TSEN15 c.177A>T ;(p.Q59H)

Variant ID: 1-184023529-A-T

NM_052965.2(TSEN15):c.177A>T;(p.Q59H)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues.

Arthritis Research & Therapy
Kehayova, Yulia S YS; Wilkinson, J Mark JM; Rice, Sarah J SJ; Loughlin, John J
Publication Date: 2023-05-19

Variant appearance in text: rs1046934
PubMed Link: 37208701
Variant Present in the following documents:
  • Main text
  • 13075_2023_Article_3066.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: TSEN15: Q59H
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine
Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y
Publication Date: 2022

Variant appearance in text: TSEN15: Q59H
PubMed Link: 36277747
Variant Present in the following documents:
  • Data_Sheet_1.xls, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: N/A
PubMed Link: 36241656
Variant Present in the following documents:
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: N/A
PubMed Link: 36075891
Variant Present in the following documents:
View BVdb publication page



A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2022-04-22

Variant appearance in text: TSEN15: Q59H
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: TSEN15: Q59H
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: N/A
PubMed Link: 33791233
Variant Present in the following documents:
View BVdb publication page



Identification of type 2 diabetes loci in 433,540 East Asian individuals.

Nature
Spracklen, Cassandra N CN; Horikoshi, Momoko M; Kim, Young Jin YJ; Lin, Kuang K; Bragg, Fiona F; Moon, Sanghoon S; Suzuki, Ken K; Tam, Claudia H T CHT; Tabara, Yasuharu Y; Kwak, Soo-Heon SH; Takeuchi, Fumihiko F; Long, Jirong J; Lim, Victor J Y VJY; Chai, Jin-Fang JF; Chen, Chien-Hsiun CH; Nakatochi, Masahiro M; Yao, Jie J; Choi, Hyeok Sun HS; Iyengar, Apoorva K AK; Perrin, Hannah J HJ; Brotman, Sarah M SM; van de Bunt, Martijn M; Gloyn, Anna L AL; Below, Jennifer E JE; Boehnke, Michael M; Bowden, Donald W DW; Chambers, John C JC; Mahajan, Anubha A; McCarthy, Mark I MI; Ng, Maggie C Y MCY; Petty, Lauren E LE; Zhang, Weihua W; Morris, Andrew P AP; Adair, Linda S LS; Akiyama, Masato M; Bian, Zheng Z; Chan, Juliana C N JCN; Chang, Li-Ching LC; Chee, Miao-Li ML; Chen, Yii-Der Ida YI; Chen, Yuan-Tsong YT; Chen, Zhengming Z; Chuang, Lee-Ming LM; Du, Shufa S; Gordon-Larsen, Penny P; Gross, Myron M; Guo, Xiuqing X; Guo, Yu Y; Han, Sohee S; Howard, Annie-Green AG; Huang, Wei W; Hung, Yi-Jen YJ; Hwang, Mi Yeong MY; Hwu, Chii-Min CM; Ichihara, Sahoko S; Isono, Masato M; Jang, Hye-Mi HM; Jiang, Guozhi G; Jonas, Jost B JB; Kamatani, Yoichiro Y; Katsuya, Tomohiro T; Kawaguchi, Takahisa T; Khor, Chiea-Chuen CC; Kohara, Katsuhiko K; Lee, Myung-Shik MS; Lee, Nanette R NR; Li, Liming L; Liu, Jianjun J; Luk, Andrea O AO; Lv, Jun J; Okada, Yukinori Y; Pereira, Mark A MA; Sabanayagam, Charumathi C; Shi, Jinxiu J; Shin, Dong Mun DM; So, Wing Yee WY; Takahashi, Atsushi A; Tomlinson, Brian B; Tsai, Fuu-Jen FJ; van Dam, Rob M RM; Xiang, Yong-Bing YB; Yamamoto, Ken K; Yamauchi, Toshimasa T; Yoon, Kyungheon K; Yu, Canqing C; Yuan, Jian-Min JM; Zhang, Liang L; Zheng, Wei W; Igase, Michiya M; Cho, Yoon Shin YS; Rotter, Jerome I JI; Wang, Ya-Xing YX; Sheu, Wayne H H WHH; Yokota, Mitsuhiro M; Wu, Jer-Yuarn JY; Cheng, Ching-Yu CY; Wong, Tien-Yin TY; Shu, Xiao-Ou XO; Kato, Norihiro N; Park, Kyong-Soo KS; Tai, E-Shyong ES; Matsuda, Fumihiko F; Koh, Woon-Puay WP; Ma, Ronald C W RCW; Maeda, Shiro S; Millwood, Iona Y IY; Lee, Juyoung J; Kadowaki, Takashi T; Walters, Robin G RG; Kim, Bong-Jo BJ; Mohlke, Karen L KL; Sim, Xueling X
Publication Date: 2020-06

Variant appearance in text: TSEN15: Q59H
PubMed Link: 32499647
Variant Present in the following documents:
  • NIHMS1570876-supplement-1570876_Supp_Tab1-13.xlsx, sheet 12
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: rs1046934
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
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: N/A
PubMed Link: 31597922
Variant Present in the following documents:
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: TSEN15: Q59H; rs1046934
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1046934
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: N/A
PubMed Link: 30784590
Variant Present in the following documents:
View BVdb publication page



Fasting and time of day independently modulate circadian rhythm relevant gene expression in adipose and skin tissue.

Bmc Genomics
Couto Alves, Alexessander A; Glastonbury, Craig A CA; El-Sayed Moustafa, Julia S JS; Small, Kerrin S KS
Publication Date: 2018-09-07

Variant appearance in text: rs1046934
PubMed Link: 30193568
Variant Present in the following documents:
  • Main text
  • 12864_2018_Article_4997.pdf
View BVdb publication page



Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan.

Scientific Reports
Lin, Ying-Ju YJ; Liao, Wen-Ling WL; Wang, Chung-Hsing CH; Tsai, Li-Ping LP; Tang, Chih-Hsin CH; Chen, Chien-Hsiun CH; Wu, Jer-Yuarn JY; Liang, Wen-Miin WM; Hsieh, Ai-Ru AR; Cheng, Chi-Fung CF; Chen, Jin-Hua JH; Chien, Wen-Kuei WK; Lin, Ting-Hsu TH; Wu, Chia-Ming CM; Liao, Chiu-Chu CC; Huang, Shao-Mei SM; Tsai, Fuu-Jen FJ
Publication Date: 2017-07-25

Variant appearance in text: rs1046934
PubMed Link: 28744006
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_6766.pdf
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: N/A
PubMed Link: 28535796
Variant Present in the following documents:
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: N/A
PubMed Link: 27512948
Variant Present in the following documents:
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: TSEN15: Q59H
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
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: rs1046934
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: N/A
PubMed Link: 26549847
Variant Present in the following documents:
View BVdb publication page



Emerging risk factors and the dose-response relationship between physical activity and lone atrial fibrillation: a prospective case-control study.

Europace : European Pacing, Arrhythmias, And Cardiac Electrophysiology : Journal Of The Working Groups On Cardiac Pacing, Arrhythmias, And Cardiac Cellular Electrophysiology Of The European Society Of Cardiology
Calvo, Naiara N; Ramos, Pablo P; Montserrat, Silvia S; Guasch, Eduard E; Coll-Vinent, Blanca B; Domenech, Mònica M; Bisbal, Felipe F; Hevia, Sara S; Vidorreta, Silvia S; Borras, Roger R; Falces, Carles C; Embid, Cristina C; Montserrat, Josep Maria JM; Berruezo, Antonio A; Coca, Antonio A; Sitges, Marta M; Brugada, Josep J; Mont, Lluís L
Publication Date: 2016-01

Variant appearance in text: rs1046934
PubMed Link: 26333377
Variant Present in the following documents:
  • Main text
View BVdb publication page



Seq2pathway: an R/Bioconductor package for pathway analysis of next-generation sequencing data.

Bioinformatics (Oxford, England)
Wang, Bin B; Cunningham, John M JM; Yang, Xinan Holly XH
Publication Date: 2015-09-15

Variant appearance in text: rs1046934
PubMed Link: 25979472
Variant Present in the following documents:
  • supp_btv289_seq2pathwaypackage_Suppl.pdf
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: N/A
PubMed Link: 25887915
Variant Present in the following documents:
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25390934
Variant Present in the following documents:
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: TSEN15: Q59H; rs1046934
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 11
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 6
View BVdb publication page



A novel common variant in DCST2 is associated with length in early life and height in adulthood.

Human Molecular Genetics
van der Valk, Ralf J P RJ; Kreiner-Møller, Eskil E; Kooijman, Marjolein N MN; Guxens, Mònica M; Stergiakouli, Evangelia E; Sääf, Annika A; Bradfield, Jonathan P JP; Geller, Frank F; Hayes, M Geoffrey MG; Cousminer, Diana L DL; Körner, Antje A; Thiering, Elisabeth E; Curtin, John A JA; Myhre, Ronny R; Huikari, Ville V; Joro, Raimo R; Kerkhof, Marjan M; Warrington, Nicole M NM; Pitkänen, Niina N; Ntalla, Ioanna I; Horikoshi, Momoko M; Veijola, Riitta R; Freathy, Rachel M RM; Teo, Yik-Ying YY; Barton, Sheila J SJ; Evans, David M DM; Kemp, John P JP; St Pourcain, Beate B; Ring, Susan M SM; Davey Smith, George G; Bergström, Anna A; Kull, Inger I; Hakonarson, Hakon H; Mentch, Frank D FD; Bisgaard, Hans H; Chawes, Bo B; Stokholm, Jakob J; Waage, Johannes J; Eriksen, Patrick P; Sevelsted, Astrid A; Melbye, Mads M; , ; van Duijn, Cornelia M CM; Medina-Gomez, Carolina C; Hofman, Albert A; de Jongste, Johan C JC; Taal, H Rob HR; Uitterlinden, André G AG; , ; Armstrong, Loren L LL; Eriksson, Johan J; Palotie, Aarno A; Bustamante, Mariona M; Estivill, Xavier X; Gonzalez, Juan R JR; Llop, Sabrina S; Kiess, Wieland W; Mahajan, Anubha A; Flexeder, Claudia C; Tiesler, Carla M T CM; Murray, Clare S CS; Simpson, Angela A; Magnus, Per P; Sengpiel, Verena V; Hartikainen, Anna-Liisa AL; Keinanen-Kiukaanniemi, Sirkka S; Lewin, Alexandra A; Da Silva Couto Alves, Alexessander A; Blakemore, Alexandra I AI; Buxton, Jessica L JL; Kaakinen, Marika M; Rodriguez, Alina A; Sebert, Sylvain S; Vaarasmaki, Marja M; Lakka, Timo T; Lindi, Virpi V; Gehring, Ulrike U; Postma, Dirkje S DS; Ang, Wei W; Newnham, John P JP; Lyytikäinen, Leo-Pekka LP; Pahkala, Katja K; Raitakari, Olli T OT; Panoutsopoulou, Kalliope K; Zeggini, Eleftheria E; Boomsma, Dorret I DI; Groen-Blokhuis, Maria M; Ilonen, Jorma J; Franke, Lude L; Hirschhorn, Joel N JN; Pers, Tune H TH; Liang, Liming L; Huang, Jinyan J; Hocher, Berthold B; Knip, Mikael M; Saw, Seang-Mei SM; Holloway, John W JW; Melén, Erik E; Grant, Struan F A SF; Feenstra, Bjarke B; Lowe, William L WL; Widén, Elisabeth E; Sergeyev, Elena E; Grallert, Harald H; Custovic, Adnan A; Jacobsson, Bo B; Jarvelin, Marjo-Riitta MR; Atalay, Mustafa M; Koppelman, Gerard H GH; Pennell, Craig E CE; Niinikoski, Harri H; Dedoussis, George V GV; Mccarthy, Mark I MI; Frayling, Timothy M TM; Sunyer, Jordi J; Timpson, Nicholas J NJ; Rivadeneira, Fernando F; Bønnelykke, Klaus K; Jaddoe, Vincent W V VW; ,
Publication Date: 2015-02-15

Variant appearance in text: rs1046934
PubMed Link: 25281659
Variant Present in the following documents:
  • supp_ddu510_ddu510supp.pdf
View BVdb publication page



Genetic variants related to height and risk of atrial fibrillation: the cardiovascular health study.

American Journal Of Epidemiology
Rosenberg, Michael A MA; Kaplan, Robert C RC; Siscovick, David S DS; Psaty, Bruce M BM; Heckbert, Susan R SR; Newton-Cheh, Christopher C; Mukamal, Kenneth J KJ
Publication Date: 2014-07-15

Variant appearance in text: rs1046934
PubMed Link: 24944287
Variant Present in the following documents:
  • Main text
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: N/A
PubMed Link: 24219164
Variant Present in the following documents:
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: rs1046934
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

Nature Genetics
Soler Artigas, María M; Loth, Daan W DW; Wain, Louise V LV; Gharib, Sina A SA; Obeidat, Ma'en M; Tang, Wenbo W; Zhai, Guangju G; Zhao, Jing Hua JH; Smith, Albert Vernon AV; Huffman, Jennifer E JE; Albrecht, Eva E; Jackson, Catherine M CM; Evans, David M DM; Cadby, Gemma G; Fornage, Myriam M; Manichaikul, Ani A; Lopez, Lorna M LM; Johnson, Toby T; Aldrich, Melinda C MC; Aspelund, Thor T; Barroso, Inês I; Campbell, Harry H; Cassano, Patricia A PA; Couper, David J DJ; Eiriksdottir, Gudny G; Franceschini, Nora N; Garcia, Melissa M; Gieger, Christian C; Gislason, Gauti Kjartan GK; Grkovic, Ivica I; Hammond, Christopher J CJ; Hancock, Dana B DB; Harris, Tamara B TB; Ramasamy, Adaikalavan A; Heckbert, Susan R SR; Heliövaara, Markku M; Homuth, Georg G; Hysi, Pirro G PG; James, Alan L AL; Jankovic, Stipan S; Joubert, Bonnie R BR; Karrasch, Stefan S; Klopp, Norman N; Koch, Beate B; Kritchevsky, Stephen B SB; Launer, Lenore J LJ; Liu, Yongmei Y; Loehr, Laura R LR; Lohman, Kurt K; Loos, Ruth J F RJ; Lumley, Thomas T; Al Balushi, Khalid A KA; Ang, Wei Q WQ; Barr, R Graham RG; Beilby, John J; Blakey, John D JD; Boban, Mladen M; Boraska, Vesna V; Brisman, Jonas J; Britton, John R JR; Brusselle, Guy G GG; Cooper, Cyrus C; Curjuric, Ivan I; Dahgam, Santosh S; Deary, Ian J IJ; Ebrahim, Shah S; Eijgelsheim, Mark M; Francks, Clyde C; Gaysina, Darya D; Granell, Raquel R; Gu, Xiangjun X; Hankinson, John L JL; Hardy, Rebecca R; Harris, Sarah E SE; Henderson, John J; Henry, Amanda A; Hingorani, Aroon D AD; Hofman, Albert A; Holt, Patrick G PG; Hui, Jennie J; Hunter, Michael L ML; Imboden, Medea M; Jameson, Karen A KA; Kerr, Shona M SM; Kolcic, Ivana I; Kronenberg, Florian F; Liu, Jason Z JZ; Marchini, Jonathan J; McKeever, Tricia T; Morris, Andrew D AD; Olin, Anna-Carin AC; Porteous, David J DJ; Postma, Dirkje S DS; Rich, Stephen S SS; Ring, Susan M SM; Rivadeneira, Fernando F; Rochat, Thierry T; Sayer, Avan Aihie AA; Sayers, Ian I; Sly, Peter D PD; Smith, George Davey GD; Sood, Akshay A; Starr, John M JM; Uitterlinden, André G AG; Vonk, Judith M JM; Wannamethee, S Goya SG; Whincup, Peter H PH; Wijmenga, Cisca C; Williams, O Dale OD; Wong, Andrew A; Mangino, Massimo M; Marciante, Kristin D KD; McArdle, Wendy L WL; Meibohm, Bernd B; Morrison, Alanna C AC; North, Kari E KE; Omenaas, Ernst E; Palmer, Lyle J LJ; Pietiläinen, Kirsi H KH; Pin, Isabelle I; Pola Sbreve Ek, Ozren O; Pouta, Anneli A; Psaty, Bruce M BM; Hartikainen, Anna-Liisa AL; Rantanen, Taina T; Ripatti, Samuli S; Rotter, Jerome I JI; Rudan, Igor I; Rudnicka, Alicja R AR; Schulz, Holger H; Shin, So-Youn SY; Spector, Tim D TD; Surakka, Ida I; Vitart, Veronique V; Völzke, Henry H; Wareham, Nicholas J NJ; Warrington, Nicole M NM; Wichmann, H-Erich HE; Wild, Sarah H SH; Wilk, Jemma B JB; Wjst, Matthias M; Wright, Alan F AF; Zgaga, Lina L; Zemunik, Tatijana T; Pennell, Craig E CE; Nyberg, Fredrik F; Kuh, Diana D; Holloway, John W JW; Boezen, H Marike HM; Lawlor, Debbie A DA; Morris, Richard W RW; Probst-Hensch, Nicole N; , ; , ; Kaprio, Jaakko J; Wilson, James F JF; Hayward, Caroline C; Kähönen, Mika M; Heinrich, Joachim J; Musk, Arthur W AW; Jarvis, Deborah L DL; Gläser, Sven S; Järvelin, Marjo-Riitta MR; Ch Stricker, Bruno H BH; Elliott, Paul P; O'Connor, George T GT; Strachan, David P DP; London, Stephanie J SJ; Hall, Ian P IP; Gudnason, Vilmundur V; Tobin, Martin D MD
Publication Date: 2011-09-25

Variant appearance in text: rs1046934
PubMed Link: 21946350
Variant Present in the following documents:
  • NIHMS335195-supplement-4.pdf
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Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.

Obesity (Silver Spring, Md.)
Croteau-Chonka, Damien C DC; Marvelle, Amanda F AF; Lange, Ethan M EM; Lee, Nanette R NR; Adair, Linda S LS; Lange, Leslie A LA; Mohlke, Karen L KL
Publication Date: 2011-05

Variant appearance in text: rs1046934
PubMed Link: 20966902
Variant Present in the following documents:
  • Main text
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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hindorff, Lucia A LA; Sethupathy, Praveen P; Junkins, Heather A HA; Ramos, Erin M EM; Mehta, Jayashri P JP; Collins, Francis S FS; Manolio, Teri A TA
Publication Date: 2009-06-09

Variant appearance in text: TSEN15: Q59H; rs1046934
PubMed Link: 19474294
Variant Present in the following documents:
  • Main text
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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: N/A
PubMed Link: 19139070
Variant Present in the following documents:
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