EE Schadt, PM Visscher, TL Assimes, IB Borecki, P Deloukas, CS Fox, LC Groop, T Haritunians, DJ Hunter, RC Kaplan, KL Mohlke, JR O'Connell, L Peltonen, D Schlessinger, DP Strachan, CM van Duijn, HE Wichmann, TM Frayling, U Thorsteinsdottir, GR Abecasis, I Barroso, M Boehnke, K Stefansson, KE North, MI McCarthy, JN Hirschhorn, E Ingelsson, RJ Loos
Publication Date: 2010-11

Variant appearance in text: rs8049439
PubMed Link: 20935630
Variant Present in the following documents:
  • NIHMS237282-supplement-1.pdf
View BVdb publication page



Analyses of shared genetic factors between asthma and obesity in children.

The Journal Of Allergy And Clinical Immunology
E Melén, BE Himes, JM Brehm, N Boutaoui, BJ Klanderman, JS Sylvia, J Lasky-Su
Publication Date: 2010-09

Variant appearance in text: rs8049439
PubMed Link: 20816195
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.

Arthritis And Rheumatism
RM Clancy, MC Marion, KM Kaufman, PS Ramos, A Adler, , JB Harley, CD Langefeld, JP Buyon
Publication Date: 2010-11

Variant appearance in text: rs8049439
PubMed Link: 20662065
Variant Present in the following documents:
  • Main text
  • NIHMS397722-supplement-Supplemental_Table_3.pdf
View BVdb publication page



Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.

Plos One
T Zeller, P Wild, S Szymczak, M Rotival, A Schillert, R Castagne, S Maouche, M Germain, K Lackner, H Rossmann, M Eleftheriadis, CR Sinning, RB Schnabel, E Lubos, D Mennerich, W Rust, C Perret, C Proust, V Nicaud, J Loscalzo, N Hübner, D Tregouet, T Münzel, A Ziegler, L Tiret, S Blankenberg, F Cambien
Publication Date: 2010-05-18

Variant appearance in text: rs8049439
PubMed Link: 20502693
Variant Present in the following documents:
  • pone.0010693.s002.doc
View BVdb publication page



Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.

Plos Genetics
A Scherag, C Dina, A Hinney, V Vatin, S Scherag, CI Vogel, TD Müller, H Grallert, HE Wichmann, B Balkau, B Heude, MR Jarvelin, AL Hartikainen, C Levy-Marchal, J Weill, J Delplanque, A Körner, W Kiess, P Kovacs, NW Rayner, I Prokopenko, MI McCarthy, H Schäfer, I Jarick, H Boeing, E Fisher, T Reinehr, J Heinrich, P Rzehak, D Berdel, M Borte, H Biebermann, H Krude, D Rosskopf, C Rimmbach, W Rief, T Fromme, M Klingenspor, A Schürmann, N Schulz, MM Nöthen, TW Mühleisen, R Erbel, KH Jöckel, S Moebus, T Boes, T Illig, P Froguel, J Hebebrand, D Meyre
Publication Date: 2010-04-22

Variant appearance in text: rs8049439
PubMed Link: 20421936
Variant Present in the following documents:
  • pgen.1000916.s010.doc
View BVdb publication page



Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.

Human Molecular Genetics
K Wang, R Baldassano, H Zhang, HQ Qu, M Imielinski, S Kugathasan, V Annese, M Dubinsky, JI Rotter, RK Russell, JP Bradfield, PM Sleiman, JT Glessner, T Walters, C Hou, C Kim, EC Frackelton, M Garris, J Doran, C Romano, C Catassi, J Van Limbergen, SL Guthery, L Denson, D Piccoli, MS Silverberg, CA Stanley, D Monos, DC Wilson, A Griffiths, SF Grant, J Satsangi, C Polychronakos, H Hakonarson
Publication Date: 2010-05-15

Variant appearance in text: rs8049439
PubMed Link: 20176734
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recent progress in the genetics of common obesity.

British Journal Of Clinical Pharmacology
RJ Loos
Publication Date: 2009-12

Variant appearance in text: rs8049439
PubMed Link: 20002076
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants at five new loci associated with early-onset inflammatory bowel disease.

Nature Genetics
M Imielinski, RN Baldassano, A Griffiths, RK Russell, V Annese, M Dubinsky, S Kugathasan, JP Bradfield, TD Walters, P Sleiman, CE Kim, A Muise, K Wang, JT Glessner, S Saeed, H Zhang, EC Frackelton, C Hou, JH Flory, G Otieno, RM Chiavacci, R Grundmeier, M Castro, A Latiano, B Dallapiccola, J Stempak, DJ Abrams, K Taylor, D McGovern, , G Silber, I Wrobel, A Quiros, , JC Barrett, S Hansoul, DL Nicolae, JH Cho, RH Duerr, JD Rioux, SR Brant, MS Silverberg, KD Taylor, MM Barmuda, A Bitton, T Dassopoulos, LW Datta, T Green, AM Griffiths, EO Kistner, MT Murtha, MD Regueiro, JI Rotter, LP Schumm, AH Steinhart, SR Targan, RJ Xavier, , C Libioulle, C Sandor, M Lathrop, J Belaiche, O Dewit, I Gut, S Heath, D Laukens, M Mni, P Rutgeerts, A Van Gossum, D Zelenika, D Franchimont, JP Hugot, M de Vos, S Vermeire, E Louis, , , LR Cardon, CA Anderson, H Drummond, E Nimmo, T Ahmad, NJ Prescott, CM Onnie, SA Fisher, J Marchini, J Ghori, S Bumpstead, R Gwillam, M Tremelling, P Delukas, J Mansfield, D Jewell, J Satsangi, CG Mathew, M Parkes, M Georges, MJ Daly, MB Heyman, GD Ferry, B Kirschner, J Lee, J Essers, R Grand, M Stephens, A Levine, D Piccoli, J Van Limbergen, S Cucchiara, DS Monos, SL Guthery, L Denson, DC Wilson, SF Grant, M Daly, MS Silverberg, J Satsangi, H Hakonarson
Publication Date: 2009-12

Variant appearance in text: rs8049439
PubMed Link: 19915574
Variant Present in the following documents:
  • Main text
  • NIHMS339303-supplement-Suppl_Data.pdf
View BVdb publication page



Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

Plos Genetics
CM Lindgren, IM Heid, JC Randall, C Lamina, V Steinthorsdottir, L Qi, EK Speliotes, G Thorleifsson, CJ Willer, BM Herrera, AU Jackson, N Lim, P Scheet, N Soranzo, N Amin, YS Aulchenko, JC Chambers, A Drong, J Luan, HN Lyon, F Rivadeneira, S Sanna, NJ Timpson, MC Zillikens, JH Zhao, P Almgren, S Bandinelli, AJ Bennett, RN Bergman, LL Bonnycastle, SJ Bumpstead, SJ Chanock, L Cherkas, P Chines, L Coin, C Cooper, G Crawford, A Doering, A Dominiczak, AS Doney, S Ebrahim, P Elliott, MR Erdos, K Estrada, L Ferrucci, G Fischer, NG Forouhi, C Gieger, H Grallert, CJ Groves, S Grundy, C Guiducci, D Hadley, A Hamsten, AS Havulinna, A Hofman, R Holle, JW Holloway, T Illig, B Isomaa, LC Jacobs, K Jameson, P Jousilahti, F Karpe, J Kuusisto, J Laitinen, GM Lathrop, DA Lawlor, M Mangino, WL McArdle, T Meitinger, MA Morken, AP Morris, P Munroe, N Narisu, A Nordström, P Nordström, BA Oostra, CN Palmer, F Payne, JF Peden, I Prokopenko, F Renström, A Ruokonen, V Salomaa, MS Sandhu, LJ Scott, A Scuteri, K Silander, K Song, X Yuan, HM Stringham, AJ Swift, T Tuomi, M Uda, P Vollenweider, G Waeber, C Wallace, GB Walters, MN Weedon, , JC Witteman, C Zhang, W Zhang, MJ Caulfield, FS Collins, G Davey Smith, IN Day, PW Franks, AT Hattersley, FB Hu, MR Jarvelin, A Kong, JS Kooner, M Laakso, E Lakatta, V Mooser, AD Morris, L Peltonen, NJ Samani, TD Spector, DP Strachan, T Tanaka, J Tuomilehto, AG Uitterlinden, CM van Duijn, NJ Wareham, Hugh Watkins, , DM Waterworth, M Boehnke, P Deloukas, L Groop, DJ Hunter, U Thorsteinsdottir, D Schlessinger, HE Wichmann, TM Frayling, GR Abecasis, JN Hirschhorn, RJ Loos, K Stefansson, KL Mohlke, I Barroso, MI McCarthy,
Publication Date: 2009-06

Variant appearance in text: rs8049439
PubMed Link: 19557161
Variant Present in the following documents:
  • pgen.1000508.s010.xls
View BVdb publication page



The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI.

Obesity (Silver Spring, Md.)
J Zhao, JP Bradfield, M Li, K Wang, H Zhang, CE Kim, K Annaiah, JT Glessner, K Thomas, M Garris, EC Frackelton, FG Otieno, JL Shaner, RM Smith, RM Chiavacci, RI Berkowitz, H Hakonarson, SF Grant
Publication Date: 2009-12

Variant appearance in text: rs8049439
PubMed Link: 19478790
Variant Present in the following documents:
  • Main text
  • NIHMS195995-supplement-Supplementary_Tables.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000325215.6 c.466-46T>G - intron_variant - 4/22
ENST00000336783.4 c.466-46T>G - intron_variant - 4/21
ENST00000340394.8 c.466-46T>G - intron_variant - 4/22
ENST00000382686.4 c.466-46T>G - intron_variant - 4/22
ENST00000395547.2 c.466-46T>G - intron_variant - 4/23
ENST00000562867.1 n.244-46T>G - intron_variant,non_coding_transcript_variant - 4/4
ENST00000563314.1 n.691-46T>G - intron_variant,non_coding_transcript_variant - 4/20
ENST00000564304.1 c.466-46T>G - intron_variant - 4/22
ENST00000564656.1 c.100-46T>G - intron_variant - 4/5
ENST00000565971.1 c.73-46T>G - intron_variant,NMD_transcript_variant - 1/14
ENST00000568266.1 c.286-46T>G - intron_variant - 4/8
ENST00000570200.1 c.466-46T>G - intron_variant - 4/22
NM_001308230.1 c.466-46T>G - intron_variant - 4/22
NM_007245.3 c.466-46T>G - intron_variant - 4/21
NM_017492.3 c.466-46T>G - intron_variant - 4/22
NM_145714.2 c.466-46T>G - intron_variant - 4/22
NM_148414.2 c.466-46T>G - intron_variant - 4/23
NM_148415.2 c.466-46T>G - intron_variant - 4/22
NM_148416.2 c.466-46T>G - intron_variant - 4/22