ABO c.28+3981G>A

Variant ID: 9-136146597-C-T

NM_020469.2(ABO):c.28+3981G>A

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Genetically proxied impaired GIPR signaling and risk of 6 cancers.

Iscience
Rogers, Miranda M; Gill, Dipender D; Ahlqvist, Emma E; Robinson, Tim T; Mariosa, Daniela D; Johansson, Mattias M; Cortez Cardoso Penha, Ricardo R; Dossus, Laure L; Gunter, Marc J MJ; Moreno, Victor V; Davey Smith, George G; Martin, Richard M RM; Yarmolinsky, James J
Publication Date: 2023-06-16

Variant appearance in text: rs550057
PubMed Link: 37250804
Variant Present in the following documents:
  • mmc7.xlsx, sheet 1
View BVdb publication page



Title: Serious COVID-19 may have a causal relationship with myocardial injury: A Mendelian randomization study.

Frontiers In Genetics
Liu, Mei Jia MJ; Sun, Xue Qing XQ; Li, Long Bo LB; Wang, Guan G; Shi, Yong Feng YF
Publication Date: 2023

Variant appearance in text: rs550057
PubMed Link: 37035726
Variant Present in the following documents:
  • Main text
  • fgene-14-1135887.pdf
View BVdb publication page



Detailed stratified GWAS analysis for severe COVID-19 in four European populations.

Human Molecular Genetics
Degenhardt, Frauke F; Ellinghaus, David D; Juzenas, Simonas S; Lerga-Jaso, Jon J; Wendorff, Mareike M; Maya-Miles, Douglas D; Uellendahl-Werth, Florian F; ElAbd, Hesham H; Rühlemann, Malte C MC; Arora, Jatin J; Özer, Onur O; Lenning, Ole Bernt OB; Myhre, Ronny R; Vadla, May Sissel MS; Wacker, Eike M EM; Wienbrandt, Lars L; Blandino Ortiz, Aaron A; de Salazar, Adolfo A; Garrido Chercoles, Adolfo A; Palom, Adriana A; Ruiz, Agustín A; Garcia-Fernandez, Alba-Estela AE; Blanco-Grau, Albert A; Mantovani, Alberto A; Zanella, Alberto A; Holten, Aleksander Rygh AR; Mayer, Alena A; Bandera, Alessandra A; Cherubini, Alessandro A; Protti, Alessandro A; Aghemo, Alessio A; Gerussi, Alessio A; Ramirez, Alfredo A; Braun, Alice A; Nebel, Almut A; Barreira, Ana A; Lleo, Ana A; Teles, Ana A; Kildal, Anders Benjamin AB; Biondi, Andrea A; Caballero-Garralda, Andrea A; Ganna, Andrea A; Gori, Andrea A; Glück, Andreas A; Lind, Andreas A; Tanck, Anja A; Hinney, Anke A; Carreras Nolla, Anna A; Fracanzani, Anna Ludovica AL; Peschuck, Anna A; Cavallero, Annalisa A; Dyrhol-Riise, Anne Ma AM; Ruello, Antonella A; Julià, Antonio A; Muscatello, Antonio A; Pesenti, Antonio A; Voza, Antonio A; Rando-Segura, Ariadna A; Solier, Aurora A; Schmidt, Axel A; Cortes, Beatriz B; Mateos, Beatriz B; Nafria-Jimenez, Beatriz B; Schaefer, Benedikt B; Jensen, Björn B; Bellinghausen, Carla C; Maj, Carlo C; Ferrando, Carlos C; de la Horra, Carmen C; Quereda, Carmen C; Skurk, Carsten C; Thibeault, Charlotte C; Scollo, Chiara C; Herr, Christian C; Spinner, Christoph D CD; Gassner, Christoph C; Lange, Christoph C; Hu, Cinzia C; Paccapelo, Cinzia C; Lehmann, Clara C; Angelini, Claudio C; Cappadona, Claudio C; Azuure, Clinton C; , ; Bianco, Cristiana C; Cea, Cristina C; Sancho, Cristina C; Hoff, Dag Arne Lihaug DAL; Galimberti, Daniela D; Prati, Daniele D; Haschka, David D; Jiménez, David D; Pestaña, David D; Toapanta, David D; Muñiz-Diaz, Eduardo E; Azzolini, Elena E; Sandoval, Elena E; Binatti, Eleonora E; Scarpini, Elio E; Helbig, Elisa T ET; Casalone, Elisabetta E; Urrechaga, Eloisa E; Paraboschi, Elvezia Maria EM; Pontali, Emanuele E; Reverter, Enric E; Calderón, Enrique J EJ; Navas, Enrique E; Solligård, Erik E; Contro, Ernesto E; Arana-Arri, Eunate E; Aziz, Fátima F; Garcia, Federico F; García Sánchez, Félix F; Ceriotti, Ferruccio F; Martinelli-Boneschi, Filippo F; Peyvandi, Flora F; Kurth, Florian F; Blasi, Francesco F; Malvestiti, Francesco F; Medrano, Francisco J FJ; Mesonero, Francisco F; Rodriguez-Frias, Francisco F; Hanses, Frank F; Müller, Fredrik F; Hemmrich-Stanisak, Georg G; Bellani, Giacomo G; Grasselli, Giacomo G; Pezzoli, Gianni G; Costantino, Giorgio G; Albano, Giovanni G; Cardamone, Giulia G; Bellelli, Giuseppe G; Citerio, Giuseppe G; Foti, Giuseppe G; Lamorte, Giuseppe G; Matullo, Giuseppe G; Baselli, Guido G; Kurihara, Hayato H; Neb, Holger H; My, Ilaria I; Kurth, Ingo I; Hernández, Isabel I; Pink, Isabell I; de Rojas, Itziar I; Galván-Femenia, Iván I; Holter, Jan Cato JC; Afset, Jan Egil JE; Heyckendorf, Jan J; Kässens, Jan J; Damås, Jan Kristian JK; Rybniker, Jan J; Altmüller, Janine J; Ampuero, Javier J; Martín, Javier J; Erdmann, Jeanette J; Banales, Jesus M JM; Badia, Joan Ramon JR; Dopazo, Joaquin J; Schneider, Jochen J; Bergan, Jonas J; Barretina, Jordi J; Walter, Jörn J; Hernández Quero, Jose J; Goikoetxea, Josune J; Delgado, Juan J; Guerrero, Juan M JM; Fazaal, Julia J; Kraft, Julia J; Schröder, Julia J; Risnes, Kari K; Banasik, Karina K; Müller, Karl Erik KE; Gaede, Karoline I KI; Garcia-Etxebarria, Koldo K; Tonby, Kristian K; Heggelund, Lars L; Izquierdo-Sanchez, Laura L; Bettini, Laura Rachele LR; Sumoy, Lauro L; Sander, Leif Erik LE; Lippert, Lena J LJ; Terranova, Leonardo L; Nkambule, Lindokuhle L; Knopp, Lisa L; Gustad, Lise Tuset LT; Garbarino, Lucia L; Santoro, Luigi L; Téllez, Luis L; Roade, Luisa L; Ostadreza, Mahnoosh M; Intxausti, Maider M; Kogevinas, Manolis M; Riveiro-Barciela, Mar M; Berger, Marc M MM; Schaefer, Marco M; Niemi, Mari E K MEK; Gutiérrez-Stampa, María A MA; Carrabba, Maria M; Figuera Basso, Maria E ME; Valsecchi, Maria Grazia MG; Hernandez-Tejero, María M; Vehreschild, Maria J G T MJGT; Manunta, Maria M; Acosta-Herrera, Marialbert M; D'Angiò, Mariella M; Baldini, Marina M; Cazzaniga, Marina M; Grimsrud, Marit M MM; Cornberg, Markus M; Nöthen, Markus M MM; Marquié, Marta M; Castoldi, Massimo M; Cordioli, Mattia M; Cecconi, Maurizio M; D'Amato, Mauro M; Augustin, Max M; Tomasi, Melissa M; Boada, Mercè M; Dreher, Michael M; Seilmaier, Michael J MJ; Joannidis, Michael M; Wittig, Michael M; Mazzocco, Michela M; Ciccarelli, Michele M; Rodríguez-Gandía, Miguel M; Bocciolone, Monica M; Miozzo, Monica M; Imaz Ayo, Natale N; Blay, Natalia N; Chueca, Natalia N; Montano, Nicola N; Braun, Nicole N; Ludwig, Nicole N; Marx, Nikolaus N; Martínez, Nilda N; , ; Cornely, Oliver A OA; Witzke, Oliver O; Palmieri, Orazio O; , ; Faverio, Paola P; Preatoni, Paoletta P; Bonfanti, Paolo P; Omodei, Paolo P; Tentorio, Paolo P; Castro, Pedro P; Rodrigues, Pedro M PM; España, Pedro Pablo PP; Hoffmann, Per P; Rosenstiel, Philip P; Schommers, Philipp P; Suwalski, Phillip P; de Pablo, Raúl R; Ferrer, Ricard R; Bals, Robert R; Gualtierotti, Roberta R; Gallego-Durán, Rocío R; Nieto, Rosa R; Carpani, Rossana R; Morilla, Rubén R; Badalamenti, Salvatore S; Haider, Sammra S; Ciesek, Sandra S; May, Sandra S; Bombace, Sara S; Marsal, Sara S; Pigazzini, Sara S; Klein, Sebastian S; Pelusi, Serena S; Wilfling, Sibylle S; Bosari, Silvano S; Volland, Sonja S; Brunak, Søren S; Raychaudhuri, Soumya S; Schreiber, Stefan S; Heilmann-Heimbach, Stefanie S; Aliberti, Stefano S; Ripke, Stephan S; Dudman, Susanne S; Wesse, Tanja T; Zheng, Tenghao T; , ; Bahmer, Thomas T; Eggermann, Thomas T; Illig, Thomas T; Brenner, Thorsten T; Pumarola, Tomas T; Feldt, Torsten T; Folseraas, Trine T; Gonzalez Cejudo, Trinidad T; Landmesser, Ulf U; Protzer, Ulrike U; Hehr, Ute U; Rimoldi, Valeria V; Monzani, Valter V; Skogen, Vegard V; Keitel, Verena V; Kopfnagel, Verena V; Friaza, Vicente V; Andrade, Victor V; Moreno, Victor V; Albrecht, Wolfgang W; Peter, Wolfgang W; Poller, Wolfgang W; Farre, Xavier X; Yi, Xiaoli X; Wang, Xiaomin X; Khodamoradi, Yascha Y; Karadeniz, Zehra Z; Latiano, Anna A; Goerg, Siegfried S; Bacher, Petra P; Koehler, Philipp P; Tran, Florian F; Zoller, Heinz H; Schulte, Eva C EC; Heidecker, Bettina B; Ludwig, Kerstin U KU; Fernández, Javier J; Romero-Gómez, Manuel M; Albillos, Agustín A; Invernizzi, Pietro P; Buti, Maria M; Duga, Stefano S; Bujanda, Luis L; Hov, Johannes R JR; Lenz, Tobias L TL; Asselta, Rosanna R; de Cid, Rafael R; Valenti, Luca L; Karlsen, Tom H TH; Cáceres, Mario M; Franke, Andre A
Publication Date: 2022-11-28

Variant appearance in text: rs550057
PubMed Link: 35848942
Variant Present in the following documents:
  • Main text
  • ddac158.pdf
View BVdb publication page



Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.

Nature Genetics
Ebler, Jana J; Ebert, Peter P; Clarke, Wayne E WE; Rausch, Tobias T; Audano, Peter A PA; Houwaart, Torsten T; Mao, Yafei Y; Korbel, Jan O JO; Eichler, Evan E EE; Zody, Michael C MC; Dilthey, Alexander T AT; Marschall, Tobias T
Publication Date: 2022-04

Variant appearance in text: rs550057
PubMed Link: 35410384
Variant Present in the following documents:
  • 41588_2022_Article_1043.pdf
View BVdb publication page



Shared Genetic Basis and Causal Relationship Between Television Watching, Breakfast Skipping and Type 2 Diabetes: Evidence From a Comprehensive Genetic Analysis.

Frontiers In Endocrinology
Chen, Dongze D; Wu, Hanyu H; Wang, Xinpei X; Huang, Tao T; Jia, Jinzhu J
Publication Date: 2022

Variant appearance in text: rs550057
PubMed Link: 35399945
Variant Present in the following documents:
  • Main text
  • fendo-13-836023.pdf
View BVdb publication page



Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Breast Cancer Risk Prediction Among Asian Women.

Jama Network Open
Yang, Yaohua Y; Tao, Ran R; Shu, Xiang X; Cai, Qiuyin Q; Wen, Wanqing W; Gu, Kai K; Gao, Yu-Tang YT; Zheng, Ying Y; Kweon, Sun-Seog SS; Shin, Min-Ho MH; Choi, Ji-Yeob JY; Lee, Eun-Sook ES; Kong, Sun-Young SY; Park, Boyoung B; Park, Min Ho MH; Jia, Guochong G; Li, Bingshan B; Kang, Daehee D; Shu, Xiao-Ou XO; Long, Jirong J; Zheng, Wei W
Publication Date: 2022-03-01

Variant appearance in text: rs550057
PubMed Link: 35311964
Variant Present in the following documents:
  • jamanetwopen-e2149030-s001.pdf
View BVdb publication page



Whole-genome sequencing reveals host factors underlying critical COVID-19.

Nature
Kousathanas, Athanasios A; Pairo-Castineira, Erola E; Rawlik, Konrad K; Stuckey, Alex A; Odhams, Christopher A CA; Walker, Susan S; Russell, Clark D CD; Malinauskas, Tomas T; Wu, Yang Y; Millar, Jonathan J; Shen, Xia X; Elliott, Katherine S KS; Griffiths, Fiona F; Oosthuyzen, Wilna W; Morrice, Kirstie K; Keating, Sean S; Wang, Bo B; Rhodes, Daniel D; Klaric, Lucija L; Zechner, Marie M; Parkinson, Nick N; Siddiq, Afshan A; Goddard, Peter P; Donovan, Sally S; Maslove, David D; Nichol, Alistair A; Semple, Malcolm G MG; Zainy, Tala T; Maleady-Crowe, Fiona F; Todd, Linda L; Salehi, Shahla S; Knight, Julian J; Elgar, Greg G; Chan, Georgia G; Arumugam, Prabhu P; Patch, Christine C; Rendon, Augusto A; Bentley, David D; Kingsley, Clare C; Kosmicki, Jack A JA; Horowitz, Julie E JE; Baras, Aris A; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Justice, Anne A; Mirshahi, Tooraj T; Oetjens, Matthew M; Rader, Daniel J DJ; Ritchie, Marylyn D MD; Verma, Anurag A; Fowler, Tom A TA; Shankar-Hari, Manu M; Summers, Charlotte C; Hinds, Charles C; Horby, Peter P; Ling, Lowell L; McAuley, Danny D; Montgomery, Hugh H; Openshaw, Peter J M PJM; Elliott, Paul P; Walsh, Timothy T; Tenesa, Albert A; , ; , ; , ; Fawkes, Angie A; Murphy, Lee L; Rowan, Kathy K; Ponting, Chris P CP; Vitart, Veronique V; Wilson, James F JF; Yang, Jian J; Bretherick, Andrew D AD; Scott, Richard H RH; Hendry, Sara Clohisey SC; Moutsianas, Loukas L; Law, Andy A; Caulfield, Mark J MJ; Baillie, J Kenneth JK
Publication Date: 2022-07

Variant appearance in text: rs550057
PubMed Link: 35255492
Variant Present in the following documents:
  • 41586_2022_4576_MOESM1_ESM.pdf
View BVdb publication page



Associations Between Glycemic Traits and Colorectal Cancer: A Mendelian Randomization Analysis.

Journal Of The National Cancer Institute
Murphy, Neil N; Song, Mingyang M; Papadimitriou, Nikos N; Carreras-Torres, Robert R; Langenberg, Claudia C; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Barroso, Inês I; Chen, Ji J; Frayling, Timothy M TM; Bull, Caroline J CJ; Vincent, Emma E EE; Cotterchio, Michelle M; Gruber, Stephen B SB; Pai, Rish K RK; Newcomb, Polly A PA; Perez-Cornago, Aurora A; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Vodicka, Pavel P; Wolk, Alicja A; Wu, Anna H AH; Peters, Ulrike U; Chan, Andrew T AT; Gunter, Marc J MJ
Publication Date: 2022-05-09

Variant appearance in text: rs550057
PubMed Link: 35048991
Variant Present in the following documents:
  • djac011_supplementary_data.pdf
View BVdb publication page



Genetically determined blood lead is associated with reduced renal function amongst individuals with type 2 diabetes mellitus: insight from Mendelian Randomisation.

Journal Of Molecular Medicine (Berlin, Germany)
Mazidi, Mohsen M; Kirwan, Richard R; Davies, Ian G IG
Publication Date: 2022-01

Variant appearance in text: rs550057
PubMed Link: 34661687
Variant Present in the following documents:
  • Main text
  • 109_2021_Article_2152.pdf
View BVdb publication page



Genetically determined blood lead is associated with reduced renal function amongst individuals with type 2 diabetes mellitus: insight from Mendelian Randomisation.

Journal Of Molecular Medicine (Berlin, Germany)
Mazidi, Mohsen M; Kirwan, Richard R; Davies, Ian G IG
Publication Date: 2021-10-18

Variant appearance in text: rs550057
PubMed Link: 34661687
Variant Present in the following documents:
  • Main text
  • 109_2021_Article_2152.pdf
View BVdb publication page



Associations between Genetically Predicted Circulating Protein Concentrations and Endometrial Cancer Risk.

Cancers
Zhu, Jingjing J; O'Mara, Tracy A TA; Liu, Duo D; Setiawan, Veronica Wendy VW; Glubb, Dylan D; Spurdle, Amanda B AB; Fasching, Peter A PA; Lambrechts, Diether D; Buchanan, Daniel D; Kho, Pik Fang PF; Cook, Linda S LS; Friedenreich, Christine C; Lacey, James V JV; Chen, Chu C; Wentzensen, Nicolas N; De Vivo, Immaculata I; Sun, Yan Y; Long, Jirong J; Du, Mengmeng M; Shu, Xiao-Ou XO; Zheng, Wei W; Wu, Lang L; Yu, Herbert H
Publication Date: 2021-04-26

Variant appearance in text: rs550057
PubMed Link: 33925895
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations Between Genetically Predicted Protein Levels and COVID-19 Severity.

The Journal Of Infectious Diseases
Zhu, Jingjing J; Wu, Chong C; Wu, Lang L
Publication Date: 2021-01-04

Variant appearance in text: rs550057
PubMed Link: 33083826
Variant Present in the following documents:
  • Main text
  • jiaa660.pdf
View BVdb publication page



Associations between Genetically Predicted Blood Protein Biomarkers and Pancreatic Cancer Risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Zhu, Jingjing J; Shu, Xiang X; Guo, Xingyi X; Liu, Duo D; Bao, Jiandong J; Milne, Roger L RL; Giles, Graham G GG; Wu, Chong C; Du, Mengmeng M; White, Emily E; Risch, Harvey A HA; Malats, Nuria N; Duell, Eric J EJ; Goodman, Phyllis J PJ; Li, Donghui D; Bracci, Paige P; Katzke, Verena V; Neale, Rachel E RE; Gallinger, Steven S; Van Den Eeden, Stephen K SK; Arslan, Alan A AA; Canzian, Federico F; Kooperberg, Charles C; Beane Freeman, Laura E LE; Scelo, Ghislaine G; Visvanathan, Kala K; Haiman, Christopher A CA; Le Marchand, Loïc L; Yu, Herbert H; Petersen, Gloria M GM; Stolzenberg-Solomon, Rachael R; Klein, Alison P AP; Cai, Qiuyin Q; Long, Jirong J; Shu, Xiao-Ou XO; Zheng, Wei W; Wu, Lang L
Publication Date: 2020-07

Variant appearance in text: rs550057
PubMed Link: 32439797
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies and Mendelian randomization analyses for leisure sedentary behaviours.

Nature Communications
van de Vegte, Yordi J YJ; Said, M Abdullah MA; Rienstra, Michiel M; van der Harst, Pim P; Verweij, Niek N
Publication Date: 2020-04-21

Variant appearance in text: rs550057
PubMed Link: 32317632
Variant Present in the following documents:
  • 41467_2020_15553_MOESM1_ESM.pdf
View BVdb publication page



Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure.

Nature Communications
Arvanitis, Marios M; Tampakakis, Emmanouil E; Zhang, Yanxiao Y; Wang, Wei W; Auton, Adam A; , ; Dutta, Diptavo D; Glavaris, Stephanie S; Keramati, Ali A; Chatterjee, Nilanjan N; Chi, Neil C NC; Ren, Bing B; Post, Wendy S WS; Battle, Alexis A
Publication Date: 2020-02-28

Variant appearance in text: rs550057
PubMed Link: 32111823
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_14843.pdf
View BVdb publication page



A genome-wide association study on liver enzymes in Korean population.

Plos One
Seo, Ji Yeon JY; Lee, Jong-Eun JE; Chung, Goh Eun GE; Shin, Eunsoon E; Kwak, Min-Sun MS; Yang, Jong In JI; Yim, Jeong Yoon JY
Publication Date: 2020

Variant appearance in text: rs550057
PubMed Link: 32084209
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of blood lead on coronary artery disease and its risk factors: a Mendelian Randomization study.

Scientific Reports
Schooling, C Mary CM; Johnson, Glen D GD; Grassman, Jean J
Publication Date: 2019-11-05

Variant appearance in text: rs550057
PubMed Link: 31690775
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_52482.pdf
View BVdb publication page



Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy.

American Journal Of Human Genetics
Nath, Artika P AP; Ritchie, Scott C SC; Grinberg, Nastasiya F NF; Tang, Howard Ho-Fung HH; Huang, Qin Qin QQ; Teo, Shu Mei SM; Ahola-Olli, Ari V AV; Würtz, Peter P; Havulinna, Aki S AS; Santalahti, Kristiina K; Pitkänen, Niina N; Lehtimäki, Terho T; Kähönen, Mika M; Lyytikäinen, Leo-Pekka LP; Raitoharju, Emma E; Seppälä, Ilkka I; Sarin, Antti-Pekka AP; Ripatti, Samuli S; Palotie, Aarno A; Perola, Markus M; Viikari, Jorma S JS; Jalkanen, Sirpa S; Maksimow, Mikael M; Salmi, Marko M; Wallace, Chris C; Raitakari, Olli T OT; Salomaa, Veikko V; Abraham, Gad G; Kettunen, Johannes J; Inouye, Michael M
Publication Date: 2019-12-05

Variant appearance in text: rs550057
PubMed Link: 31679650
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

Nature Communications
Graham, Sarah E SE; Nielsen, Jonas B JB; Zawistowski, Matthew M; Zhou, Wei W; Fritsche, Lars G LG; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Surakka, Ida I; Hornsby, Whitney E WE; Fermin, Damian D; Larach, Daniel B DB; Kheterpal, Sachin S; Brummett, Chad M CM; Lee, Seunggeun S; Kang, Hyun Min HM; Abecasis, Goncalo R GR; Romundstad, Solfrid S; Hallan, Stein S; Sampson, Matthew G MG; Hveem, Kristian K; Willer, Cristen J CJ
Publication Date: 2019-04-23

Variant appearance in text: rs550057
PubMed Link: 31015462
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_9861.pdf
View BVdb publication page



Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.

Nature Communications
Yao, Chen C; Chen, George G; Song, Ci C; Keefe, Joshua J; Mendelson, Michael M; Huan, Tianxiao T; Sun, Benjamin B BB; Laser, Annika A; Maranville, Joseph C JC; Wu, Hongsheng H; Ho, Jennifer E JE; Courchesne, Paul P; Lyass, Asya A; Larson, Martin G MG; Gieger, Christian C; Graumann, Johannes J; Johnson, Andrew D AD; Danesh, John J; Runz, Heiko H; Hwang, Shih-Jen SJ; Liu, Chunyu C; Butterworth, Adam S AS; Suhre, Karsten K; Levy, Daniel D
Publication Date: 2018-08-15

Variant appearance in text: rs550057
PubMed Link: 30111768
Variant Present in the following documents:
  • 41467_2018_5512_MOESM2_ESM.pdf
View BVdb publication page



Eleven loci with new reproducible genetic associations with allergic disease risk.

The Journal Of Allergy And Clinical Immunology
Ferreira, Manuel A R MAR; Vonk, Judith M JM; Baurecht, Hansjörg H; Marenholz, Ingo I; Tian, Chao C; Hoffman, Joshua D JD; Helmer, Quinta Q; Tillander, Annika A; Ullemar, Vilhelmina V; Lu, Yi Y; Rüschendorf, Franz F; , ; , ; Hinds, David A DA; Hübner, Norbert N; Weidinger, Stephan S; Magnusson, Patrik K E PKE; Jorgenson, Eric E; Lee, Young-Ae YA; Boomsma, Dorret I DI; Karlsson, Robert R; Almqvist, Catarina C; Koppelman, Gerard H GH; Paternoster, Lavinia L
Publication Date: 2019-02

Variant appearance in text: rs550057
PubMed Link: 29679657
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and colocalization.

Plos Genetics
Wen, Xiaoquan X; Pique-Regi, Roger R; Luca, Francesca F
Publication Date: 2017-03

Variant appearance in text: rs550057
PubMed Link: 28278150
Variant Present in the following documents:
  • Main text
  • pgen.1006646.pdf
View BVdb publication page



Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.

Plos One
McLachlan, Stela S; Giambartolomei, Claudia C; White, Jon J; Charoen, Pimphen P; Wong, Andrew A; Finan, Chris C; Engmann, Jorgen J; Shah, Tina T; Hersch, Micha M; Podmore, Clara C; Cavadino, Alana A; Jefferis, Barbara J BJ; Dale, Caroline E CE; Hypponen, Elina E; Morris, Richard W RW; Casas, Juan P JP; Kumari, Meena M; Ben-Shlomo, Yoav Y; Gaunt, Tom R TR; Drenos, Fotios F; Langenberg, Claudia C; Kuh, Diana D; Kivimaki, Mika M; Rueedi, Rico R; Waeber, Gerard G; Hingorani, Aroon D AD; Price, Jacqueline F JF; Walker, Ann P AP; ,
Publication Date: 2016

Variant appearance in text: rs550057
PubMed Link: 27280446
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction of genetic markers associated with serum alkaline phosphatase levels in the Japanese population.

Human Genome Variation
Masuda, Masatoshi M; Okuda, Kayo K; Ikeda, Daisuke D DD; Hishigaki, Haretsugu H; Fujiwara, Tsutomu T
Publication Date: 2015

Variant appearance in text: rs550057
PubMed Link: 27081532
Variant Present in the following documents:
  • Main text
  • hgv201519.pdf
View BVdb publication page



Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality.

Plos Genetics
Raffler, Johannes J; Friedrich, Nele N; Arnold, Matthias M; Kacprowski, Tim T; Rueedi, Rico R; Altmaier, Elisabeth E; Bergmann, Sven S; Budde, Kathrin K; Gieger, Christian C; Homuth, Georg G; Pietzner, Maik M; Römisch-Margl, Werner W; Strauch, Konstantin K; Völzke, Henry H; Waldenberger, Melanie M; Wallaschofski, Henri H; Nauck, Matthias M; Völker, Uwe U; Kastenmüller, Gabi G; Suhre, Karsten K
Publication Date: 2015-09

Variant appearance in text: rs550057
PubMed Link: 26352407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of blood lead shows multiple associations near ALAD.

Human Molecular Genetics
Warrington, Nicole M NM; Zhu, Gu G; Dy, Veronica V; Heath, Andrew C AC; Madden, Pamela A F PA; Hemani, Gibran G; Kemp, John P JP; Mcmahon, George G; St Pourcain, Beate B; Timpson, Nicholas J NJ; Taylor, Caroline M CM; Golding, Jean J; Lawlor, Debbie A DA; Steer, Colin C; Montgomery, Grant W GW; Martin, Nicholas G NG; Davey Smith, George G; Evans, David M DM; Whitfield, John B JB
Publication Date: 2015-07-01

Variant appearance in text: rs550057
PubMed Link: 25820613
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Nature Genetics
Kuchenbaecker, Karoline B KB; Ramus, Susan J SJ; Tyrer, Jonathan J; Lee, Andrew A; Shen, Howard C HC; Beesley, Jonathan J; Lawrenson, Kate K; McGuffog, Lesley L; Healey, Sue S; Lee, Janet M JM; Spindler, Tassja J TJ; Lin, Yvonne G YG; Pejovic, Tanja T; Bean, Yukie Y; Li, Qiyuan Q; Coetzee, Simon S; Hazelett, Dennis D; Miron, Alexander A; Southey, Melissa M; Terry, Mary Beth MB; Goldgar, David E DE; Buys, Saundra S SS; Janavicius, Ramunas R; Dorfling, Cecilia M CM; van Rensburg, Elizabeth J EJ; Neuhausen, Susan L SL; Ding, Yuan Chun YC; Hansen, Thomas V O TV; Jønson, Lars L; Gerdes, Anne-Marie AM; Ejlertsen, Bent B; Barrowdale, Daniel D; Dennis, Joe J; Benitez, Javier J; Osorio, Ana A; Garcia, Maria Jose MJ; Komenaka, Ian I; Weitzel, Jeffrey N JN; Ganschow, Pamela P; Peterlongo, Paolo P; Bernard, Loris L; Viel, Alessandra A; Bonanni, Bernardo B; Peissel, Bernard B; Manoukian, Siranoush S; Radice, Paolo P; Papi, Laura L; Ottini, Laura L; Fostira, Florentia F; Konstantopoulou, Irene I; Garber, Judy J; Frost, Debra D; Perkins, Jo J; Platte, Radka R; Ellis, Steve S; , ; Godwin, Andrew K AK; Schmutzler, Rita Katharina RK; Meindl, Alfons A; Engel, Christoph C; Sutter, Christian C; Sinilnikova, Olga M OM; , ; Damiola, Francesca F; Mazoyer, Sylvie S; Stoppa-Lyonnet, Dominique D; Claes, Kathleen K; De Leeneer, Kim K; Kirk, Judy J; Rodriguez, Gustavo C GC; Piedmonte, Marion M; O'Malley, David M DM; de la Hoya, Miguel M; Caldes, Trinidad T; Aittomäki, Kristiina K; Nevanlinna, Heli H; Collée, J Margriet JM; Rookus, Matti A MA; Oosterwijk, Jan C JC; , ; Tihomirova, Laima L; Tung, Nadine N; Hamann, Ute U; Isaccs, Claudine C; Tischkowitz, Marc M; Imyanitov, Evgeny N EN; Caligo, Maria A MA; Campbell, Ian G IG; Hogervorst, Frans B L FB; , ; Olah, Edith E; Diez, Orland O; Blanco, Ignacio I; Brunet, Joan J; Lazaro, Conxi C; Pujana, Miquel Angel MA; Jakubowska, Anna A; Gronwald, Jacek J; Lubinski, Jan J; Sukiennicki, Grzegorz G; Barkardottir, Rosa B RB; Plante, Marie M; Simard, Jacques J; Soucy, Penny P; Montagna, Marco M; Tognazzo, Silvia S; Teixeira, Manuel R MR; , ; Pankratz, Vernon S VS; Wang, Xianshu X; Lindor, Noralane N; Szabo, Csilla I CI; Kauff, Noah N; Vijai, Joseph J; Aghajanian, Carol A CA; Pfeiler, Georg G; Berger, Andreas A; Singer, Christian F CF; Tea, Muy-Kheng MK; Phelan, Catherine M CM; Greene, Mark H MH; Mai, Phuong L PL; Rennert, Gad G; Mulligan, Anna Marie AM; Tchatchou, Sandrine S; Andrulis, Irene L IL; Glendon, Gord G; Toland, Amanda Ewart AE; Jensen, Uffe Birk UB; Kruse, Torben A TA; Thomassen, Mads M; Bojesen, Anders A; Zidan, Jamal J; Friedman, Eitan E; Laitman, Yael Y; Soller, Maria M; Liljegren, Annelie A; Arver, Brita B; Einbeigi, Zakaria Z; Stenmark-Askmalm, Marie M; Olopade, Olufunmilayo I OI; Nussbaum, Robert L RL; Rebbeck, Timothy R TR; Nathanson, Katherine L KL; Domchek, Susan M SM; Lu, Karen H KH; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; , ; , ; Hein, Alexander A; Ekici, Arif B AB; Beckmann, Matthias W MW; Fasching, Peter A PA; Lambrechts, Diether D; Van Nieuwenhuysen, Els E; Vergote, Ignace I; Lambrechts, Sandrina S; Dicks, Ed E; Doherty, Jennifer A JA; Wicklund, Kristine G KG; Rossing, Mary Anne MA; Rudolph, Anja A; Chang-Claude, Jenny J; Wang-Gohrke, Shan S; Eilber, Ursula U; Moysich, Kirsten B KB; Odunsi, Kunle K; Sucheston, Lara L; Lele, Shashi S; Wilkens, Lynne R LR; Goodman, Marc T MT; Thompson, Pamela J PJ; Shvetsov, Yurii B YB; Runnebaum, Ingo B IB; Dürst, Matthias M; Hillemanns, Peter P; Dörk, Thilo T; Antonenkova, Natalia N; Bogdanova, Natalia N; Leminen, Arto A; Pelttari, Liisa M LM; Butzow, Ralf R; Modugno, Francesmary F; Kelley, Joseph L JL; Edwards, Robert P RP; Ness, Roberta B RB; du Bois, Andreas A; Heitz, Florian F; Schwaab, Ira I; Harter, Philipp P; Matsuo, Keitaro K; Hosono, Satoyo S; Orsulic, Sandra S; Jensen, Allan A; Kjaer, Susanne Kruger SK; Hogdall, Estrid E; Hasmad, Hanis Nazihah HN; Azmi, Mat Adenan Noor MA; Teo, Soo-Hwang SH; Woo, Yin-Ling YL; Fridley, Brooke L BL; Goode, Ellen L EL; Cunningham, Julie M JM; Vierkant, Robert A RA; Bruinsma, Fiona F; Giles, Graham G GG; Liang, Dong D; Hildebrandt, Michelle A T MA; Wu, Xifeng X; Levine, Douglas A DA; Bisogna, Maria M; Berchuck, Andrew A; Iversen, Edwin S ES; Schildkraut, Joellen M JM; Concannon, Patrick P; Weber, Rachel Palmieri RP; Cramer, Daniel W DW; Terry, Kathryn L KL; Poole, Elizabeth M EM; Tworoger, Shelley S SS; Bandera, Elisa V EV; Orlow, Irene I; Olson, Sara H SH; Krakstad, Camilla C; Salvesen, Helga B HB; Tangen, Ingvild L IL; Bjorge, Line L; van Altena, Anne M AM; Aben, Katja K H KK; Kiemeney, Lambertus A LA; Massuger, Leon F A G LF; Kellar, Melissa M; Brooks-Wilson, Angela A; Kelemen, Linda E LE; Cook, Linda S LS; Le, Nhu D ND; Cybulski, Cezary C; Yang, Hannah H; Lissowska, Jolanta J; Brinton, Louise A LA; Wentzensen, Nicolas N; Hogdall, Claus C; Lundvall, Lene L; Nedergaard, Lotte L; Baker, Helen H; Song, Honglin H; Eccles, Diana D; McNeish, Ian I; Paul, James J; Carty, Karen K; Siddiqui, Nadeem N; Glasspool, Rosalind R; Whittemore, Alice S AS; Rothstein, Joseph H JH; McGuire, Valerie V; Sieh, Weiva W; Ji, Bu-Tian BT; Zheng, Wei W; Shu, Xiao-Ou XO; Gao, Yu-Tang YT; Rosen, Barry B; Risch, Harvey A HA; McLaughlin, John R JR; Narod, Steven A SA; Monteiro, Alvaro N AN; Chen, Ann A; Lin, Hui-Yi HY; Permuth-Wey, Jenny J; Sellers, Thomas A TA; Tsai, Ya-Yu YY; Chen, Zhihua Z; Ziogas, Argyrios A; Anton-Culver, Hoda H; Gentry-Maharaj, Aleksandra A; Menon, Usha U; Harrington, Patricia P; Lee, Alice W AW; Wu, Anna H AH; Pearce, Celeste L CL; Coetzee, Gerry G; Pike, Malcolm C MC; Dansonka-Mieszkowska, Agnieszka A; Timorek, Agnieszka A; Rzepecka, Iwona K IK; Kupryjanczyk, Jolanta J; Freedman, Matt M; Noushmehr, Houtan H; Easton, Douglas F DF; Offit, Kenneth K; Couch, Fergus J FJ; Gayther, Simon S; Pharoah, Paul P PP; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; ,
Publication Date: 2015-02

Variant appearance in text: rs550057
PubMed Link: 25581431
Variant Present in the following documents:
  • NIHMS647338-supplement-1.pdf
View BVdb publication page