Variant ID: 7-73020337-C-G

NM_032951.2(MLXIPL):c.723G>C;(p.Gln241His)

This variant was identified in 45 publications




Publications:


Genetic risk score predicts risk for overweight and obesity in Finnish preadolescents.

Clinical Obesity
H Viljakainen, E Dahlström, R Figueiredo, N Sandholm, TB Rounge, E Weiderpass
Publication Date: 2019-12

Variant appearance in text: rs3812316
PubMed Link: 31595703
Variant Present in the following documents:
  • Main text
  • COB-9-na.pdf
View BVdb publication page



Metabolic and Vascular Effect of the Mediterranean Diet.

International Journal Of Molecular Sciences
A Tuttolomondo, I Simonetta, M Daidone, A Mogavero, A Ortello, A Pinto
Publication Date: 2019-09-23

Variant appearance in text: rs3812316
PubMed Link: 31547615
Variant Present in the following documents:
  • Main text
  • ijms-20-04716.pdf
View BVdb publication page



GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits.

Nature Communications
R Pazoki, E Evangelou, D Mosen-Ansorena, RC Pinto, I Karaman, P Blakeley, D Gill, V Zuber, P Elliott, I Tzoulaki, A Dehghan
Publication Date: 2019-08-13

Variant appearance in text: rs3812316
PubMed Link: 31409800
Variant Present in the following documents:
  • 41467_2019_11451_MOESM15_ESM.xlsx
  • 41467_2019_11451_MOESM17_ESM.xlsx
  • 41467_2019_11451_MOESM19_ESM.xlsx
  • 41467_2019_11451_MOESM5_ESM.xlsx
  • 41467_2019_11451_MOESM9_ESM.xlsx
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Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs3812316
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



Identification of 22 novel loci associated with urinary biomarkers of albumin, sodium, and potassium excretion.

Kidney International
D Zanetti, A Rao, S Gustafsson, TL Assimes, SB Montgomery, E Ingelsson
Publication Date: 2019-05

Variant appearance in text: rs3812316
PubMed Link: 30910378
Variant Present in the following documents:
  • Main 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: rs3812316
PubMed Link: 30827501
Variant Present in the following documents:
  • mmc7.xlsx
View BVdb publication page



Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Nature Genetics
AE Justice, T Karaderi, HM Highland, KL Young, M Graff, Y Lu, V Turcot, PL Auer, RS Fine, X Guo, C Schurmann, A Lempradl, E Marouli, A Mahajan, TW Winkler, AE Locke, C Medina-Gomez, T Esko, S Vedantam, A Giri, KS Lo, T Alfred, P Mudgal, MCY Ng, NL Heard-Costa, MF Feitosa, AK Manning, SM Willems, S Sivapalaratnam, G Abecasis, DS Alam, M Allison, P Amouyel, Z Arzumanyan, B Balkau, L Bastarache, S Bergmann, LF Bielak, M Blüher, M Boehnke, H Boeing, E Boerwinkle, CA Böger, J Bork-Jensen, EP Bottinger, DW Bowden, I Brandslund, L Broer, AA Burt, AS Butterworth, MJ Caulfield, G Cesana, JC Chambers, DI Chasman, YI Chen, R Chowdhury, C Christensen, AY Chu, FS Collins, JP Cook, AJ Cox, DS Crosslin, J Danesh, PIW de Bakker, S Denus, R Mutsert, G Dedoussis, EW Demerath, JG Dennis, JC Denny, E Di Angelantonio, M Dörr, F Drenos, MP Dubé, AM Dunning, DF Easton, P Elliott, E Evangelou, AE Farmaki, S Feng, E Ferrannini, J Ferrieres, JC Florez, M Fornage, CS Fox, PW Franks, N Friedrich, W Gan, I Gandin, P Gasparini, V Giedraitis, G Girotto, M Gorski, H Grallert, N Grarup, ML Grove, S Gustafsson, J Haessler, T Hansen, AT Hattersley, C Hayward, IM Heid, OL Holmen, GK Hovingh, JMM Howson, Y Hu, YJ Hung, K Hveem, MA Ikram, E Ingelsson, AU Jackson, GP Jarvik, Y Jia, T Jørgensen, P Jousilahti, JM Justesen, B Kahali, M Karaleftheri, SLR Kardia, F Karpe, F Kee, H Kitajima, P Komulainen, JS Kooner, P Kovacs, BK Krämer, K Kuulasmaa, J Kuusisto, M Laakso, TA Lakka, D Lamparter, LA Lange, C Langenberg, EB Larson, NR Lee, WJ Lee, T Lehtimäki, CE Lewis, H Li, J Li, R Li-Gao, LA Lin, X Lin, L Lind, J Lindström, A Linneberg, CT Liu, DJ Liu, J Luan, LP Lyytikäinen, S MacGregor, R Mägi, S Männistö, G Marenne, J Marten, NGD Masca, MI McCarthy, K Meidtner, E Mihailov, L Moilanen, M Moitry, DO Mook-Kanamori, A Morgan, AP Morris, M Müller-Nurasyid, PB Munroe, N Narisu, CP Nelson, M Neville, I Ntalla, JR O'Connell, KR Owen, O Pedersen, GM Peloso, CE Pennell, M Perola, JA Perry, JRB Perry, TH Pers, A Ewing, O Polasek, OT Raitakari, A Rasheed, CK Raulerson, R Rauramaa, DF Reilly, AP Reiner, PM Ridker, MA Rivas, NR Robertson, A Robino, I Rudan, KS Ruth, D Saleheen, V Salomaa, NJ Samani, PJ Schreiner, MB Schulze, RA Scott, M Segura-Lepe, X Sim, AJ Slater, KS Small, BH Smith, JA Smith, L Southam, TD Spector, EK Speliotes, K Stefansson, V Steinthorsdottir, KE Stirrups, K Strauch, HM Stringham, M Stumvoll, L Sun, P Surendran, KMA Swart, JC Tardif, KD Taylor, A Teumer, DJ Thompson, G Thorleifsson, U Thorsteinsdottir, BH Thuesen, A Tönjes, M Torres, E Tsafantakis, J Tuomilehto, AG Uitterlinden, M Uusitupa, CM van Duijn, M Vanhala, R Varma, SH Vermeulen, H Vestergaard, V Vitart, TF Vogt, D Vuckovic, LE Wagenknecht, M Walker, L Wallentin, F Wang, CA Wang, S Wang, NJ Wareham, HR Warren, DM Waterworth, J Wessel, HD White, CJ Willer, JG Wilson, AR Wood, Y Wu, H Yaghootkar, J Yao, LM Yerges-Armstrong, R Young, E Zeggini, X Zhan, W Zhang, JH Zhao, W Zhao, H Zheng, W Zhou, MC Zillikens, F Rivadeneira, IB Borecki, JA Pospisilik, P Deloukas, TM Frayling, G Lettre, KL Mohlke, JI Rotter, Z Kutalik, JN Hirschhorn, LA Cupples, RJF Loos, KE North, CM Lindgren, , , , , , , , , ,
Publication Date: 2019-03

Variant appearance in text: rs3812316
PubMed Link: 30778226
Variant Present in the following documents:
  • Main text
  • nihms-1016010.pdf
  • NIHMS1016010-supplement-SupplementaryData11.xlsx
  • NIHMS1016010-supplement-SupplementaryData12.xlsx
  • NIHMS1016010-supplement-SupplementaryData14.xlsx
  • NIHMS1016010-supplement-SupplementaryData15.xlsx
  • NIHMS1016010-supplement-SupplementaryData16.xlsx
  • NIHMS1016010-supplement-SupplementaryData17.xlsx
  • NIHMS1016010-supplement-SupplementaryData4.xlsx
  • NIHMS1016010-supplement-SupplementaryData5.xlsx
  • NIHMS1016010-supplement-SupplementaryData6.xlsx
  • NIHMS1016010-supplement-SupplementaryData7.xlsx
  • NIHMS1016010-supplement-Supplementaryfig.pdf
View BVdb publication page



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

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

Variant appearance in text: rs3812316
PubMed Link: 30279335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine
ND Kopp, PCR Parrish, M Lugo, JD Dougherty, BA Kozel
Publication Date: 2018-09

Variant appearance in text: MLXIPL: Q241H; rs3812316
PubMed Link: 30008175
Variant Present in the following documents:
  • Main text
  • MGG3-6-749-s003.xlsx
  • MGG3-6-749-s005.docx
View BVdb publication page



Lipid regulatory genes polymorphism in children with and without obesity and cardiometabolic risk factors: The CASPIAN-III study.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences
S Hovsepian, SH Javanmard, M Mansourian, M Hashemipour, M Tajadini, R Kelishadi
Publication Date: 2018

Variant appearance in text: rs3812316
PubMed Link: 29531563
Variant Present in the following documents:
  • Main text
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: rs3812316
PubMed Link: 29500431
Variant Present in the following documents:
  • 41467_2018_3371_MOESM7_ESM.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs3812316
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
View BVdb publication page



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

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

Variant appearance in text: MLXIPL: Gln241His; rs3812316
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-1.docx
View BVdb publication page



Precision Nutrition: A Review of Personalized Nutritional Approaches for the Prevention and Management of Metabolic Syndrome.

Nutrients
J de Toro-Martín, BJ Arsenault, JP Després, MC Vohl
Publication Date: 2017-08-22

Variant appearance in text: rs3812316
PubMed Link: 28829397
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

Plos Genetics
M Graff, RA Scott, AE Justice, KL Young, MF Feitosa, L Barata, TW Winkler, AY Chu, A Mahajan, D Hadley, L Xue, T Workalemahu, NL Heard-Costa, M den Hoed, TS Ahluwalia, Q Qi, JS Ngwa, F Renström, L Quaye, JD Eicher, JE Hayes, M Cornelis, Z Kutalik, E Lim, J Luan, JE Huffman, W Zhang, W Zhao, PJ Griffin, T Haller, S Ahmad, PM Marques-Vidal, S Bien, L Yengo, A Teumer, AV Smith, M Kumari, MN Harder, JM Justesen, ME Kleber, M Hollensted, K Lohman, NV Rivera, JB Whitfield, JH Zhao, HM Stringham, LP Lyytikäinen, C Huppertz, G Willemsen, WJ Peyrot, Y Wu, K Kristiansson, A Demirkan, M Fornage, M Hassinen, LF Bielak, G Cadby, T Tanaka, R Mägi, PJ van der Most, AU Jackson, JL Bragg-Gresham, V Vitart, J Marten, P Navarro, C Bellis, D Pasko, Å Johansson, S Snitker, YC Cheng, J Eriksson, U Lim, M Aadahl, LS Adair, N Amin, B Balkau, J Auvinen, J Beilby, RN Bergman, S Bergmann, AG Bertoni, J Blangero, A Bonnefond, LL Bonnycastle, JB Borja, S Brage, F Busonero, S Buyske, H Campbell, PS Chines, FS Collins, T Corre, GD Smith, GE Delgado, N Dueker, M Dörr, T Ebeling, G Eiriksdottir, T Esko, JD Faul, M Fu, K Færch, C Gieger, S Gläser, J Gong, P Gordon-Larsen, H Grallert, TB Grammer, N Grarup, G van Grootheest, K Harald, ND Hastie, AS Havulinna, D Hernandez, L Hindorff, LJ Hocking, OL Holmens, C Holzapfel, JJ Hottenga, J Huang, T Huang, J Hui, C Huth, N Hutri-Kähönen, AL James, JO Jansson, MA Jhun, M Juonala, L Kinnunen, HA Koistinen, I Kolcic, P Komulainen, J Kuusisto, K Kvaløy, M Kähönen, TA Lakka, LJ Launer, B Lehne, CM Lindgren, M Lorentzon, R Luben, M Marre, Y Milaneschi, KL Monda, GW Montgomery, MHM De Moor, A Mulas, M Müller-Nurasyid, AW Musk, R Männikkö, S Männistö, N Narisu, M Nauck, JA Nettleton, IM Nolte, AJ Oldehinkel, M Olden, KK Ong, S Padmanabhan, L Paternoster, J Perez, M Perola, A Peters, U Peters, PA Peyser, I Prokopenko, H Puolijoki, OT Raitakari, T Rankinen, LJ Rasmussen-Torvik, R Rawal, PM Ridker, LM Rose, I Rudan, C Sarti, MA Sarzynski, K Savonen, WR Scott, S Sanna, AR Shuldiner, S Sidney, G Silbernagel, BH Smith, JA Smith, H Snieder, A Stančáková, B Sternfeld, AJ Swift, T Tammelin, ST Tan, B Thorand, D Thuillier, L Vandenput, H Vestergaard, JV van Vliet-Ostaptchouk, MC Vohl, U Völker, G Waeber, M Walker, S Wild, A Wong, AF Wright, MC Zillikens, N Zubair, CA Haiman, L Lemarchand, U Gyllensten, C Ohlsson, A Hofman, F Rivadeneira, AG Uitterlinden, L Pérusse, JF Wilson, C Hayward, O Polasek, F Cucca, K Hveem, CA Hartman, A Tönjes, S Bandinelli, LJ Palmer, SLR Kardia, R Rauramaa, TIA Sørensen, J Tuomilehto, V Salomaa, BWJH Penninx, EJC de Geus, DI Boomsma, T Lehtimäki, M Mangino, M Laakso, C Bouchard, NG Martin, D Kuh, Y Liu, A Linneberg, W März, K Strauch, M Kivimäki, TB Harris, V Gudnason, H Völzke, L Qi, MR Järvelin, JC Chambers, JS Kooner, P Froguel, C Kooperberg, P Vollenweider, G Hallmans, T Hansen, O Pedersen, A Metspalu, NJ Wareham, C Langenberg, DR Weir, DJ Porteous, E Boerwinkle, DI Chasman, , , , GR Abecasis, I Barroso, MI McCarthy, TM Frayling, JR O'Connell, CM van Duijn, M Boehnke, IM Heid, KL Mohlke, DP Strachan, CS Fox, CT Liu, JN Hirschhorn, RJ Klein, AD Johnson, IB Borecki, PW Franks, KE North, LA Cupples, RJF Loos, TO Kilpeläinen
Publication Date: 2017-04

Variant appearance in text: rs3812316
PubMed Link: 28448500
Variant Present in the following documents:
  • pgen.1006528.s019.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs3812316
PubMed Link: 28426890
Variant Present in the following documents:
  • ddw358_supp.docx
View BVdb publication page



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

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

Variant appearance in text: rs3812316
PubMed Link: 28371326
Variant Present in the following documents:
  • JCMM-21-1106-s002.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs3812316
PubMed Link: 28257690
Variant Present in the following documents:
  • Main text
  • mmc3.xlsx
  • mmc5.xlsx
  • mmc8.pdf
View BVdb publication page



Advances in Integrating Traditional and Omic Biomarkers When Analyzing the Effects of the Mediterranean Diet Intervention in Cardiovascular Prevention.

International Journal Of Molecular Sciences
M Fitó, O Melander, JA Martínez, E Toledo, C Carpéné, D Corella
Publication Date: 2016-09-02

Variant appearance in text: MLXIPL: Gln241His; rs3812316
PubMed Link: 27598147
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nutrition and Cardiovascular Disease: Finding the Perfect Recipe for Cardiovascular Health.

Nutrients
A Ravera, V Carubelli, E Sciatti, I Bonadei, E Gorga, D Cani, E Vizzardi, M Metra, C Lombardi
Publication Date: 2016-06-14

Variant appearance in text: rs3812316
PubMed Link: 27314382
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of ChREBP and Global DNA Methylation with Genetic and Environmental Factors in Chinese Healthy Adults.

Plos One
J Gao, X Qiu, X Wang, C Peng, F Zheng
Publication Date: 2016

Variant appearance in text: rs3812316
PubMed Link: 27281235
Variant Present in the following documents:
  • Main text
  • pone.0157128.s001.xlsx
  • pone.0157128.s003.docx
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
JK Pickrell, T Berisa, JZ Liu, L Ségurel, JY Tung, DA Hinds
Publication Date: 2016-07

Variant appearance in text: MLXIPL: Q241H; rs3812316
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-12.pdf
View BVdb publication page



Nutritional Genomics and the Mediterranean Diet's Effects on Human Cardiovascular Health.

Nutrients
M Fitó, V Konstantinidou
Publication Date: 2016-04-13

Variant appearance in text: rs3812316
PubMed Link: 27089360
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of power of the Illumina HumanOmni5M-4v1 BeadChip to detect risk variants for human complex diseases.

European Journal Of Human Genetics : Ejhg
C Xing, J Huang, YH Hsu, AL DeStefano, NL Heard-Costa, PA Wolf, S Seshadri, DP Kiel, LA Cupples, J Dupuis
Publication Date: 2016-07

Variant appearance in text: rs3812316
PubMed Link: 26577045
Variant Present in the following documents:
  • ejhg2015244x1.pdf
View BVdb publication page



Low-Frequency IL23R Coding Variant Associated with Crohn's Disease Susceptibility in Japanese Subjects Identified by Personal Genomics Analysis.

Plos One
K Onodera, Y Arimura, H Isshiki, K Kawakami, K Nagaishi, K Yamashita, E Yamamoto, T Niinuma, Y Naishiro, H Suzuki, K Imai, Y Shinomura
Publication Date: 2015

Variant appearance in text: rs3812316
PubMed Link: 26375822
Variant Present in the following documents:
  • Main text
  • pone.0137801.s001.docx
  • pone.0137801.s002.docx
View BVdb publication page



Genetic Contribution of Variants near SORT1 and APOE on LDL Cholesterol Independent of Obesity in Children.

Plos One
C Breitling, A Gross, P Büttner, S Weise, D Schleinitz, W Kiess, M Scholz, P Kovacs, A Körner
Publication Date: 2015

Variant appearance in text: MLXIPL: Q241H; rs3812316
PubMed Link: 26375028
Variant Present in the following documents:
  • Main text
  • pone.0138064.s001.xlsx
  • pone.0138064.s002.docx
  • pone.0138064.s007.docx
  • pone.0138064.s010.docx
  • pone.0138064.s011.docx
View BVdb publication page



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

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

Variant appearance in text: rs3812316
PubMed Link: 26130488
Variant Present in the following documents:
  • ejhg2015150x4.xls
View BVdb publication page



The impact of low-frequency and rare variants on lipid levels.

Nature Genetics
I Surakka, M Horikoshi, R Mägi, AP Sarin, A Mahajan, V Lagou, L Marullo, T Ferreira, B Miraglio, S Timonen, J Kettunen, M Pirinen, J Karjalainen, G Thorleifsson, S Hägg, JJ Hottenga, A Isaacs, C Ladenvall, M Beekman, T Esko, JS Ried, CP Nelson, C Willenborg, S Gustafsson, HJ Westra, M Blades, AJ de Craen, EJ de Geus, J Deelen, H Grallert, A Hamsten, AS Havulinna, C Hengstenberg, JJ Houwing-Duistermaat, E Hyppönen, LC Karssen, T Lehtimäki, V Lyssenko, PK Magnusson, E Mihailov, M Müller-Nurasyid, JP Mpindi, NL Pedersen, BW Penninx, M Perola, TH Pers, A Peters, J Rung, JH Smit, V Steinthorsdottir, MD Tobin, N Tsernikova, EM van Leeuwen, JS Viikari, SM Willems, G Willemsen, H Schunkert, J Erdmann, NJ Samani, J Kaprio, L Lind, C Gieger, A Metspalu, PE Slagboom, L Groop, CM van Duijn, JG Eriksson, A Jula, V Salomaa, DI Boomsma, C Power, OT Raitakari, E Ingelsson, MR Järvelin, U Thorsteinsdottir, L Franke, E Ikonen, O Kallioniemi, V Pietiäinen, CM Lindgren, K Stefansson, A Palotie, MI McCarthy, AP Morris, I Prokopenko, S Ripatti,
Publication Date: 2015-06

Variant appearance in text: MLXIPL: Gln241His; rs3812316
PubMed Link: 25961943
Variant Present in the following documents:
  • Main text
  • NIHMS67068-supplement-Supplementary_figures.docx
  • NIHMS67068-supplement-Supplementary_tables_1-7__9-14.docx
View BVdb publication page



C771G (His241Gln) polymorphism of MLXIPL gene, TG levels and coronary artery disease: a case control study.

Anatolian Journal Of Cardiology
A Ghasemi, H Aghajani, S Fallah, M Assadi, M Seifi
Publication Date: 2015-01

Variant appearance in text: rs3812316
PubMed Link: 25179879
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between the MLX interacting protein-like, BUD13 homolog and zinc finger protein 259 gene polymorphisms and serum lipid levels.

Scientific Reports
LH Aung, RX Yin, JZ Wu, DF Wu, W Wang, H Li
Publication Date: 2014-07-03

Variant appearance in text: MLXIPL: Gln241His; rs3812316
PubMed Link: 24989072
Variant Present in the following documents:
  • Main text
  • srep05565-s1.doc
View BVdb publication page



A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations.

Nature Genetics
S Kohsaka, N Shukla, N Ameur, T Ito, CK Ng, L Wang, D Lim, A Marchetti, A Viale, M Pirun, ND Socci, LX Qin, R Sciot, J Bridge, S Singer, P Meyers, LH Wexler, FG Barr, S Dogan, JA Fletcher, JS Reis-Filho, M Ladanyi
Publication Date: 2014-06

Variant appearance in text: rs3812316
PubMed Link: 24793135
Variant Present in the following documents:
  • NIHMS635209-supplement-Table_3.xlsx
View BVdb publication page



Coronary heart disease-associated variation in TCF21 disrupts a miR-224 binding site and miRNA-mediated regulation.

Plos Genetics
CL Miller, U Haas, R Diaz, NJ Leeper, RK Kundu, B Patlolla, TL Assimes, FJ Kaiser, L Perisic, U Hedin, L Maegdefessel, H Schunkert, J Erdmann, T Quertermous, G Sczakiel
Publication Date: 2014-03

Variant appearance in text: rs3812316
PubMed Link: 24676100
Variant Present in the following documents:
  • pgen.1004263.s004.xls
View BVdb publication page



Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'.

Trends In Genetics : Tig
X Zhang, SD Bailey, M Lupien
Publication Date: 2014-04

Variant appearance in text: MLXIPL: Q241H; rs3812316
PubMed Link: 24661571
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Nature Genetics
OL Holmen, H Zhang, Y Fan, DH Hovelson, EM Schmidt, W Zhou, Y Guo, J Zhang, A Langhammer, ML Løchen, SK Ganesh, L Vatten, F Skorpen, H Dalen, J Zhang, S Pennathur, J Chen, C Platou, EB Mathiesen, T Wilsgaard, I Njølstad, M Boehnke, YE Chen, GR Abecasis, K Hveem, CJ Willer
Publication Date: 2014-04

Variant appearance in text: MLXIPL: Gln241His; rs3812316
PubMed Link: 24633158
Variant Present in the following documents:
  • NIHMS570373-supplement-1.pdf
View BVdb publication page



Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers.

Cancer Discovery
CR Pickering, J Zhang, SY Yoo, L Bengtsson, S Moorthy, DM Neskey, M Zhao, MV Ortega Alves, K Chang, J Drummond, E Cortez, TX Xie, D Zhang, W Chung, JP Issa, PA Zweidler-McKay, X Wu, AK El-Naggar, JN Weinstein, J Wang, DM Muzny, RA Gibbs, DA Wheeler, JN Myers, MJ Frederick
Publication Date: 2013-07

Variant appearance in text: rs3812316
PubMed Link: 23619168
Variant Present in the following documents:
  • NIHMS473916-supplement-3.xlsx
View BVdb publication page



Genetic variants from lipid-related pathways and risk for incident myocardial infarction.

Plos One
C Song, NL Pedersen, CA Reynolds, M Sabater-Lleal, S Kanoni, C Willenborg, , AC Syvänen, H Watkins, A Hamsten, JA Prince, E Ingelsson
Publication Date: 2013

Variant appearance in text: rs3812316
PubMed Link: 23555974
Variant Present in the following documents:
  • pone.0060454.s001.pdf
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: rs3812316
PubMed Link: 22433082
Variant Present in the following documents:
  • mmc1.xls
View BVdb publication page



Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

Nature Genetics
J Kettunen, T Tukiainen, AP Sarin, A Ortega-Alonso, E Tikkanen, LP Lyytikäinen, AJ Kangas, P Soininen, P Würtz, K Silander, DM Dick, RJ Rose, MJ Savolainen, J Viikari, M Kähönen, T Lehtimäki, KH Pietiläinen, M Inouye, MI McCarthy, A Jula, J Eriksson, OT Raitakari, V Salomaa, J Kaprio, MR Järvelin, L Peltonen, M Perola, NB Freimer, M Ala-Korpela, A Palotie, S Ripatti
Publication Date: 2012-01-29

Variant appearance in text: rs3812316
PubMed Link: 22286219
Variant Present in the following documents:
  • NIHMS444574-supplement-supplementary_table_2.xlsx
View BVdb publication page



Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

Nature Genetics
JC Chambers, W Zhang, J Sehmi, X Li, MN Wass, P Van der Harst, H Holm, S Sanna, M Kavousi, SE Baumeister, LJ Coin, G Deng, C Gieger, NL Heard-Costa, JJ Hottenga, B Kühnel, V Kumar, V Lagou, L Liang, J Luan, PM Vidal, I Mateo Leach, PF O'Reilly, JF Peden, N Rahmioglu, P Soininen, EK Speliotes, X Yuan, G Thorleifsson, BZ Alizadeh, LD Atwood, IB Borecki, MJ Brown, P Charoen, F Cucca, D Das, EJ de Geus, AL Dixon, A Döring, G Ehret, GI Eyjolfsson, M Farrall, NG Forouhi, N Friedrich, W Goessling, DF Gudbjartsson, TB Harris, AL Hartikainen, S Heath, GM Hirschfield, A Hofman, G Homuth, E Hyppönen, HL Janssen, T Johnson, AJ Kangas, IP Kema, JP Kühn, S Lai, M Lathrop, MM Lerch, Y Li, TJ Liang, JP Lin, RJ Loos, NG Martin, MF Moffatt, GW Montgomery, PB Munroe, K Musunuru, Y Nakamura, CJ O'Donnell, I Olafsson, BW Penninx, A Pouta, BP Prins, I Prokopenko, R Puls, A Ruokonen, MJ Savolainen, D Schlessinger, JN Schouten, U Seedorf, S Sen-Chowdhry, KA Siminovitch, JH Smit, TD Spector, W Tan, TM Teslovich, T Tukiainen, AG Uitterlinden, MM Van der Klauw, RS Vasan, C Wallace, H Wallaschofski, HE Wichmann, G Willemsen, P Würtz, C Xu, LM Yerges-Armstrong, , , , , , , , GR Abecasis, KR Ahmadi, DI Boomsma, M Caulfield, WO Cookson, CM van Duijn, P Froguel, K Matsuda, MI McCarthy, C Meisinger, V Mooser, KH Pietiläinen, G Schumann, H Snieder, MJ Sternberg, RP Stolk, HC Thomas, U Thorsteinsdottir, M Uda, G Waeber, NJ Wareham, DM Waterworth, H Watkins, JB Whitfield, JC Witteman, BH Wolffenbuttel, CS Fox, M Ala-Korpela, K Stefansson, P Vollenweider, H Völzke, EE Schadt, J Scott, MR Järvelin, P Elliott, JS Kooner
Publication Date: 2011-10-16

Variant appearance in text: rs3812316
PubMed Link: 22001757
Variant Present in the following documents:
  • NIHMS411128-supplement-Supplemental.pdf
View BVdb publication page



A gene-centric association scan for Coagulation Factor VII levels in European and African Americans: the Candidate Gene Association Resource (CARe) Consortium.

Human Molecular Genetics
KC Taylor, LA Lange, D Zabaneh, E Lange, BJ Keating, W Tang, NL Smith, JA Delaney, M Kumari, A Hingorani, KE North, M Kivimaki, RP Tracy, CJ O'Donnell, AR Folsom, D Green, SE Humphries, AP Reiner
Publication Date: 2011-09-01

Variant appearance in text: rs3812316
PubMed Link: 21676895
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three periods of one and a half decade of ischemic stroke susceptibility gene research: lessons we have learned.

Genome Medicine
A Maasz, B Melegh
Publication Date: 2010-09-13

Variant appearance in text: rs3812316
PubMed Link: 20831840
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of obesity and the metabolic syndrome.

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

Variant appearance in text: rs3812316
PubMed Link: 20406164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between a literature-based genetic risk score and cardiovascular events in women.

Jama
NP Paynter, DI Chasman, G Paré, JE Buring, NR Cook, JP Miletich, PM Ridker
Publication Date: 2010-02-17

Variant appearance in text: rs3812316
PubMed Link: 20159871
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: MLXIPL: Gln241His; rs3812316
PubMed Link: 18852197
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in an individual human exome.

Plos Genetics
PC Ng, S Levy, J Huang, TB Stockwell, BP Walenz, K Li, N Axelrod, DA Busam, RL Strausberg, JC Venter
Publication Date: 2008-08-15

Variant appearance in text: rs3812316
PubMed Link: 18704161
Variant Present in the following documents:
  • pgen.1000160.s010.xls
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000313375.3 c.723G>C p.Gln241His missense_variant 6/17 -
ENST00000345114.5 c.723G>C p.Gln241His missense_variant,NMD_transcript_variant 6/16 -
ENST00000354613.1 c.723G>C p.Gln241His missense_variant 6/17 -
ENST00000395189.1 c.526-82G>C - intron_variant - 4/15
ENST00000414749.2 c.723G>C p.Gln241His missense_variant 6/17 -
ENST00000429400.2 c.723G>C p.Gln241His missense_variant 6/17 -
ENST00000434326.1 c.526-82G>C - intron_variant - 4/14
ENST00000453275.1 c.401-6312G>C - intron_variant - 2/3
ENST00000456640.1 c.609G>C p.Gln203His missense_variant 5/5 -
ENST00000476404.1 n.818G>C - non_coding_transcript_exon_variant 1/5 -
ENST00000488212.1 n.252G>C - non_coding_transcript_exon_variant 2/4 -
NM_032951.3 c.723G>C p.Gln241His missense_variant 6/17 -
NM_032952.3 c.723G>C p.Gln241His missense_variant 6/17 -
NM_032953.3 c.723G>C p.Gln241His missense_variant 6/17 -
NM_032954.3 c.723G>C p.Gln241His missense_variant 6/17 -
NR_134541.2 n.753G>C - non_coding_transcript_exon_variant 6/16 -