ZNF101 c.131-7A>G

Variant ID: 19-19789528-A-G

NM_033204.2(ZNF101):c.131-7A>G

This variant was identified in 32 publications

View GRCh38 version.




Publications:


Birthweight, BMI in adulthood and latent autoimmune diabetes in adults: a Mendelian randomisation study.

Diabetologia
Wei, Yuxia Y; Zhan, Yiqiang Y; Löfvenborg, Josefin E JE; Tuomi, Tiinamaija T; Carlsson, Sofia S
Publication Date: 2022-09

Variant appearance in text: rs2304130
PubMed Link: 35606578
Variant Present in the following documents:
  • 125_2022_5725_MOESM1_ESM.pdf
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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2304130
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A shared genetic contribution to breast cancer and schizophrenia.

Nature Communications
Lu, Donghao D; Song, Jie J; Lu, Yi Y; Fall, Katja K; Chen, Xu X; Fang, Fang F; Landén, Mikael M; Hultman, Christina M CM; Czene, Kamila K; Sullivan, Patrick P; Tamimi, Rulla M RM; Valdimarsdóttir, Unnur A UA
Publication Date: 2020-09-15

Variant appearance in text: rs2304130
PubMed Link: 32934226
Variant Present in the following documents:
  • 41467_2020_18492_MOESM1_ESM.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2304130
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide association study of medication-use and associated disease in the UK Biobank.

Nature Communications
Wu, Yeda Y; Byrne, Enda M EM; Zheng, Zhili Z; Kemper, Kathryn E KE; Yengo, Loic L; Mallett, Andrew J AJ; Yang, Jian J; Visscher, Peter M PM; Wray, Naomi R NR
Publication Date: 2019-04-23

Variant appearance in text: rs2304130
PubMed Link: 31015401
Variant Present in the following documents:
  • 41467_2019_9572_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ZNF101: 131-7A>G; rs2304130
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.

Liver International : Official Journal Of The International Association For The Study Of The Liver
Steba, Gaby S GS; Koekkoek, Sylvie M SM; Tanck, Michael W T MWT; Vanhommerig, Joost W JW; van der Meer, Jan T M JTM; Kwa, David D; Brinkman, Kees K; Prins, Maria M; Berkhout, Ben B; Pollakis, Georgios G; Molenkamp, Richard R; Schinkel, Janke J; Paxton, William A WA; ,
Publication Date: 2019-03

Variant appearance in text: rs2304130
PubMed Link: 30260075
Variant Present in the following documents:
  • Main text
  • LIV-39-463.pdf
View BVdb publication page



Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.

International Journal Of Endocrinology
Azam, Afifah Binti AB; Azizan, Elena Aisha Binti EAB
Publication Date: 2018

Variant appearance in text: rs2304130
PubMed Link: 29666641
Variant Present in the following documents:
  • Main text
  • IJE2018-7259704.pdf
View BVdb publication page



Methods for meta-analysis of multiple traits using GWAS summary statistics.

Genetic Epidemiology
Ray, Debashree D; Boehnke, Michael M
Publication Date: 2018-03

Variant appearance in text: rs2304130
PubMed Link: 29226385
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iterative hard thresholding for model selection in genome-wide association studies.

Genetic Epidemiology
Keys, Kevin L KL; Chen, Gary K GK; Lange, Kenneth K
Publication Date: 2017-12

Variant appearance in text: rs2304130
PubMed Link: 28875524
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

Hypertension (Dallas, Tex. : 1979)
Wain, Louise V LV; Vaez, Ahmad A; Jansen, Rick R; Joehanes, Roby R; van der Most, Peter J PJ; Erzurumluoglu, A Mesut AM; O'Reilly, Paul F PF; Cabrera, Claudia P CP; Warren, Helen R HR; Rose, Lynda M LM; Verwoert, Germaine C GC; Hottenga, Jouke-Jan JJ; Strawbridge, Rona J RJ; Esko, Tonu T; Arking, Dan E DE; Hwang, Shih-Jen SJ; Guo, Xiuqing X; Kutalik, Zoltan Z; Trompet, Stella S; Shrine, Nick N; Teumer, Alexander A; Ried, Janina S JS; Bis, Joshua C JC; Smith, Albert V AV; Amin, Najaf N; Nolte, Ilja M IM; Lyytikäinen, Leo-Pekka LP; Mahajan, Anubha A; Wareham, Nicholas J NJ; Hofer, Edith E; Joshi, Peter K PK; Kristiansson, Kati K; Traglia, Michela M; Havulinna, Aki S AS; Goel, Anuj A; Nalls, Mike A MA; Sõber, Siim S; Vuckovic, Dragana D; Luan, Jian'an J; Del Greco M, Fabiola F; Ayers, Kristin L KL; Marrugat, Jaume J; Ruggiero, Daniela D; Lopez, Lorna M LM; Niiranen, Teemu T; Enroth, Stefan S; Jackson, Anne U AU; Nelson, Christopher P CP; Huffman, Jennifer E JE; Zhang, Weihua W; Marten, Jonathan J; Gandin, Ilaria I; Harris, Sarah E SE; Zemunik, Tatijana T; Lu, Yingchang Y; Evangelou, Evangelos E; Shah, Nabi N; de Borst, Martin H MH; Mangino, Massimo M; Prins, Bram P BP; Campbell, Archie A; Li-Gao, Ruifang R; Chauhan, Ganesh G; Oldmeadow, Christopher C; Abecasis, Gonçalo G; Abedi, Maryam M; Barbieri, Caterina M CM; Barnes, Michael R MR; Batini, Chiara C; Beilby, John J; Blake, Tineka T; Boehnke, Michael M; Bottinger, Erwin P EP; Braund, Peter S PS; Brown, Morris M; Brumat, Marco M; Campbell, Harry H; Chambers, John C JC; Cocca, Massimiliano M; Collins, Francis F; Connell, John J; Cordell, Heather J HJ; Damman, Jeffrey J JJ; Davies, Gail G; de Geus, Eco J EJ; de Mutsert, Renée R; Deelen, Joris J; Demirkale, Yusuf Y; Doney, Alex S F ASF; Dörr, Marcus M; Farrall, Martin M; Ferreira, Teresa T; Frånberg, Mattias M; Gao, He H; Giedraitis, Vilmantas V; Gieger, Christian C; Giulianini, Franco F; Gow, Alan J AJ; Hamsten, Anders A; Harris, Tamara B TB; Hofman, Albert A; Holliday, Elizabeth G EG; Hui, Jennie J; Jarvelin, Marjo-Riitta MR; Johansson, Åsa Å; Johnson, Andrew D AD; Jousilahti, Pekka P; Jula, Antti A; Kähönen, Mika M; Kathiresan, Sekar S; Khaw, Kay-Tee KT; Kolcic, Ivana I; Koskinen, Seppo S; Langenberg, Claudia C; Larson, Marty M; Launer, Lenore J LJ; Lehne, Benjamin B; Liewald, David C M DCM; Lin, Li L; Lind, Lars L; Mach, François F; Mamasoula, Chrysovalanto C; Menni, Cristina C; Mifsud, Borbala B; Milaneschi, Yuri Y; Morgan, Anna A; Morris, Andrew D AD; Morrison, Alanna C AC; Munson, Peter J PJ; Nandakumar, Priyanka P; Nguyen, Quang Tri QT; Nutile, Teresa T; Oldehinkel, Albertine J AJ; Oostra, Ben A BA; Org, Elin E; Padmanabhan, Sandosh S; Palotie, Aarno A; Paré, Guillaume G; Pattie, Alison A; Penninx, Brenda W J H BWJH; Poulter, Neil N; Pramstaller, Peter P PP; Raitakari, Olli T OT; Ren, Meixia M; Rice, Kenneth K; Ridker, Paul M PM; Riese, Harriëtte H; Ripatti, Samuli S; Robino, Antonietta A; Rotter, Jerome I JI; Rudan, Igor I; Saba, Yasaman Y; Saint Pierre, Aude A; Sala, Cinzia F CF; Sarin, Antti-Pekka AP; Schmidt, Reinhold R; Scott, Rodney R; Seelen, Marc A MA; Shields, Denis C DC; Siscovick, David D; Sorice, Rossella R; Stanton, Alice A; Stott, David J DJ; Sundström, Johan J; Swertz, Morris M; Taylor, Kent D KD; Thom, Simon S; Tzoulaki, Ioanna I; Tzourio, Christophe C; Uitterlinden, André G AG; Völker, Uwe U; Vollenweider, Peter P; Wild, Sarah S; Willemsen, Gonneke G; Wright, Alan F AF; Yao, Jie J; Thériault, Sébastien S; Conen, David D; Attia, John J; Sever, Peter P; Debette, Stéphanie S; Mook-Kanamori, Dennis O DO; Zeggini, Eleftheria E; Spector, Tim D TD; van der Harst, Pim P; Palmer, Colin N A CNA; Vergnaud, Anne-Claire AC; Loos, Ruth J F RJF; Polasek, Ozren O; Starr, John M JM; Girotto, Giorgia G; Hayward, Caroline C; Kooner, Jaspal S JS; Lindgren, Cecila M CM; Vitart, Veronique V; Samani, Nilesh J NJ; Tuomilehto, Jaakko J; Gyllensten, Ulf U; Knekt, Paul P; Deary, Ian J IJ; Ciullo, Marina M; Elosua, Roberto R; Keavney, Bernard D BD; Hicks, Andrew A AA; Scott, Robert A RA; Gasparini, Paolo P; Laan, Maris M; Liu, YongMei Y; Watkins, Hugh H; Hartman, Catharina A CA; Salomaa, Veikko V; Toniolo, Daniela D; Perola, Markus M; Wilson, James F JF; Schmidt, Helena H; Zhao, Jing Hua JH; Lehtimäki, Terho T; van Duijn, Cornelia M CM; Gudnason, Vilmundur V; Psaty, Bruce M BM; Peters, Annette A; Rettig, Rainer R; James, Alan A; Jukema, J Wouter JW; Strachan, David P DP; Palmas, Walter W; Metspalu, Andres A; Ingelsson, Erik E; Boomsma, Dorret I DI; Franco, Oscar H OH; Bochud, Murielle M; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Elliott, Paul P; Chasman, Daniel I DI; Chakravarti, Aravinda A; Knight, Joanne J; Morris, Andrew P AP; Levy, Daniel D; Tobin, Martin D MD; Snieder, Harold H; Caulfield, Mark J MJ; Ehret, Georg B GB
Publication Date: 2017-07-24

Variant appearance in text: rs2304130
PubMed Link: 28739976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2304130
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V
Publication Date: 2017-06-02

Variant appearance in text: rs2304130
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
  • 12944_2017_Article_488.pdf
View BVdb publication page



The genetic overlap between mood disorders and cardiometabolic diseases: a systematic review of genome wide and candidate gene studies.

Translational Psychiatry
Amare, A T AT; Schubert, K O KO; Klingler-Hoffmann, M M; Cohen-Woods, S S; Baune, B T BT
Publication Date: 2017-01-24

Variant appearance in text: rs2304130
PubMed Link: 28117839
Variant Present in the following documents:
  • Main text
  • tp2016261a.pdf
View BVdb publication page



Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Nature Genetics
Surendran, Praveen P; Drenos, Fotios F; Young, Robin R; Warren, Helen H; Cook, James P JP; Manning, Alisa K AK; Grarup, Niels N; Sim, Xueling X; Barnes, Daniel R DR; Witkowska, Kate K; Staley, James R JR; Tragante, Vinicius V; Tukiainen, Taru T; Yaghootkar, Hanieh H; Masca, Nicholas N; Freitag, Daniel F DF; Ferreira, Teresa T; Giannakopoulou, Olga O; Tinker, Andrew A; Harakalova, Magdalena M; Mihailov, Evelin E; Liu, Chunyu C; Kraja, Aldi T AT; Fallgaard Nielsen, Sune S; Rasheed, Asif A; Samuel, Maria M; Zhao, Wei W; Bonnycastle, Lori L LL; Jackson, Anne U AU; Narisu, Narisu N; Swift, Amy J AJ; Southam, Lorraine L; Marten, Jonathan J; Huyghe, Jeroen R JR; Stančáková, Alena A; Fava, Cristiano C; Ohlsson, Therese T; Matchan, Angela A; Stirrups, Kathleen E KE; Bork-Jensen, Jette J; Gjesing, Anette P AP; Kontto, Jukka J; Perola, Markus M; Shaw-Hawkins, Susan S; Havulinna, Aki S AS; Zhang, He H; Donnelly, Louise A LA; Groves, Christopher J CJ; Rayner, N William NW; Neville, Matt J MJ; Robertson, Neil R NR; Yiorkas, Andrianos M AM; Herzig, Karl-Heinz KH; Kajantie, Eero E; Zhang, Weihua W; Willems, Sara M SM; Lannfelt, Lars L; Malerba, Giovanni G; Soranzo, Nicole N; Trabetti, Elisabetta E; Verweij, Niek N; Evangelou, Evangelos E; Moayyeri, Alireza A; Vergnaud, Anne-Claire AC; Nelson, Christopher P CP; Poveda, Alaitz A; Varga, Tibor V TV; Caslake, Muriel M; de Craen, Anton Jm AJ; Trompet, Stella S; Luan, Jian'an J; Scott, Robert A RA; Harris, Sarah E SE; Liewald, David Cm DC; Marioni, Riccardo R; Menni, Cristina C; Farmaki, Aliki-Eleni AE; Hallmans, Göran G; Renström, Frida F; Huffman, Jennifer E JE; Hassinen, Maija M; Burgess, Stephen S; Vasan, Ramachandran S RS; Felix, Janine F JF; , ; Uria-Nickelsen, Maria M; Malarstig, Anders A; Reily, Dermot F DF; Hoek, Maarten M; Vogt, Thomas T; Lin, Honghuang H; Lieb, Wolfgang W; , ; Traylor, Matthew M; Markus, Hugh F HF; , ; Highland, Heather M HM; Justice, Anne E AE; Marouli, Eirini E; , ; Lindström, Jaana J; Uusitupa, Matti M; Komulainen, Pirjo P; Lakka, Timo A TA; Rauramaa, Rainer R; Polasek, Ozren O; Rudan, Igor I; Rolandsson, Olov O; Franks, Paul W PW; Dedoussis, George G; Spector, Timothy D TD; , ; Jousilahti, Pekka P; Männistö, Satu S; Deary, Ian J IJ; Starr, John M JM; Langenberg, Claudia C; Wareham, Nick J NJ; Brown, Morris J MJ; Dominiczak, Anna F AF; Connell, John M JM; Jukema, J Wouter JW; Sattar, Naveed N; Ford, Ian I; Packard, Chris J CJ; Esko, Tõnu T; Mägi, Reedik R; Metspalu, Andres A; de Boer, Rudolf A RA; van der Meer, Peter P; van der Harst, Pim P; , ; Gambaro, Giovanni G; Ingelsson, Erik E; Lind, Lars L; de Bakker, Paul Iw PI; Numans, Mattijs E ME; Brandslund, Ivan I; Christensen, Cramer C; Petersen, Eva Rb ER; Korpi-Hyövälti, Eeva E; Oksa, Heikki H; Chambers, John C JC; Kooner, Jaspal S JS; Blakemore, Alexandra If AI; Franks, Steve S; Jarvelin, Marjo-Riitta MR; Husemoen, Lise L LL; Linneberg, Allan A; Skaaby, Tea T; Thuesen, Betina B; Karpe, Fredrik F; Tuomilehto, Jaakko J; Doney, Alex Sf AS; Morris, Andrew D AD; Palmer, Colin Na CN; Holmen, Oddgeir Lingaas OL; Hveem, Kristian K; Willer, Cristen J CJ; Tuomi, Tiinamaija T; Groop, Leif L; Käräjämäki, AnneMari A; Palotie, Aarno A; Ripatti, Samuli S; Salomaa, Veikko V; Alam, Dewan S DS; Shafi Majumder, Abdulla Al AA; Di Angelantonio, Emanuele E; Chowdhury, Rajiv R; McCarthy, Mark I MI; Poulter, Neil N; Stanton, Alice V AV; Sever, Peter P; Amouyel, Philippe P; Arveiler, Dominique D; Blankenberg, Stefan S; Ferrières, Jean J; Kee, Frank F; Kuulasmaa, Kari K; Müller-Nurasyid, Martina M; Veronesi, Giovanni G; Virtamo, Jarmo J; Deloukas, Panos P; , ; Elliott, Paul P; , ; Zeggini, Eleftheria E; Kathiresan, Sekar S; Melander, Olle O; Kuusisto, Johanna J; Laakso, Markku M; Padmanabhan, Sandosh S; Porteous, David D; Hayward, Caroline C; Scotland, Generation G; Collins, Francis S FS; Mohlke, Karen L KL; Hansen, Torben T; Pedersen, Oluf O; Boehnke, Michael M; Stringham, Heather M HM; , ; Frossard, Philippe P; Newton-Cheh, Christopher C; , ; Tobin, Martin D MD; Nordestgaard, Børge Grønne BG; , ; , ; , ; , ; Caulfield, Mark J MJ; Mahajan, Anubha A; Morris, Andrew P AP; Tomaszewski, Maciej M; Samani, Nilesh J NJ; Saleheen, Danish D; Asselbergs, Folkert W FW; Lindgren, Cecilia M CM; Danesh, John J; Wain, Louise V LV; Butterworth, Adam S AS; Howson, Joanna Mm JM; Munroe, Patricia B PB
Publication Date: 2016-10

Variant appearance in text: rs2304130
PubMed Link: 27618447
Variant Present in the following documents:
  • Main text
  • NIHMS69533-supplement-Supplementary_Tables.xlsx, sheet 16
  • NIHMS69533-supplement-Supplementary_Tables.xlsx, sheet 5
View BVdb publication page



Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P
Publication Date: 2016-09-15

Variant appearance in text: rs2304130
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multivariable Mendelian randomization: the use of pleiotropic genetic variants to estimate causal effects.

American Journal Of Epidemiology
Burgess, Stephen S; Thompson, Simon G SG
Publication Date: 2015-02-15

Variant appearance in text: rs2304130
PubMed Link: 25632051
Variant Present in the following documents:
  • Main text
  • kwu283.pdf
  • supp_kwu283_kwu283supp.pdf
View BVdb publication page



Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Plos Genetics
Service, Susan K SK; Teslovich, Tanya M TM; Fuchsberger, Christian C; Ramensky, Vasily V; Yajnik, Pranav P; Koboldt, Daniel C DC; Larson, David E DE; Zhang, Qunyuan Q; Lin, Ling L; Welch, Ryan R; Ding, Li L; McLellan, Michael D MD; O'Laughlin, Michele M; Fronick, Catrina C; Fulton, Lucinda L LL; Magrini, Vincent V; Swift, Amy A; Elliott, Paul P; Jarvelin, Marjo-Riitta MR; Kaakinen, Marika M; McCarthy, Mark I MI; Peltonen, Leena L; Pouta, Anneli A; Bonnycastle, Lori L LL; Collins, Francis S FS; Narisu, Narisu N; Stringham, Heather M HM; Tuomilehto, Jaakko J; Ripatti, Samuli S; Fulton, Robert S RS; Sabatti, Chiara C; Wilson, Richard K RK; Boehnke, Michael M; Freimer, Nelson B NB
Publication Date: 2014-01

Variant appearance in text: rs2304130
PubMed Link: 24497850
Variant Present in the following documents:
  • Main text
  • pgen.1004147.pdf
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Congruence of additive and non-additive effects on gene expression estimated from pedigree and SNP data.

Plos Genetics
Powell, Joseph E JE; Henders, Anjali K AK; McRae, Allan F AF; Kim, Jinhee J; Hemani, Gibran G; Martin, Nicholas G NG; Dermitzakis, Emmanouil T ET; Gibson, Greg G; Montgomery, Grant W GW; Visscher, Peter M PM
Publication Date: 2013-05

Variant appearance in text: rs2304130
PubMed Link: 23696747
Variant Present in the following documents:
  • Main text
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Association analysis of dyslipidemia-related genes in diabetic nephropathy.

Plos One
McKay, Gareth J GJ; Savage, David A DA; Patterson, Christopher C CC; Lewis, Gareth G; McKnight, Amy Jayne AJ; Maxwell, Alexander P AP; ,
Publication Date: 2013

Variant appearance in text: rs2304130
PubMed Link: 23555584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single nucleotide polymorphisms (SNPs) involved in insulin resistance, weight regulation, lipid metabolism and inflammation in relation to metabolic syndrome: an epidemiological study.

Cardiovascular Diabetology
Povel, Cécile M CM; Boer, Jolanda M A JM; Onland-Moret, N Charlotte NC; Dollé, Martijn E T ME; Feskens, Edith J M EJ; van der Schouw, Yvonne T YT
Publication Date: 2012-10-29

Variant appearance in text: rs2304130
PubMed Link: 23101478
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mapping cis- and trans-regulatory effects across multiple tissues in twins.

Nature Genetics
Grundberg, Elin E; Small, Kerrin S KS; Hedman, Åsa K ÅK; Nica, Alexandra C AC; Buil, Alfonso A; Keildson, Sarah S; Bell, Jordana T JT; Yang, Tsun-Po TP; Meduri, Eshwar E; Barrett, Amy A; Nisbett, James J; Sekowska, Magdalena M; Wilk, Alicja A; Shin, So-Youn SY; Glass, Daniel D; Travers, Mary M; Min, Josine L JL; Ring, Sue S; Ho, Karen K; Thorleifsson, Gudmar G; Kong, Augustine A; Thorsteindottir, Unnur U; Ainali, Chrysanthi C; Dimas, Antigone S AS; Hassanali, Neelam N; Ingle, Catherine C; Knowles, David D; Krestyaninova, Maria M; Lowe, Christopher E CE; Di Meglio, Paola P; Montgomery, Stephen B SB; Parts, Leopold L; Potter, Simon S; Surdulescu, Gabriela G; Tsaprouni, Loukia L; Tsoka, Sophia S; Bataille, Veronique V; Durbin, Richard R; Nestle, Frank O FO; O'Rahilly, Stephen S; Soranzo, Nicole N; Lindgren, Cecilia M CM; Zondervan, Krina T KT; Ahmadi, Kourosh R KR; Schadt, Eric E EE; Stefansson, Kari K; Smith, George Davey GD; McCarthy, Mark I MI; Deloukas, Panos P; Dermitzakis, Emmanouil T ET; Spector, Tim D TD; ,
Publication Date: 2012-10

Variant appearance in text: rs2304130
PubMed Link: 22941192
Variant Present in the following documents:
  • Main text
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Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

Nature Genetics
Morris, Andrew P AP; Voight, Benjamin F BF; Teslovich, Tanya M TM; Ferreira, Teresa T; Segrè, Ayellet V AV; Steinthorsdottir, Valgerdur V; Strawbridge, Rona J RJ; Khan, Hassan H; Grallert, Harald H; Mahajan, Anubha A; Prokopenko, Inga I; Kang, Hyun Min HM; Dina, Christian C; Esko, Tonu T; Fraser, Ross M RM; Kanoni, Stavroula S; Kumar, Ashish A; Lagou, Vasiliki V; Langenberg, Claudia C; Luan, Jian'an J; Lindgren, Cecilia M CM; Müller-Nurasyid, Martina M; Pechlivanis, Sonali S; Rayner, N William NW; Scott, Laura J LJ; Wiltshire, Steven S; Yengo, Loic L; Kinnunen, Leena L; Rossin, Elizabeth J EJ; Raychaudhuri, Soumya S; Johnson, Andrew D AD; Dimas, Antigone S AS; Loos, Ruth J F RJ; Vedantam, Sailaja S; Chen, Han H; Florez, Jose C JC; Fox, Caroline C; Liu, Ching-Ti CT; Rybin, Denis D; Couper, David J DJ; Kao, Wen Hong L WH; Li, Man M; Cornelis, Marilyn C MC; Kraft, Peter P; Sun, Qi Q; van Dam, Rob M RM; Stringham, Heather M HM; Chines, Peter S PS; Fischer, Krista K; Fontanillas, Pierre P; Holmen, Oddgeir L OL; Hunt, Sarah E SE; Jackson, Anne U AU; Kong, Augustine A; Lawrence, Robert R; Meyer, Julia J; Perry, John R B JR; Platou, Carl G P CG; Potter, Simon S; Rehnberg, Emil E; Robertson, Neil N; Sivapalaratnam, Suthesh S; Stančáková, Alena A; Stirrups, Kathleen K; Thorleifsson, Gudmar G; Tikkanen, Emmi E; Wood, Andrew R AR; Almgren, Peter P; Atalay, Mustafa M; Benediktsson, Rafn R; Bonnycastle, Lori L LL; Burtt, Noël N; Carey, Jason J; Charpentier, Guillaume G; Crenshaw, Andrew T AT; Doney, Alex S F AS; Dorkhan, Mozhgan M; Edkins, Sarah S; Emilsson, Valur V; Eury, Elodie E; Forsen, Tom T; Gertow, Karl K; Gigante, Bruna B; Grant, George B GB; Groves, Christopher J CJ; Guiducci, Candace C; Herder, Christian C; Hreidarsson, Astradur B AB; Hui, Jennie J; James, Alan A; Jonsson, Anna A; Rathmann, Wolfgang W; Klopp, Norman N; Kravic, Jasmina J; Krjutškov, Kaarel K; Langford, Cordelia C; Leander, Karin K; Lindholm, Eero E; Lobbens, Stéphane S; Männistö, Satu S; Mirza, Ghazala G; Mühleisen, Thomas W TW; Musk, Bill B; Parkin, Melissa M; Rallidis, Loukianos L; Saramies, Jouko J; Sennblad, Bengt B; Shah, Sonia S; Sigurðsson, Gunnar G; Silveira, Angela A; Steinbach, Gerald G; Thorand, Barbara B; Trakalo, Joseph J; Veglia, Fabrizio F; Wennauer, Roman R; Winckler, Wendy W; Zabaneh, Delilah D; Campbell, Harry H; van Duijn, Cornelia C; Uitterlinden, Andre G AG; Hofman, Albert A; Sijbrands, Eric E; Abecasis, Goncalo R GR; Owen, Katharine R KR; Zeggini, Eleftheria E; Trip, Mieke D MD; Forouhi, Nita G NG; Syvänen, Ann-Christine AC; Eriksson, Johan G JG; Peltonen, Leena L; Nöthen, Markus M MM; Balkau, Beverley B; Palmer, Colin N A CN; Lyssenko, Valeriya V; Tuomi, Tiinamaija T; Isomaa, Bo B; Hunter, David J DJ; Qi, Lu L; , ; , ; , ; , ; , ; Shuldiner, Alan R AR; Roden, Michael M; Barroso, Ines I; Wilsgaard, Tom T; Beilby, John J; Hovingh, Kees K; Price, Jackie F JF; Wilson, James F JF; Rauramaa, Rainer R; Lakka, Timo A TA; Lind, Lars L; Dedoussis, George G; Njølstad, Inger I; Pedersen, Nancy L NL; Khaw, Kay-Tee KT; Wareham, Nicholas J NJ; Keinanen-Kiukaanniemi, Sirkka M SM; Saaristo, Timo E TE; Korpi-Hyövälti, Eeva E; Saltevo, Juha J; Laakso, Markku M; Kuusisto, Johanna J; Metspalu, Andres A; Collins, Francis S FS; Mohlke, Karen L KL; Bergman, Richard N RN; Tuomilehto, Jaakko J; Boehm, Bernhard O BO; Gieger, Christian C; Hveem, Kristian K; Cauchi, Stephane S; Froguel, Philippe P; Baldassarre, Damiano D; Tremoli, Elena E; Humphries, Steve E SE; Saleheen, Danish D; Danesh, John J; Ingelsson, Erik E; Ripatti, Samuli S; Salomaa, Veikko V; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Moebus, Susanne S; Peters, Annette A; Illig, Thomas T; de Faire, Ulf U; Hamsten, Anders A; Morris, Andrew D AD; Donnelly, Peter J PJ; Frayling, Timothy M TM; Hattersley, Andrew T AT; Boerwinkle, Eric E; Melander, Olle O; Kathiresan, Sekar S; Nilsson, Peter M PM; Deloukas, Panos P; Thorsteinsdottir, Unnur U; Groop, Leif C LC; Stefansson, Kari K; Hu, Frank F; Pankow, James S JS; Dupuis, Josée J; Meigs, James B JB; Altshuler, David D; Boehnke, Michael M; McCarthy, Mark I MI; ,
Publication Date: 2012-09

Variant appearance in text: rs2304130
PubMed Link: 22885922
Variant Present in the following documents:
  • NIHMS49214-supplement-2.pdf
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Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics.

Biological Research For Nursing
Imes, Christopher C CC; Austin, Melissa A MA
Publication Date: 2013-07

Variant appearance in text: rs2304130
PubMed Link: 22531366
Variant Present in the following documents:
  • Main text
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Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.

Neurobiology Of Disease
Hernandez, Dena G DG; Nalls, Mike A MA; Moore, Matthew M; Chong, Sean S; Dillman, Allissa A; Trabzuni, Daniah D; Gibbs, J Raphael JR; Ryten, Mina M; Arepalli, Sampath S; Weale, Michael E ME; Zonderman, Alan B AB; Troncoso, Juan J; O'Brien, Richard R; Walker, Robert R; Smith, Colin C; Bandinelli, Stefania S; Traynor, Bryan J BJ; Hardy, John J; Singleton, Andrew B AB; Cookson, Mark R MR
Publication Date: 2012-07

Variant appearance in text: rs2304130
PubMed Link: 22433082
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.

Plos Genetics
Demirkan, Ayşe A; van Duijn, Cornelia M CM; Ugocsai, Peter P; Isaacs, Aaron A; Pramstaller, Peter P PP; Liebisch, Gerhard G; Wilson, James F JF; Johansson, Åsa Å; Rudan, Igor I; Aulchenko, Yurii S YS; Kirichenko, Anatoly V AV; Janssens, A Cecile J W AC; Jansen, Ritsert C RC; Gnewuch, Carsten C; Domingues, Francisco S FS; Pattaro, Cristian C; Wild, Sarah H SH; Jonasson, Inger I; Polasek, Ozren O; Zorkoltseva, Irina V IV; Hofman, Albert A; Karssen, Lennart C LC; Struchalin, Maksim M; Floyd, James J; Igl, Wilmar W; Biloglav, Zrinka Z; Broer, Linda L; Pfeufer, Arne A; Pichler, Irene I; Campbell, Susan S; Zaboli, Ghazal G; Kolcic, Ivana I; Rivadeneira, Fernando F; Huffman, Jennifer J; Hastie, Nicholas D ND; Uitterlinden, Andre A; Franke, Lude L; Franklin, Christopher S CS; Vitart, Veronique V; , ; Nelson, Christopher P CP; Preuss, Michael M; , ; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Franceschini, Nora N; , ; Witteman, Jacqueline C M JC; Axenovich, Tatiana T; Oostra, Ben A BA; Meitinger, Thomas T; Hicks, Andrew A AA; Hayward, Caroline C; Wright, Alan F AF; Gyllensten, Ulf U; Campbell, Harry H; Schmitz, Gerd G; ,
Publication Date: 2012

Variant appearance in text: rs2304130
PubMed Link: 22359512
Variant Present in the following documents:
  • Main text
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Association of genetic loci with blood lipids in the Chinese population.

Plos One
Zhang, Zhou Z; Tao, Liming L; Chen, Zhuo Z; Zhou, Daizhan D; Kan, Mengyuan M; Zhang, Di D; Li, Can C; He, Lin L; Liu, Yun Y
Publication Date: 2011

Variant appearance in text: rs2304130
PubMed Link: 22073310
Variant Present in the following documents:
  • Main text
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Evaluation of the global association between cholesterol-associated polymorphisms and Alzheimer's disease suggests a role for rs3846662 and HMGCR splicing in disease risk.

Molecular Neurodegeneration
Simmons, Christopher R CR; Zou, Fanggeng F; Younkin, Steven G SG; Estus, Steven S
Publication Date: 2011-08-25

Variant appearance in text: rs2304130
PubMed Link: 21867541
Variant Present in the following documents:
  • Main text
  • 1750-1326-6-62.pdf
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Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
Jeemon, Panniyammakal P; Pettigrew, Kerry K; Sainsbury, Christopher C; Prabhakaran, Dorairaj D; Padmanabhan, Sandosh S
Publication Date: 2011-07-26

Variant appearance in text: rs2304130
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
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Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Waterworth, Dawn M DM; Ricketts, Sally L SL; Song, Kijoung K; Chen, Li L; Zhao, Jing Hua JH; Ripatti, Samuli S; Aulchenko, Yurii S YS; Zhang, Weihua W; Yuan, Xin X; Lim, Noha N; Luan, Jian'an J; Ashford, Sofie S; Wheeler, Eleanor E; Young, Elizabeth H EH; Hadley, David D; Thompson, John R JR; Braund, Peter S PS; Johnson, Toby T; Struchalin, Maksim M; Surakka, Ida I; Luben, Robert R; Khaw, Kay-Tee KT; Rodwell, Sheila A SA; Loos, Ruth J F RJ; Boekholdt, S Matthijs SM; Inouye, Michael M; Deloukas, Panagiotis P; Elliott, Paul P; Schlessinger, David D; Sanna, Serena S; Scuteri, Angelo A; Jackson, Anne A; Mohlke, Karen L KL; Tuomilehto, Jaako J; Roberts, Robert R; Stewart, Alexandre A; Kesäniemi, Y Antero YA; Mahley, Robert W RW; Grundy, Scott M SM; , ; McArdle, Wendy W; Cardon, Lon L; Waeber, Gérard G; Vollenweider, Peter P; Chambers, John C JC; Boehnke, Michael M; Abecasis, Gonçalo R GR; Salomaa, Veikko V; Järvelin, Marjo-Riitta MR; Ruokonen, Aimo A; Barroso, Inês I; Epstein, Stephen E SE; Hakonarson, Hakon H HH; Rader, Daniel J DJ; Reilly, Muredach P MP; Witteman, Jacqueline C M JC; Hall, Alistair S AS; Samani, Nilesh J NJ; Strachan, David P DP; Barter, Philip P; van Duijn, Cornelia M CM; Kooner, Jaspal S JS; Peltonen, Leena L; Wareham, Nicholas J NJ; McPherson, Ruth R; Mooser, Vincent V; Sandhu, Manjinder S MS
Publication Date: 2010-11

Variant appearance in text: rs2304130
PubMed Link: 20864672
Variant Present in the following documents:
  • Main text
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Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.

Plos Genetics
Smith, Erin N EN; Chen, Wei W; Kähönen, Mika M; Kettunen, Johannes J; Lehtimäki, Terho T; Peltonen, Leena L; Raitakari, Olli T OT; Salem, Rany M RM; Schork, Nicholas J NJ; Shaw, Marian M; Srinivasan, Sathanur R SR; Topol, Eric J EJ; Viikari, Jorma S JS; Berenson, Gerald S GS; Murray, Sarah S SS
Publication Date: 2010-09-09

Variant appearance in text: rs2304130
PubMed Link: 20838585
Variant Present in the following documents:
  • Main text
  • pgen.1001094.pdf
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Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Nature Genetics
Aulchenko, Yurii S YS; Ripatti, Samuli S; Lindqvist, Ida I; Boomsma, Dorret D; Heid, Iris M IM; Pramstaller, Peter P PP; Penninx, Brenda W J H BW; Janssens, A Cecile J W AC; Wilson, James F JF; Spector, Tim T; Martin, Nicholas G NG; Pedersen, Nancy L NL; Kyvik, Kirsten Ohm KO; Kaprio, Jaakko J; Hofman, Albert A; Freimer, Nelson B NB; Jarvelin, Marjo-Riitta MR; Gyllensten, Ulf U; Campbell, Harry H; Rudan, Igor I; Johansson, Asa A; Marroni, Fabio F; Hayward, Caroline C; Vitart, Veronique V; Jonasson, Inger I; Pattaro, Cristian C; Wright, Alan A; Hastie, Nick N; Pichler, Irene I; Hicks, Andrew A AA; Falchi, Mario M; Willemsen, Gonneke G; Hottenga, Jouke-Jan JJ; de Geus, Eco J C EJ; Montgomery, Grant W GW; Whitfield, John J; Magnusson, Patrik P; Saharinen, Juha J; Perola, Markus M; Silander, Kaisa K; Isaacs, Aaron A; Sijbrands, Eric J G EJ; Uitterlinden, Andre G AG; Witteman, Jacqueline C M JC; Oostra, Ben A BA; Elliott, Paul P; Ruokonen, Aimo A; Sabatti, Chiara C; Gieger, Christian C; Meitinger, Thomas T; Kronenberg, Florian F; Döring, Angela A; Wichmann, H-Erich HE; Smit, Johannes H JH; McCarthy, Mark I MI; van Duijn, Cornelia M CM; Peltonen, Leena L; ,
Publication Date: 2009-01

Variant appearance in text: rs2304130
PubMed Link: 19060911
Variant Present in the following documents:
  • Main text
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