POC5 c.107A>T ;(p.H36L)

Variant ID: 5-75003678-T-A

NM_001099271.1(POC5):c.107A>T;(p.H36L)

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Multivariate Genome-wide Association Analysis by Iterative Hard Thresholding.

Bioinformatics (Oxford, England)
Chu, Benjamin B BB; Ko, Seyoon S; Zhou, Jin J JJ; Jensen, Aubrey A; Zhou, Hua H; Sinsheimer, Janet S JS; Lange, Kenneth K
Publication Date: 2023-04-17

Variant appearance in text: rs2307111
PubMed Link: 37067496
Variant Present in the following documents:
  • Main text
  • btad193_supplementary_data.pdf
  • btad193.pdf
View BVdb publication page



The utility of a type 2 diabetes polygenic score in addition to clinical variables for prediction of type 2 diabetes incidence in birth, youth and adult cohorts in an Indigenous study population.

Diabetologia
Wedekind, Lauren E LE; Mahajan, Anubha A; Hsueh, Wen-Chi WC; Chen, Peng P; Olaiya, Muideen T MT; Kobes, Sayuko S; Sinha, Madhumita M; Baier, Leslie J LJ; Knowler, William C WC; McCarthy, Mark I MI; Hanson, Robert L RL
Publication Date: 2023-03-02

Variant appearance in text: rs2307111
PubMed Link: 36862161
Variant Present in the following documents:
  • 125_2023_5870_MOESM1_ESM.pdf
View BVdb publication page



Childhood adiposity and novel subtypes of adult-onset diabetes: a Mendelian randomisation and genome-wide genetic correlation study.

Diabetologia
Wei, Yuxia Y; Richardson, Tom G TG; Zhan, Yiqiang Y; Carlsson, Sofia S
Publication Date: 2023-02-27

Variant appearance in text: rs2307111
PubMed Link: 36843089
Variant Present in the following documents:
  • 125_2023_5883_MOESM1_ESM.pdf
View BVdb publication page



Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.

Genome Biology
Kanoni, Stavroula S; Graham, Sarah E SE; Wang, Yuxuan Y; Surakka, Ida I; Ramdas, Shweta S; Zhu, Xiang X; Clarke, Shoa L SL; Bhatti, Konain Fatima KF; Vedantam, Sailaja S; Winkler, Thomas W TW; Locke, Adam E AE; Marouli, Eirini E; Zajac, Greg J M GJM; Wu, Kuan-Han H KH; Ntalla, Ioanna I; Hui, Qin Q; Klarin, Derek D; Hilliard, Austin T AT; Wang, Zeyuan Z; Xue, Chao C; Thorleifsson, Gudmar G; Helgadottir, Anna A; Gudbjartsson, Daniel F DF; Holm, Hilma H; Olafsson, Isleifur I; Hwang, Mi Yeong MY; Han, Sohee S; Akiyama, Masato M; Sakaue, Saori S; Terao, Chikashi C; Kanai, Masahiro M; Zhou, Wei W; Brumpton, Ben M BM; Rasheed, Humaira H; Havulinna, Aki S AS; Veturi, Yogasudha Y; Pacheco, Jennifer Allen JA; Rosenthal, Elisabeth A EA; Lingren, Todd T; Feng, QiPing Q; Kullo, Iftikhar J IJ; Narita, Akira A; Takayama, Jun J; Martin, Hilary C HC; Hunt, Karen A KA; Trivedi, Bhavi B; Haessler, Jeffrey J; Giulianini, Franco F; Bradford, Yuki Y; Miller, Jason E JE; Campbell, Archie A; Lin, Kuang K; Millwood, Iona Y IY; Rasheed, Asif A; Hindy, George G; Faul, Jessica D JD; Zhao, Wei W; Weir, David R DR; Turman, Constance C; Huang, Hongyan H; Graff, Mariaelisa M; Choudhury, Ananyo A; Sengupta, Dhriti D; Mahajan, Anubha A; Brown, Michael R MR; Zhang, Weihua W; Yu, Ketian K; Schmidt, Ellen M EM; Pandit, Anita A; Gustafsson, Stefan S; Yin, Xianyong X; Luan, Jian'an J; Zhao, Jing-Hua JH; Matsuda, Fumihiko F; Jang, Hye-Mi HM; Yoon, Kyungheon K; Medina-Gomez, Carolina C; Pitsillides, Achilleas A; Hottenga, Jouke Jan JJ; Wood, Andrew R AR; Ji, Yingji Y; Gao, Zishan Z; Haworth, Simon S; Yousri, Noha A NA; Mitchell, Ruth E RE; Chai, Jin Fang JF; Aadahl, Mette M; Bjerregaard, Anne A AA; Yao, Jie J; Manichaikul, Ani A; Hwu, Chii-Min CM; Hung, Yi-Jen YJ; Warren, Helen R HR; Ramirez, Julia J; Bork-Jensen, Jette J; Kårhus, Line L LL; Goel, Anuj A; Sabater-Lleal, Maria M; Noordam, Raymond R; Mauro, Pala P; Matteo, Floris F; McDaid, Aaron F AF; Marques-Vidal, Pedro P; Wielscher, Matthias M; Trompet, Stella S; Sattar, Naveed N; Møllehave, Line T LT; Munz, Matthias M; Zeng, Lingyao L; Huang, Jianfeng J; Yang, Bin B; Poveda, Alaitz A; Kurbasic, Azra A; Lamina, Claudia C; Forer, Lukas L; Scholz, Markus M; Galesloot, Tessel E TE; Bradfield, Jonathan P JP; Ruotsalainen, Sanni E SE; Daw, EWarwick E; Zmuda, Joseph M JM; Mitchell, Jonathan S JS; Fuchsberger, Christian C; Christensen, Henry H; Brody, Jennifer A JA; Vazquez-Moreno, Miguel M; Feitosa, Mary F MF; Wojczynski, Mary K MK; Wang, Zhe Z; Preuss, Michael H MH; Mangino, Massimo M; Christofidou, Paraskevi P; Verweij, Niek N; Benjamins, Jan W JW; Engmann, Jorgen J; Tsao, Noah L NL; Verma, Anurag A; Slieker, Roderick C RC; Lo, Ken Sin KS; Zilhao, Nuno R NR; Le, Phuong P; Kleber, Marcus E ME; Delgado, Graciela E GE; Huo, Shaofeng S; Ikeda, Daisuke D DD; Iha, Hiroyuki H; Yang, Jian J; Liu, Jun J; Demirkan, Ayşe A; Leonard, Hampton L HL; Marten, Jonathan J; Frank, Mirjam M; Schmidt, Börge B; Smyth, Laura J LJ; Cañadas-Garre, Marisa M; Wang, Chaolong C; Nakatochi, Masahiro M; Wong, Andrew A; Hutri-Kähönen, Nina N; Sim, Xueling X; Xia, Rui R; Huerta-Chagoya, Alicia A; Fernandez-Lopez, Juan Carlos JC; Lyssenko, Valeriya V; Nongmaithem, Suraj S SS; Bayyana, Swati S; Stringham, Heather M HM; Irvin, Marguerite R MR; Oldmeadow, Christopher C; Kim, Han-Na HN; Ryu, Seungho S; Timmers, Paul R H J PRHJ; Arbeeva, Liubov L; Dorajoo, Rajkumar R; Lange, Leslie A LA; Prasad, Gauri G; Lorés-Motta, Laura L; Pauper, Marc M; Long, Jirong J; Li, Xiaohui X; Theusch, Elizabeth E; Takeuchi, Fumihiko F; Spracklen, Cassandra N CN; Loukola, Anu A; Bollepalli, Sailalitha S; Warner, Sophie C SC; Wang, Ya Xing YX; Wei, Wen B WB; Nutile, Teresa T; Ruggiero, Daniela D; Sung, Yun Ju YJ; Chen, Shufeng S; Liu, Fangchao F; Yang, Jingyun J; Kentistou, Katherine A KA; Banas, Bernhard B; Nardone, Giuseppe Giovanni GG; Meidtner, Karina K; Bielak, Lawrence F LF; Smith, Jennifer A JA; Hebbar, Prashantha P; Farmaki, Aliki-Eleni AE; Hofer, Edith E; Lin, Maoxuan M; Concas, Maria Pina MP; Vaccargiu, Simona S; van der Most, Peter J PJ; Pitkänen, Niina N; Cade, Brian E BE; van der Laan, Sander W SW; Chitrala, Kumaraswamy Naidu KN; Weiss, Stefan S; Bentley, Amy R AR; Doumatey, Ayo P AP; Adeyemo, Adebowale A AA; Lee, Jong Young JY; Petersen, Eva R B ERB; Nielsen, Aneta A AA; Choi, Hyeok Sun HS; Nethander, Maria M; Freitag-Wolf, Sandra S; Southam, Lorraine L; Rayner, Nigel W NW; Wang, Carol A CA; Lin, Shih-Yi SY; Wang, Jun-Sing JS; Couture, Christian C; Lyytikäinen, Leo-Pekka LP; Nikus, Kjell K; Cuellar-Partida, Gabriel G; Vestergaard, Henrik H; Hidalgo, Bertha B; Giannakopoulou, Olga O; Cai, Qiuyin Q; Obura, Morgan O MO; van Setten, Jessica J; Li, Xiaoyin X; Liang, Jingjing J; Tang, Hua H; Terzikhan, Natalie N; Shin, Jae Hun JH; Jackson, Rebecca D RD; Reiner, Alexander P AP; Martin, Lisa Warsinger LW; Chen, Zhengming Z; Li, Liming L; Kawaguchi, Takahisa T; Thiery, Joachim J; Bis, Joshua C JC; Launer, Lenore J LJ; Li, Huaixing H; Nalls, Mike A MA; Raitakari, Olli T OT; Ichihara, Sahoko S; Wild, Sarah H SH; Nelson, Christopher P CP; Campbell, Harry H; Jäger, Susanne S; Nabika, Toru T; Al-Mulla, Fahd F; Niinikoski, Harri H; Braund, Peter S PS; Kolcic, Ivana I; Kovacs, Peter P; Giardoglou, Tota T; Katsuya, Tomohiro T; de Kleijn, Dominique D; de Borst, Gert J GJ; Kim, Eung Kweon EK; Adams, Hieab H H HHH; Ikram, M Arfan MA; Zhu, Xiaofeng X; Asselbergs, Folkert W FW; Kraaijeveld, Adriaan O AO; Beulens, Joline W J JWJ; Shu, Xiao-Ou XO; Rallidis, Loukianos S LS; Pedersen, Oluf O; Hansen, Torben T; Mitchell, Paul P; Hewitt, Alex W AW; Kähönen, Mika M; Pérusse, Louis L; Bouchard, Claude C; Tönjes, Anke A; Chen, Yii-Der Ida YI; Pennell, Craig E CE; Mori, Trevor A TA; Lieb, Wolfgang W; Franke, Andre A; Ohlsson, Claes C; Mellström, Dan D; Cho, Yoon Shin YS; Lee, Hyejin H; Yuan, Jian-Min JM; Koh, Woon-Puay WP; Rhee, Sang Youl SY; Woo, Jeong-Taek JT; Heid, Iris M IM; Stark, Klaus J KJ; Zimmermann, Martina E ME; Völzke, Henry H; Homuth, Georg G; Evans, Michele K MK; Zonderman, Alan B AB; Polasek, Ozren O; Pasterkamp, Gerard G; Hoefer, Imo E IE; Redline, Susan S; Pahkala, Katja K; Oldehinkel, Albertine J AJ; Snieder, Harold H; Biino, Ginevra G; Schmidt, Reinhold R; Schmidt, Helena H; Bandinelli, Stefania S; Dedoussis, George G; Thanaraj, Thangavel Alphonse TA; Kardia, Sharon L R SLR; Peyser, Patricia A PA; Kato, Norihiro N; Schulze, Matthias B MB; Girotto, Giorgia G; Böger, Carsten A CA; Jung, Bettina B; Joshi, Peter K PK; Bennett, David A DA; De Jager, Philip L PL; Lu, Xiangfeng X; Mamakou, Vasiliki V; Brown, Morris M; Caulfield, Mark J MJ; Munroe, Patricia B PB; Guo, Xiuqing X; Ciullo, Marina M; Jonas, Jost B JB; Samani, Nilesh J NJ; Kaprio, Jaakko J; Pajukanta, Päivi P; Tusié-Luna, Teresa T; Aguilar-Salinas, Carlos A CA; Adair, Linda S LS; Bechayda, Sonny Augustin SA; de Silva, H Janaka HJ; Wickremasinghe, Ananda R AR; Krauss, Ronald M RM; Wu, Jer-Yuarn JY; Zheng, Wei W; Hollander, Anneke Iden AI; Bharadwaj, Dwaipayan D; Correa, Adolfo A; Wilson, James G JG; Lind, Lars L; Heng, Chew-Kiat CK; Nelson, Amanda E AE; Golightly, Yvonne M YM; Wilson, James F JF; Penninx, Brenda B; Kim, Hyung-Lae HL; Attia, John J; Scott, Rodney J RJ; Rao, D C DC; Arnett, Donna K DK; Hunt, Steven C SC; Walker, Mark M; Koistinen, Heikki A HA; Chandak, Giriraj R GR; Mercader, Josep M JM; Costanzo, Maria C MC; Jang, Dongkeun D; Burtt, Noël P NP; Villalpando, Clicerio Gonzalez CG; Orozco, Lorena L; Fornage, Myriam M; Tai, EShyong E; van Dam, Rob M RM; Lehtimäki, Terho T; Chaturvedi, Nish N; Yokota, Mitsuhiro M; Liu, Jianjun J; Reilly, Dermot F DF; McKnight, Amy Jayne AJ; Kee, Frank F; Jöckel, Karl-Heinz KH; McCarthy, Mark I MI; Palmer, Colin N A CNA; Vitart, Veronique V; Hayward, Caroline C; Simonsick, Eleanor E; van Duijn, Cornelia M CM; Jin, Zi-Bing ZB; Qu, Jia J; Hishigaki, Haretsugu H; Lin, Xu X; März, Winfried W; Gudnason, Vilmundur V; Tardif, Jean-Claude JC; Lettre, Guillaume G; Hart, Leen M 't LM'; Elders, Petra J M PJM; Damrauer, Scott M SM; Kumari, Meena M; Kivimaki, Mika M; van der Harst, Pim P; Spector, Tim D TD; Loos, Ruth J F RJF; Province, Michael A MA; Parra, Esteban J EJ; Cruz, Miguel M; Psaty, Bruce M BM; Brandslund, Ivan I; Pramstaller, Peter P PP; Rotimi, Charles N CN; Christensen, Kaare K; Ripatti, Samuli S; Widén, Elisabeth E; Hakonarson, Hakon H; Grant, Struan F A SFA; Kiemeney, Lambertus A L M LALM; de Graaf, Jacqueline J; Loeffler, Markus M; Kronenberg, Florian F; Gu, Dongfeng D; Erdmann, Jeanette J; Schunkert, Heribert H; Franks, Paul W PW; Linneberg, Allan A; Jukema, J Wouter JW; Khera, Amit V AV; Männikkö, Minna M; Jarvelin, Marjo-Riitta MR; Kutalik, Zoltan Z; Francesco, Cucca C; Mook-Kanamori, Dennis O DO; van Dijk, Ko Willems KW; Watkins, Hugh H; Strachan, David P DP; Grarup, Niels N; Sever, Peter P; Poulter, Neil N; Chuang, Lee-Ming LM; Rotter, Jerome I JI; Dantoft, Thomas M TM; Karpe, Fredrik F; Neville, Matt J MJ; Timpson, Nicholas J NJ; Cheng, Ching-Yu CY; Wong, Tien-Yin TY; Khor, Chiea Chuen CC; Li, Hengtong H; Sabanayagam, Charumathi C; Peters, Annette A; Gieger, Christian C; Hattersley, Andrew T AT; Pedersen, Nancy L NL; Magnusson, Patrik K E PKE; Boomsma, Dorret I DI; Willemsen, Allegonda H M AHM; Cupples, LAdrienne L; van Meurs, Joyce B J JBJ; Ghanbari, Mohsen M; Gordon-Larsen, Penny P; Huang, Wei W; Kim, Young Jin YJ; Tabara, Yasuharu Y; Wareham, Nicholas J NJ; Langenberg, Claudia C; Zeggini, Eleftheria E; Kuusisto, Johanna J; Laakso, Markku M; Ingelsson, Erik E; Abecasis, Goncalo G; Chambers, John C JC; Kooner, Jaspal S JS; de Vries, Paul S PS; Morrison, Alanna C AC; Hazelhurst, Scott S; Ramsay, Michèle M; North, Kari E KE; Daviglus, Martha M; Kraft, Peter P; Martin, Nicholas G NG; Whitfield, John B JB; Abbas, Shahid S; Saleheen, Danish D; Walters, Robin G RG; Holmes, Michael V MV; Black, Corri C; Smith, Blair H BH; Baras, Aris A; Justice, Anne E AE; Buring, Julie E JE; Ridker, Paul M PM; Chasman, Daniel I DI; Kooperberg, Charles C; Tamiya, Gen G; Yamamoto, Masayuki M; van Heel, David A DA; Trembath, Richard C RC; Wei, Wei-Qi WQ; Jarvik, Gail P GP; Namjou, Bahram B; Hayes, M Geoffrey MG; Ritchie, Marylyn D MD; Jousilahti, Pekka P; Salomaa, Veikko V; Hveem, Kristian K; Åsvold, Bjørn Olav BO; Kubo, Michiaki M; Kamatani, Yoichiro Y; Okada, Yukinori Y; Murakami, Yoshinori Y; Kim, Bong-Jo BJ; Thorsteinsdottir, Unnur U; Stefansson, Kari K; Zhang, Jifeng J; Chen, YEugene Y; Ho, Yuk-Lam YL; Lynch, Julie A JA; Rader, Daniel J DJ; Tsao, Philip S PS; Chang, Kyong-Mi KM; Cho, Kelly K; O'Donnell, Christopher J CJ; Gaziano, John M JM; Wilson, Peter W F PWF; Frayling, Timothy M TM; Hirschhorn, Joel N JN; Kathiresan, Sekar S; Mohlke, Karen L KL; Sun, Yan V YV; Morris, Andrew P AP; Boehnke, Michael M; Brown, Christopher D CD; Natarajan, Pradeep P; Deloukas, Panos P; Willer, Cristen J CJ; Assimes, Themistocles L TL; Peloso, Gina M GM
Publication Date: 2022-12-27

Variant appearance in text: rs2307111
PubMed Link: 36575460
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Overlap Analysis Identifies a Shared Etiology between Migraine and Headache with Type 2 Diabetes.

Genes
Islam, Md Rafiqul MR; The International Headache Genetics Consortium Ihgc, ; Nyholt, Dale R DR
Publication Date: 2022-10-12

Variant appearance in text: rs2307111
PubMed Link: 36292730
Variant Present in the following documents:
  • genes-13-01845.pdf
View BVdb publication page



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: rs2307111
PubMed Link: 35606578
Variant Present in the following documents:
  • 125_2022_5725_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: rs2307111
PubMed Link: 35048991
Variant Present in the following documents:
  • djac011_supplementary_data.pdf
View BVdb publication page



The Association of Waist Circumference and the Risk of Deep Vein Thrombosis.

International Journal Of General Medicine
Lin, Churong C; Sun, Ling L; Chen, Qinchang Q
Publication Date: 2021

Variant appearance in text: rs2307111
PubMed Link: 34880666
Variant Present in the following documents:
  • Main text
  • ijgm-14-9273.pdf
View BVdb publication page



Body mass index and colorectal cancer risk: A Mendelian randomization study.

Cancer Science
Suzuki, Shiori S; Goto, Atsushi A; Nakatochi, Masahiro M; Narita, Akira A; Yamaji, Taiki T; Sawada, Norie N; Katagiri, Ryoko R; Iwagami, Masao M; Hanyuda, Akiko A; Hachiya, Tsuyoshi T; Sutoh, Yoichi Y; Oze, Isao I; Koyanagi, Yuriko N YN; Kasugai, Yumiko Y; Taniyama, Yukari Y; Ito, Hidemi H; Ikezaki, Hiroaki H; Nishida, Yuichiro Y; Tamura, Takashi T; Mikami, Haruo H; Takezaki, Toshiro T; Suzuki, Sadao S; Ozaki, Etsuko E; Kuriki, Kiyonori K; Takashima, Naoyuki N; Arisawa, Kokichi K; Takeuchi, Kenji K; Tanno, Kozo K; Shimizu, Atsushi A; Tamiya, Gen G; Hozawa, Atsushi A; Kinoshita, Kengo K; Wakai, Kenji K; Sasaki, Makoto M; Yamamoto, Masayuki M; Matsuo, Keitaro K; Tsugane, Shoichiro S; Iwasaki, Motoki M
Publication Date: 2021-04

Variant appearance in text: rs2307111
PubMed Link: 33506574
Variant Present in the following documents:
  • CAS-112-1579-s001.pdf
View BVdb publication page



Breast cancer risk factors and their effects on survival: a Mendelian randomisation study.

Bmc Medicine
Escala-Garcia, Maria M; Morra, Anna A; Canisius, Sander S; Chang-Claude, Jenny J; Kar, Siddhartha S; Zheng, Wei W; Bojesen, Stig E SE; Easton, Doug D; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK
Publication Date: 2020-11-17

Variant appearance in text: rs2307111
PubMed Link: 33198768
Variant Present in the following documents:
  • Main text
  • 12916_2020_Article_1797.pdf
View BVdb publication page



The shaping of immunological responses through natural selection after the Roma Diaspora.

Scientific Reports
Dobon, Begoña B; Ter Horst, Rob R; Laayouni, Hafid H; Mondal, Mayukh M; Bianco, Erica E; Comas, David D; Ioana, Mihai M; Bosch, Elena E; Bertranpetit, Jaume J; Netea, Mihai G MG
Publication Date: 2020-09-30

Variant appearance in text: rs2307111
PubMed Link: 32999407
Variant Present in the following documents:
  • 41598_2020_73182_MOESM1_ESM.pdf
View BVdb publication page



Obesity, clinical, and genetic predictors for glycemic progression in Chinese patients with type 2 diabetes: A cohort study using the Hong Kong Diabetes Register and Hong Kong Diabetes Biobank.

Plos Medicine
Jiang, Guozhi G; Luk, Andrea O AO; Tam, Claudia H T CHT; Lau, Eric S ES; Ozaki, Risa R; Chow, Elaine Y K EYK; Kong, Alice P S APS; Lim, Cadmon K P CKP; Lee, Ka Fai KF; Siu, Shing Chung SC; Hui, Grace G; Tsang, Chiu Chi CC; Lau, Kam Piu KP; Leung, Jenny Y Y JYY; Tsang, Man-Wo MW; Kam, Grace G; Lau, Ip Tim IT; Li, June K JK; Yeung, Vincent T VT; Lau, Emmy E; Lo, Stanley S; Fung, Samuel K S SKS; Cheng, Yuk Lun YL; Chow, Chun Chung CC; Pearson, Ewan R ER; So, Wing Yee WY; Chan, Juliana C N JCN; Ma, Ronald C W RCW; , ; ,
Publication Date: 2020-07

Variant appearance in text: rs2307111
PubMed Link: 32722720
Variant Present in the following documents:
  • Main text
  • pmed.1003209.pdf
View BVdb publication page



A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine.

Nature Communications
Guo, Yanjun Y; Rist, Pamela M PM; Daghlas, Iyas I; Giulianini, Franco F; , ; , ; Kurth, Tobias T; Chasman, Daniel I DI
Publication Date: 2020-07-06

Variant appearance in text: rs2307111
PubMed Link: 32632093
Variant Present in the following documents:
  • 41467_2020_17002_MOESM1_ESM.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2307111
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Waist circumference increases risk of coronary heart disease: Evidence from a Mendelian randomization study.

Molecular Genetics & Genomic Medicine
Chen, Qinchang Q; Li, Lingling L; Yi, Junzhe J; Huang, Kai K; Shen, Runnan R; Wu, Ridong R; Yao, Chen C
Publication Date: 2020-04

Variant appearance in text: rs2307111
PubMed Link: 32090477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insights into the aetiology of snoring from observational and genetic investigations in the UK Biobank.

Nature Communications
Campos, Adrián I AI; García-Marín, Luis M LM; Byrne, Enda M EM; Martin, Nicholas G NG; Cuéllar-Partida, Gabriel G; Rentería, Miguel E ME
Publication Date: 2020-02-14

Variant appearance in text: rs2307111
PubMed Link: 32060260
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_14625.pdf
View BVdb publication page



Classification of Type 2 Diabetes Genetic Variants and a Novel Genetic Risk Score Association With Insulin Clearance.

The Journal Of Clinical Endocrinology And Metabolism
Goodarzi, Mark O MO; Palmer, Nicholette D ND; Cui, Jinrui J; Guo, Xiuqing X; Chen, Yii-Der I YI; Taylor, Kent D KD; Raffel, Leslie J LJ; Wagenknecht, Lynne E LE; Buchanan, Thomas A TA; Hsueh, Willa A WA; Rotter, Jerome I JI
Publication Date: 2020-04-01

Variant appearance in text: rs2307111
PubMed Link: 31714576
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs2307111
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Variants in BMI-Associated Genes and Adrenergic Genes are not Associated with Gestational Weight Trajectory.

Obesity (Silver Spring, Md.)
Kawai, Vivian K VK; Nwosu, Samuel K SK; Kurnik, Daniel D; Harrell, Frank E FE; Stein, C Michael CM
Publication Date: 2019-07

Variant appearance in text: rs2307111
PubMed Link: 31116007
Variant Present in the following documents:
  • Main text
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs2307111
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
Publication Date: 2018-03-02

Variant appearance in text: rs2307111
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Population differentiation in allele frequencies of obesity-associated SNPs.

Bmc Genomics
Mao, Linyong L; Fang, Yayin Y; Campbell, Michael M; Southerland, William M WM
Publication Date: 2017-11-10

Variant appearance in text: rs2307111
PubMed Link: 29126384
Variant Present in the following documents:
  • Main text
  • 12864_2017_Article_4262.pdf
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: rs2307111
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
Publication Date: 2017-04-24

Variant appearance in text: rs2307111
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2307111
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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

Nature
Locke, Adam E AE; Kahali, Bratati B; Berndt, Sonja I SI; Justice, Anne E AE; Pers, Tune H TH; Day, Felix R FR; Powell, Corey C; Vedantam, Sailaja S; Buchkovich, Martin L ML; Yang, Jian J; Croteau-Chonka, Damien C DC; Esko, Tonu T; Fall, Tove T; Ferreira, Teresa T; Gustafsson, Stefan S; Kutalik, Zoltán Z; Luan, Jian'an J; Mägi, Reedik R; Randall, Joshua C JC; Winkler, Thomas W TW; Wood, Andrew R AR; Workalemahu, Tsegaselassie T; Faul, Jessica D JD; Smith, Jennifer A JA; Zhao, Jing Hua JH; Zhao, Wei W; Chen, Jin J; Fehrmann, Rudolf R; Hedman, Åsa K ÅK; Karjalainen, Juha J; Schmidt, Ellen M EM; Absher, Devin D; Amin, Najaf N; Anderson, Denise D; Beekman, Marian M; Bolton, Jennifer L JL; Bragg-Gresham, Jennifer L JL; Buyske, Steven S; Demirkan, Ayse A; Deng, Guohong G; Ehret, Georg B GB; Feenstra, Bjarke B; Feitosa, Mary F MF; Fischer, Krista K; Goel, Anuj A; Gong, Jian J; Jackson, Anne U AU; Kanoni, Stavroula S; Kleber, Marcus E ME; Kristiansson, Kati K; Lim, Unhee U; Lotay, Vaneet V; Mangino, Massimo M; Leach, Irene Mateo IM; Medina-Gomez, Carolina C; Medland, Sarah E SE; Nalls, Michael A MA; Palmer, Cameron D CD; Pasko, Dorota D; Pechlivanis, Sonali S; Peters, Marjolein J MJ; Prokopenko, Inga I; Shungin, Dmitry D; Stančáková, Alena A; Strawbridge, Rona J RJ; Sung, Yun Ju YJ; Tanaka, Toshiko T; Teumer, Alexander A; Trompet, Stella S; van der Laan, Sander W SW; van Setten, Jessica J; Van Vliet-Ostaptchouk, Jana V JV; Wang, Zhaoming Z; Yengo, Loïc L; Zhang, Weihua W; Isaacs, Aaron A; Albrecht, Eva E; Ärnlöv, Johan J; Arscott, Gillian M GM; Attwood, Antony P AP; Bandinelli, Stefania S; Barrett, Amy A; Bas, Isabelita N IN; Bellis, Claire C; Bennett, Amanda J AJ; Berne, Christian C; Blagieva, Roza R; Blüher, Matthias M; Böhringer, Stefan S; Bonnycastle, Lori L LL; Böttcher, Yvonne Y; Boyd, Heather A HA; Bruinenberg, Marcel M; Caspersen, Ida H IH; Chen, Yii-Der Ida YI; Clarke, Robert R; Daw, E Warwick EW; de Craen, Anton J M AJM; Delgado, Graciela G; Dimitriou, Maria M; Doney, Alex S F ASF; Eklund, Niina N; Estrada, Karol K; Eury, Elodie E; Folkersen, Lasse L; Fraser, Ross M RM; Garcia, Melissa E ME; Geller, Frank F; Giedraitis, Vilmantas V; Gigante, Bruna B; Go, Alan S AS; Golay, Alain A; Goodall, Alison H AH; Gordon, Scott D SD; Gorski, Mathias M; Grabe, Hans-Jörgen HJ; Grallert, Harald H; Grammer, Tanja B TB; Gräßler, Jürgen J; Grönberg, Henrik H; Groves, Christopher J CJ; Gusto, Gaëlle G; Haessler, Jeffrey J; Hall, Per P; Haller, Toomas T; Hallmans, Goran G; Hartman, Catharina A CA; Hassinen, Maija M; Hayward, Caroline C; Heard-Costa, Nancy L NL; Helmer, Quinta Q; Hengstenberg, Christian C; Holmen, Oddgeir O; Hottenga, Jouke-Jan JJ; James, Alan L AL; Jeff, Janina M JM; Johansson, Åsa Å; Jolley, Jennifer J; Juliusdottir, Thorhildur T; Kinnunen, Leena L; Koenig, Wolfgang W; Koskenvuo, Markku M; Kratzer, Wolfgang W; Laitinen, Jaana J; Lamina, Claudia C; Leander, Karin K; Lee, Nanette R NR; Lichtner, Peter P; Lind, Lars L; Lindström, Jaana J; Lo, Ken Sin KS; Lobbens, Stéphane S; Lorbeer, Roberto R; Lu, Yingchang Y; Mach, François F; Magnusson, Patrik K E PKE; Mahajan, Anubha A; McArdle, Wendy L WL; McLachlan, Stela S; Menni, Cristina C; Merger, Sigrun S; Mihailov, Evelin E; Milani, Lili L; Moayyeri, Alireza A; Monda, Keri L KL; Morken, Mario A MA; Mulas, Antonella A; Müller, Gabriele G; Müller-Nurasyid, Martina M; Musk, Arthur W AW; Nagaraja, Ramaiah R; Nöthen, Markus M MM; Nolte, Ilja M IM; Pilz, Stefan S; Rayner, Nigel W NW; Renstrom, Frida F; Rettig, Rainer R; Ried, Janina S JS; Ripke, Stephan S; Robertson, Neil R NR; Rose, Lynda M LM; Sanna, Serena S; Scharnagl, Hubert H; Scholtens, Salome S; Schumacher, Fredrick R FR; Scott, William R WR; Seufferlein, Thomas T; Shi, Jianxin J; Smith, Albert Vernon AV; Smolonska, Joanna J; Stanton, Alice V AV; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen K; Stringham, Heather M HM; Sundström, Johan J; Swertz, Morris A MA; Swift, Amy J AJ; Syvänen, Ann-Christine AC; Tan, Sian-Tsung ST; Tayo, Bamidele O BO; Thorand, Barbara B; Thorleifsson, Gudmar G; Tyrer, Jonathan P JP; Uh, Hae-Won HW; Vandenput, Liesbeth L; Verhulst, Frank C FC; Vermeulen, Sita H SH; Verweij, Niek N; Vonk, Judith M JM; Waite, Lindsay L LL; Warren, Helen R HR; Waterworth, Dawn D; Weedon, Michael N MN; Wilkens, Lynne R LR; Willenborg, Christina C; Wilsgaard, Tom T; Wojczynski, Mary K MK; Wong, Andrew A; Wright, Alan F AF; Zhang, Qunyuan Q; , ; Brennan, Eoin P EP; Choi, Murim M; Dastani, Zari Z; Drong, Alexander W AW; Eriksson, Per P; Franco-Cereceda, Anders A; Gådin, Jesper R JR; Gharavi, Ali G AG; Goddard, Michael E ME; Handsaker, Robert E RE; Huang, Jinyan J; Karpe, Fredrik F; Kathiresan, Sekar S; Keildson, Sarah S; Kiryluk, Krzysztof K; Kubo, Michiaki M; Lee, Jong-Young JY; Liang, Liming L; Lifton, Richard P RP; Ma, Baoshan B; McCarroll, Steven A SA; McKnight, Amy J AJ; Min, Josine L JL; Moffatt, Miriam F MF; Montgomery, Grant W GW; Murabito, Joanne M JM; Nicholson, George G; Nyholt, Dale R DR; Okada, Yukinori Y; Perry, John R B JRB; Dorajoo, Rajkumar R; Reinmaa, Eva E; Salem, Rany M RM; Sandholm, Niina N; Scott, Robert A RA; Stolk, Lisette L; Takahashi, Atsushi A; Tanaka, Toshihiro T; van 't Hooft, Ferdinand M FM; Vinkhuyzen, Anna A E AAE; Westra, Harm-Jan HJ; Zheng, Wei W; Zondervan, Krina T KT; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Heath, Andrew C AC; Arveiler, Dominique D; Bakker, Stephan J L SJL; Beilby, John J; Bergman, Richard N RN; Blangero, John J; Bovet, Pascal P; Campbell, Harry H; Caulfield, Mark J MJ; Cesana, Giancarlo G; Chakravarti, Aravinda A; Chasman, Daniel I DI; Chines, Peter S PS; Collins, Francis S FS; Crawford, Dana C DC; Cupples, L Adrienne LA; Cusi, Daniele D; Danesh, John J; de Faire, Ulf U; den Ruijter, Hester M HM; Dominiczak, Anna F AF; Erbel, Raimund R; Erdmann, Jeanette J; Eriksson, Johan G JG; Farrall, Martin M; Felix, Stephan B SB; Ferrannini, Ele E; Ferrières, Jean J; Ford, Ian I; Forouhi, Nita G NG; Forrester, Terrence T; Franco, Oscar H OH; Gansevoort, Ron T RT; Gejman, Pablo V PV; Gieger, Christian C; Gottesman, Omri O; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hall, Alistair S AS; Harris, Tamara B TB; Hattersley, Andrew T AT; Hicks, Andrew A AA; Hindorff, Lucia A LA; Hingorani, Aroon D AD; Hofman, Albert A; Homuth, Georg G; Hovingh, G Kees GK; Humphries, Steve E SE; Hunt, Steven C SC; Hyppönen, Elina E; Illig, Thomas T; Jacobs, Kevin B KB; Jarvelin, Marjo-Riitta MR; Jöckel, Karl-Heinz KH; Johansen, Berit B; Jousilahti, Pekka P; Jukema, J Wouter JW; Jula, Antti M AM; Kaprio, Jaakko J; Kastelein, John J P JJP; Keinanen-Kiukaanniemi, Sirkka M SM; Kiemeney, Lambertus A LA; Knekt, Paul P; Kooner, Jaspal S JS; Kooperberg, Charles C; Kovacs, Peter P; Kraja, Aldi T AT; Kumari, Meena M; Kuusisto, Johanna J; Lakka, Timo A TA; Langenberg, Claudia C; Marchand, Loic Le LL; Lehtimäki, Terho T; Lyssenko, Valeriya V; Männistö, Satu S; Marette, André A; Matise, Tara C TC; McKenzie, Colin A CA; McKnight, Barbara B; Moll, Frans L FL; Morris, Andrew D AD; Morris, Andrew P AP; Murray, Jeffrey C JC; Nelis, Mari M; Ohlsson, Claes C; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Madden, Pamela A F PAF; Pasterkamp, Gerard G; Peden, John F JF; Peters, Annette A; Postma, Dirkje S DS; Pramstaller, Peter P PP; Price, Jackie F JF; Qi, Lu L; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rice, Treva K TK; Ridker, Paul M PM; Rioux, John D JD; Ritchie, Marylyn D MD; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Saramies, Jouko J; Sarzynski, Mark A MA; Schunkert, Heribert H; Schwarz, Peter E H PEH; Sever, Peter P; Shuldiner, Alan R AR; Sinisalo, Juha J; Stolk, Ronald P RP; Strauch, Konstantin K; Tönjes, Anke A; Trégouët, David-Alexandre DA; Tremblay, Angelo A; Tremoli, Elena E; Virtamo, Jarmo J; Vohl, Marie-Claude MC; Völker, Uwe U; Waeber, Gérard G; Willemsen, Gonneke G; Witteman, Jacqueline C JC; Zillikens, M Carola MC; Adair, Linda S LS; Amouyel, Philippe P; Asselbergs, Folkert W FW; Assimes, Themistocles L TL; Bochud, Murielle M; Boehm, Bernhard O BO; Boerwinkle, Eric E; Bornstein, Stefan R SR; Bottinger, Erwin P EP; Bouchard, Claude C; Cauchi, Stéphane S; Chambers, John C JC; Chanock, Stephen J SJ; Cooper, Richard S RS; de Bakker, Paul I W PIW; Dedoussis, George G; Ferrucci, Luigi L; Franks, Paul W PW; Froguel, Philippe P; Groop, Leif C LC; Haiman, Christopher A CA; Hamsten, Anders A; Hui, Jennie J; Hunter, David J DJ; Hveem, Kristian K; Kaplan, Robert C RC; Kivimaki, Mika M; Kuh, Diana D; Laakso, Markku M; Liu, Yongmei Y; Martin, Nicholas G NG; März, Winfried W; Melbye, Mads M; Metspalu, Andres A; Moebus, Susanne S; Munroe, Patricia B PB; Njølstad, Inger I; Oostra, Ben A BA; Palmer, Colin N A CNA; Pedersen, Nancy L NL; Perola, Markus M; Pérusse, Louis L; Peters, Ulrike U; Power, Chris C; Quertermous, Thomas T; Rauramaa, Rainer R; Rivadeneira, Fernando F; Saaristo, Timo E TE; Saleheen, Danish D; Sattar, Naveed N; Schadt, Eric E EE; Schlessinger, David D; Slagboom, P Eline PE; Snieder, Harold H; Spector, Tim D TD; Thorsteinsdottir, Unnur U; Stumvoll, Michael M; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van der Harst, Pim P; Walker, Mark M; Wallaschofski, Henri H; Wareham, Nicholas J NJ; Watkins, Hugh H; Weir, David R DR; Wichmann, H-Erich HE; Wilson, James F JF; Zanen, Pieter P; Borecki, Ingrid B IB; Deloukas, Panos P; Fox, Caroline S CS; Heid, Iris M IM; O'Connell, Jeffrey R JR; Strachan, David P DP; Stefansson, Kari K; van Duijn, Cornelia M CM; Abecasis, Gonçalo R GR; Franke, Lude L; Frayling, Timothy M TM; McCarthy, Mark I MI; Visscher, Peter M PM; Scherag, André A; Willer, Cristen J CJ; Boehnke, Michael M; Mohlke, Karen L KL; Lindgren, Cecilia M CM; Beckmann, Jacques S JS; Barroso, Inês I; North, Kari E KE; Ingelsson, Erik E; Hirschhorn, Joel N JN; Loos, Ruth J F RJF; Speliotes, Elizabeth K EK
Publication Date: 2015-02-12

Variant appearance in text: rs2307111
PubMed Link: 25673413
Variant Present in the following documents:
  • Main text
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs2307111
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 5
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 8
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 4
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs2307111
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs2307111
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

Nature Genetics
Berndt, Sonja I SI; Gustafsson, Stefan S; Mägi, Reedik R; Ganna, Andrea A; Wheeler, Eleanor E; Feitosa, Mary F MF; Justice, Anne E AE; Monda, Keri L KL; Croteau-Chonka, Damien C DC; Day, Felix R FR; Esko, Tõnu T; Fall, Tove T; Ferreira, Teresa T; Gentilini, Davide D; Jackson, Anne U AU; Luan, Jian'an J; Randall, Joshua C JC; Vedantam, Sailaja S; Willer, Cristen J CJ; Winkler, Thomas W TW; Wood, Andrew R AR; Workalemahu, Tsegaselassie T; Hu, Yi-Juan YJ; Lee, Sang Hong SH; Liang, Liming L; Lin, Dan-Yu DY; Min, Josine L JL; Neale, Benjamin M BM; Thorleifsson, Gudmar G; Yang, Jian J; Albrecht, Eva E; Amin, Najaf N; Bragg-Gresham, Jennifer L JL; Cadby, Gemma G; den Heijer, Martin M; Eklund, Niina N; Fischer, Krista K; Goel, Anuj A; Hottenga, Jouke-Jan JJ; Huffman, Jennifer E JE; Jarick, Ivonne I; Johansson, Åsa Å; Johnson, Toby T; Kanoni, Stavroula S; Kleber, Marcus E ME; König, Inke R IR; Kristiansson, Kati K; Kutalik, Zoltán Z; Lamina, Claudia C; Lecoeur, Cecile C; Li, Guo G; Mangino, Massimo M; McArdle, Wendy L WL; Medina-Gomez, Carolina C; Müller-Nurasyid, Martina M; Ngwa, Julius S JS; Nolte, Ilja M IM; Paternoster, Lavinia L; Pechlivanis, Sonali S; Perola, Markus M; Peters, Marjolein J MJ; Preuss, Michael M; Rose, Lynda M LM; Shi, Jianxin J; Shungin, Dmitry D; Smith, Albert Vernon AV; Strawbridge, Rona J RJ; Surakka, Ida I; Teumer, Alexander A; Trip, Mieke D MD; Tyrer, Jonathan J; Van Vliet-Ostaptchouk, Jana V JV; Vandenput, Liesbeth L; Waite, Lindsay L LL; Zhao, Jing Hua JH; Absher, Devin D; Asselbergs, Folkert W FW; Atalay, Mustafa M; Attwood, Antony P AP; Balmforth, Anthony J AJ; Basart, Hanneke H; Beilby, John J; Bonnycastle, Lori L LL; Brambilla, Paolo P; Bruinenberg, Marcel M; Campbell, Harry H; Chasman, Daniel I DI; Chines, Peter S PS; Collins, Francis S FS; Connell, John M JM; Cookson, William O WO; de Faire, Ulf U; de Vegt, Femmie F; Dei, Mariano M; Dimitriou, Maria M; Edkins, Sarah S; Estrada, Karol K; Evans, David M DM; Farrall, Martin M; Ferrario, Marco M MM; Ferrières, Jean J; Franke, Lude L; Frau, Francesca F; Gejman, Pablo V PV; Grallert, Harald H; Grönberg, Henrik H; Gudnason, Vilmundur V; Hall, Alistair S AS; Hall, Per P; Hartikainen, Anna-Liisa AL; Hayward, Caroline C; Heard-Costa, Nancy L NL; Heath, Andrew C AC; Hebebrand, Johannes J; Homuth, Georg G; Hu, Frank B FB; Hunt, Sarah E SE; Hyppönen, Elina E; Iribarren, Carlos C; Jacobs, Kevin B KB; Jansson, John-Olov JO; Jula, Antti A; Kähönen, Mika M; Kathiresan, Sekar S; Kee, Frank F; Khaw, Kay-Tee KT; Kivimäki, Mika M; Koenig, Wolfgang W; Kraja, Aldi T AT; Kumari, Meena M; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laitinen, Jaana H JH; Lakka, Timo A TA; Langenberg, Claudia C; Launer, Lenore J LJ; Lind, Lars L; Lindström, Jaana J; Liu, Jianjun J; Liuzzi, Antonio A; Lokki, Marja-Liisa ML; Lorentzon, Mattias M; Madden, Pamela A PA; Magnusson, Patrik K PK; Manunta, Paolo P; Marek, Diana D; März, Winfried W; Mateo Leach, Irene I; McKnight, Barbara B; Medland, Sarah E SE; Mihailov, Evelin E; Milani, Lili L; Montgomery, Grant W GW; Mooser, Vincent V; Mühleisen, Thomas W TW; Munroe, Patricia B PB; Musk, Arthur W AW; Narisu, Narisu N; Navis, Gerjan G; Nicholson, George G; Nohr, Ellen A EA; Ong, Ken K KK; Oostra, Ben A BA; Palmer, Colin N A CN; Palotie, Aarno A; Peden, John F JF; Pedersen, Nancy N; Peters, Annette A; Polasek, Ozren O; Pouta, Anneli A; Pramstaller, Peter P PP; Prokopenko, Inga I; Pütter, Carolin C; Radhakrishnan, Aparna A; Raitakari, Olli O; Rendon, Augusto A; Rivadeneira, Fernando F; Rudan, Igor I; Saaristo, Timo E TE; Sambrook, Jennifer G JG; Sanders, Alan R AR; Sanna, Serena S; Saramies, Jouko J; Schipf, Sabine S; Schreiber, Stefan S; Schunkert, Heribert H; Shin, So-Youn SY; Signorini, Stefano S; Sinisalo, Juha J; Skrobek, Boris B; Soranzo, Nicole N; Stančáková, Alena A; Stark, Klaus K; Stephens, Jonathan C JC; Stirrups, Kathleen K; Stolk, Ronald P RP; Stumvoll, Michael M; Swift, Amy J AJ; Theodoraki, Eirini V EV; Thorand, Barbara B; Tregouet, David-Alexandre DA; Tremoli, Elena E; Van der Klauw, Melanie M MM; van Meurs, Joyce B J JB; Vermeulen, Sita H SH; Viikari, Jorma J; Virtamo, Jarmo J; Vitart, Veronique V; Waeber, Gérard G; Wang, Zhaoming Z; Widén, Elisabeth E; Wild, Sarah H SH; Willemsen, Gonneke G; Winkelmann, Bernhard R BR; Witteman, Jacqueline C M JC; Wolffenbuttel, Bruce H R BH; Wong, Andrew A; Wright, Alan F AF; Zillikens, M Carola MC; Amouyel, Philippe P; Boehm, Bernhard O BO; Boerwinkle, Eric E; Boomsma, Dorret I DI; Caulfield, Mark J MJ; Chanock, Stephen J SJ; Cupples, L Adrienne LA; Cusi, Daniele D; Dedoussis, George V GV; Erdmann, Jeanette J; Eriksson, Johan G JG; Franks, Paul W PW; Froguel, Philippe P; Gieger, Christian C; Gyllensten, Ulf U; Hamsten, Anders A; Harris, Tamara B TB; Hengstenberg, Christian C; Hicks, Andrew A AA; Hingorani, Aroon A; Hinney, Anke A; Hofman, Albert A; Hovingh, Kees G KG; Hveem, Kristian K; Illig, Thomas T; Jarvelin, Marjo-Riitta MR; Jöckel, Karl-Heinz KH; Keinanen-Kiukaanniemi, Sirkka M SM; Kiemeney, Lambertus A LA; Kuh, Diana D; Laakso, Markku M; Lehtimäki, Terho T; Levinson, Douglas F DF; Martin, Nicholas G NG; Metspalu, Andres A; Morris, Andrew D AD; Nieminen, Markku S MS; Njølstad, Inger I; Ohlsson, Claes C; Oldehinkel, Albertine J AJ; Ouwehand, Willem H WH; Palmer, Lyle J LJ; Penninx, Brenda B; Power, Chris C; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Rauramaa, Rainer R; Ridker, Paul M PM; Ripatti, Samuli S; Salomaa, Veikko V; Samani, Nilesh J NJ; Snieder, Harold H; Sørensen, Thorkild I A TI; Spector, Timothy D TD; Stefansson, Kari K; Tönjes, Anke A; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van der Harst, Pim P; Vollenweider, Peter P; Wallaschofski, Henri H; Wareham, Nicholas J NJ; Watkins, Hugh H; Wichmann, H-Erich HE; Wilson, James F JF; Abecasis, Goncalo R GR; Assimes, Themistocles L TL; Barroso, Inês I; Boehnke, Michael M; Borecki, Ingrid B IB; Deloukas, Panos P; Fox, Caroline S CS; Frayling, Timothy T; Groop, Leif C LC; Haritunian, Talin T; Heid, Iris M IM; Hunter, David D; Kaplan, Robert C RC; Karpe, Fredrik F; Moffatt, Miriam F MF; Mohlke, Karen L KL; O'Connell, Jeffrey R JR; Pawitan, Yudi Y; Schadt, Eric E EE; Schlessinger, David D; Steinthorsdottir, Valgerdur V; Strachan, David P DP; Thorsteinsdottir, Unnur U; van Duijn, Cornelia M CM; Visscher, Peter M PM; Di Blasio, Anna Maria AM; Hirschhorn, Joel N JN; Lindgren, Cecilia M CM; Morris, Andrew P AP; Meyre, David D; Scherag, André A; McCarthy, Mark I MI; Speliotes, Elizabeth K EK; North, Kari E KE; Loos, Ruth J F RJ; Ingelsson, Erik E
Publication Date: 2013-05

Variant appearance in text: rs2307111
PubMed Link: 23563607
Variant Present in the following documents:
  • NIHMS536922-supplement-1.pdf
View BVdb publication page



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

Nature Genetics
Speliotes, Elizabeth K EK; Willer, Cristen J CJ; Berndt, Sonja I SI; Monda, Keri L KL; Thorleifsson, Gudmar G; Jackson, Anne U AU; Lango Allen, Hana H; Lindgren, Cecilia M CM; Luan, Jian'an J; Mägi, Reedik R; Randall, Joshua C JC; Vedantam, Sailaja S; Winkler, Thomas W TW; Qi, Lu L; Workalemahu, Tsegaselassie T; Heid, Iris M IM; Steinthorsdottir, Valgerdur V; Stringham, Heather M HM; Weedon, Michael N MN; Wheeler, Eleanor E; Wood, Andrew R AR; Ferreira, Teresa T; Weyant, Robert J RJ; Segrè, Ayellet V AV; Estrada, Karol K; Liang, Liming L; Nemesh, James J; Park, Ju-Hyun JH; Gustafsson, Stefan S; Kilpeläinen, Tuomas O TO; Yang, Jian J; Bouatia-Naji, Nabila N; Esko, Tõnu T; Feitosa, Mary F MF; Kutalik, Zoltán Z; Mangino, Massimo M; Raychaudhuri, Soumya S; Scherag, Andre A; Smith, Albert Vernon AV; Welch, Ryan R; Zhao, Jing Hua JH; Aben, Katja K KK; Absher, Devin M DM; Amin, Najaf N; Dixon, Anna L AL; Fisher, Eva E; Glazer, Nicole L NL; Goddard, Michael E ME; Heard-Costa, Nancy L NL; Hoesel, Volker V; Hottenga, Jouke-Jan JJ; Johansson, Asa A; Johnson, Toby T; Ketkar, Shamika S; Lamina, Claudia C; Li, Shengxu S; Moffatt, Miriam F MF; Myers, Richard H RH; Narisu, Narisu N; Perry, John R B JR; Peters, Marjolein J MJ; Preuss, Michael M; Ripatti, Samuli S; Rivadeneira, Fernando F; Sandholt, Camilla C; Scott, Laura J LJ; Timpson, Nicholas J NJ; Tyrer, Jonathan P JP; van Wingerden, Sophie S; Watanabe, Richard M RM; White, Charles C CC; Wiklund, Fredrik F; Barlassina, Christina C; Chasman, Daniel I DI; Cooper, Matthew N MN; Jansson, John-Olov JO; Lawrence, Robert W RW; Pellikka, Niina N; Prokopenko, Inga I; Shi, Jianxin J; Thiering, Elisabeth E; Alavere, Helene H; Alibrandi, Maria T S MT; Almgren, Peter P; Arnold, Alice M AM; Aspelund, Thor T; Atwood, Larry D LD; Balkau, Beverley B; Balmforth, Anthony J AJ; Bennett, Amanda J AJ; Ben-Shlomo, Yoav Y; Bergman, Richard N RN; Bergmann, Sven S; Biebermann, Heike H; Blakemore, Alexandra I F AI; Boes, Tanja T; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Brown, Morris J MJ; Buchanan, Thomas A TA; Busonero, Fabio F; Campbell, Harry H; Cappuccio, Francesco P FP; Cavalcanti-Proença, Christine C; Chen, Yii-Der Ida YD; Chen, Chih-Mei CM; Chines, Peter S PS; Clarke, Robert R; Coin, Lachlan L; Connell, John J; Day, Ian N M IN; den Heijer, Martin M; Duan, Jubao J; Ebrahim, Shah S; Elliott, Paul P; Elosua, Roberto R; Eiriksdottir, Gudny G; Erdos, Michael R MR; Eriksson, Johan G JG; Facheris, Maurizio F MF; Felix, Stephan B SB; Fischer-Posovszky, Pamela P; Folsom, Aaron R AR; Friedrich, Nele N; Freimer, Nelson B NB; Fu, Mao M; Gaget, Stefan S; Gejman, Pablo V PV; Geus, Eco J C EJ; Gieger, Christian C; Gjesing, Anette P AP; Goel, Anuj A; Goyette, Philippe P; Grallert, Harald H; Grässler, Jürgen J; Greenawalt, Danielle M DM; Groves, Christopher J CJ; Gudnason, Vilmundur V; Guiducci, Candace C; Hartikainen, Anna-Liisa AL; Hassanali, Neelam N; Hall, Alistair S AS; Havulinna, Aki S AS; Hayward, Caroline C; Heath, Andrew C AC; Hengstenberg, Christian C; Hicks, Andrew A AA; Hinney, Anke A; Hofman, Albert A; Homuth, Georg G; Hui, Jennie J; Igl, Wilmar W; Iribarren, Carlos C; Isomaa, Bo B; Jacobs, Kevin B KB; Jarick, Ivonne I; Jewell, Elizabeth E; John, Ulrich U; Jørgensen, Torben T; Jousilahti, Pekka P; Jula, Antti A; Kaakinen, Marika M; Kajantie, Eero E; Kaplan, Lee M LM; Kathiresan, Sekar S; Kettunen, Johannes J; Kinnunen, Leena L; Knowles, Joshua W JW; Kolcic, Ivana I; König, Inke R IR; Koskinen, Seppo S; Kovacs, Peter P; Kuusisto, Johanna J; Kraft, Peter P; Kvaløy, Kirsti K; Laitinen, Jaana J; Lantieri, Olivier O; Lanzani, Chiara C; Launer, Lenore J LJ; Lecoeur, Cecile C; Lehtimäki, Terho T; Lettre, Guillaume G; Liu, Jianjun J; Lokki, Marja-Liisa ML; Lorentzon, Mattias M; Luben, Robert N RN; Ludwig, Barbara B; , ; Manunta, Paolo P; Marek, Diana D; Marre, Michel M; Martin, Nicholas G NG; McArdle, Wendy L WL; McCarthy, Anne A; McKnight, Barbara B; Meitinger, Thomas T; Melander, Olle O; Meyre, David D; Midthjell, Kristian K; Montgomery, Grant W GW; Morken, Mario A MA; Morris, Andrew P AP; Mulic, Rosanda R; Ngwa, Julius S JS; Nelis, Mari M; Neville, Matt J MJ; Nyholt, Dale R DR; O'Donnell, Christopher J CJ; O'Rahilly, Stephen S; Ong, Ken K KK; Oostra, Ben B; Paré, Guillaume G; Parker, Alex N AN; Perola, Markus M; Pichler, Irene I; Pietiläinen, Kirsi H KH; Platou, Carl G P CG; Polasek, Ozren O; Pouta, Anneli A; Rafelt, Suzanne S; Raitakari, Olli O; Rayner, Nigel W NW; Ridderstråle, Martin M; Rief, Winfried W; Ruokonen, Aimo A; Robertson, Neil R NR; Rzehak, Peter P; Salomaa, Veikko V; Sanders, Alan R AR; Sandhu, Manjinder S MS; Sanna, Serena S; Saramies, Jouko J; Savolainen, Markku J MJ; Scherag, Susann S; Schipf, Sabine S; Schreiber, Stefan S; Schunkert, Heribert H; Silander, Kaisa K; Sinisalo, Juha J; Siscovick, David S DS; Smit, Jan H JH; Soranzo, Nicole N; Sovio, Ulla U; Stephens, Jonathan J; Surakka, Ida I; Swift, Amy J AJ; Tammesoo, Mari-Liis ML; Tardif, Jean-Claude JC; Teder-Laving, Maris M; Teslovich, Tanya M TM; Thompson, John R JR; Thomson, Brian B; Tönjes, Anke A; Tuomi, Tiinamaija T; van Meurs, Joyce B J JB; van Ommen, Gert-Jan GJ; Vatin, Vincent V; Viikari, Jorma J; Visvikis-Siest, Sophie S; Vitart, Veronique V; Vogel, Carla I G CI; Voight, Benjamin F BF; Waite, Lindsay L LL; Wallaschofski, Henri H; Walters, G Bragi GB; Widen, Elisabeth E; Wiegand, Susanna S; Wild, Sarah H SH; Willemsen, Gonneke G; Witte, Daniel R DR; Witteman, Jacqueline C JC; Xu, Jianfeng J; Zhang, Qunyuan Q; Zgaga, Lina L; Ziegler, Andreas A; Zitting, Paavo P; Beilby, John P JP; Farooqi, I Sadaf IS; Hebebrand, Johannes J; Huikuri, Heikki V HV; James, Alan L AL; Kähönen, Mika M; Levinson, Douglas F DF; Macciardi, Fabio F; Nieminen, Markku S MS; Ohlsson, Claes C; Palmer, Lyle J LJ; Ridker, Paul M PM; Stumvoll, Michael M; Beckmann, Jacques S JS; Boeing, Heiner H; Boerwinkle, Eric E; Boomsma, Dorret I DI; Caulfield, Mark J MJ; Chanock, Stephen J SJ; Collins, Francis S FS; Cupples, L Adrienne LA; Smith, George Davey GD; Erdmann, Jeanette J; Froguel, Philippe P; Grönberg, Henrik H; Gyllensten, Ulf U; Hall, Per P; Hansen, Torben T; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayes, Richard B RB; Heinrich, Joachim J; Hu, Frank B FB; Hveem, Kristian K; Illig, Thomas T; Jarvelin, Marjo-Riitta MR; Kaprio, Jaakko J; Karpe, Fredrik F; Khaw, Kay-Tee KT; Kiemeney, Lambertus A LA; Krude, Heiko H; Laakso, Markku M; Lawlor, Debbie A DA; Metspalu, Andres A; Munroe, Patricia B PB; Ouwehand, Willem H WH; Pedersen, Oluf O; Penninx, Brenda W BW; Peters, Annette A; Pramstaller, Peter P PP; Quertermous, Thomas T; Reinehr, Thomas T; Rissanen, Aila A; Rudan, Igor I; Samani, Nilesh J NJ; Schwarz, Peter E H PE; Shuldiner, Alan R AR; Spector, Timothy D TD; Tuomilehto, Jaakko J; Uda, Manuela M; Uitterlinden, André A; Valle, Timo T TT; Wabitsch, Martin M; Waeber, Gérard G; Wareham, Nicholas J NJ; Watkins, Hugh H; , ; Wilson, James F JF; Wright, Alan F AF; Zillikens, M Carola MC; Chatterjee, Nilanjan N; McCarroll, Steven A SA; Purcell, Shaun S; Schadt, Eric E EE; Visscher, Peter M PM; Assimes, Themistocles L TL; Borecki, Ingrid B IB; Deloukas, Panos P; Fox, Caroline S CS; Groop, Leif C LC; Haritunians, Talin T; Hunter, David J DJ; Kaplan, Robert C RC; Mohlke, Karen L KL; O'Connell, Jeffrey R JR; Peltonen, Leena L; Schlessinger, David D; Strachan, David P DP; van Duijn, Cornelia M CM; Wichmann, H-Erich HE; Frayling, Timothy M TM; Thorsteinsdottir, Unnur U; Abecasis, Gonçalo R GR; Barroso, Inês I; Boehnke, Michael M; Stefansson, Kari K; North, Kari E KE; McCarthy, Mark I MI; Hirschhorn, Joel N JN; Ingelsson, Erik E; Loos, Ruth J F RJ
Publication Date: 2010-11

Variant appearance in text: rs2307111
PubMed Link: 20935630
Variant Present in the following documents:
  • NIHMS237282-supplement-1.pdf
View BVdb publication page