ATP2A1 c.219+561C>T

Variant ID: 16-28891465-C-T

NM_004320.4(ATP2A1):c.219+561C>T

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs8055138
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs8055138
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs8055138
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: ATP2A1: 219+561C>T; rs8055138
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI.

Translational Psychiatry
Pisanu, Claudia C; Williams, Michael J MJ; Ciuculete, Diana M DM; Olivo, Gaia G; Del Zompo, Maria M; Squassina, Alessio A; Schiöth, Helgi B HB
Publication Date: 2019-11-21

Variant appearance in text: rs8055138
PubMed Link: 31754094
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.

American Journal Of Human Genetics
Kraja, Aldi T AT; Liu, Chunyu C; Fetterman, Jessica L JL; Graff, Mariaelisa M; Have, Christian Theil CT; Gu, Charles C; Yanek, Lisa R LR; Feitosa, Mary F MF; Arking, Dan E DE; Chasman, Daniel I DI; Young, Kristin K; Ligthart, Symen S; Hill, W David WD; Weiss, Stefan S; Luan, Jian'an J; Giulianini, Franco F; Li-Gao, Ruifang R; Hartwig, Fernando P FP; Lin, Shiow J SJ; Wang, Lihua L; Richardson, Tom G TG; Yao, Jie J; Fernandez, Eliana P EP; Ghanbari, Mohsen M; Wojczynski, Mary K MK; Lee, Wen-Jane WJ; Argos, Maria M; Armasu, Sebastian M SM; Barve, Ruteja A RA; Ryan, Kathleen A KA; An, Ping P; Baranski, Thomas J TJ; Bielinski, Suzette J SJ; Bowden, Donald W DW; Broeckel, Ulrich U; Christensen, Kaare K; Chu, Audrey Y AY; Corley, Janie J; Cox, Simon R SR; Uitterlinden, Andre G AG; Rivadeneira, Fernando F; Cropp, Cheryl D CD; Daw, E Warwick EW; van Heemst, Diana D; de Las Fuentes, Lisa L; Gao, He H; Tzoulaki, Ioanna I; Ahluwalia, Tarunveer S TS; de Mutsert, Renée R; Emery, Leslie S LS; Erzurumluoglu, A Mesut AM; Perry, James A JA; Fu, Mao M; Forouhi, Nita G NG; Gu, Zhenglong Z; Hai, Yang Y; Harris, Sarah E SE; Hemani, Gibran G; Hunt, Steven C SC; Irvin, Marguerite R MR; Jonsson, Anna E AE; Justice, Anne E AE; Kerrison, Nicola D ND; Larson, Nicholas B NB; Lin, Keng-Hung KH; Love-Gregory, Latisha D LD; Mathias, Rasika A RA; Lee, Joseph H JH; Nauck, Matthias M; Noordam, Raymond R; Ong, Ken K KK; Pankow, James J; Patki, Amit A; Pattie, Alison A; Petersmann, Astrid A; Qi, Qibin Q; Ribel-Madsen, Rasmus R; Rohde, Rebecca R; Sandow, Kevin K; Schnurr, Theresia M TM; Sofer, Tamar T; Starr, John M JM; Taylor, Adele M AM; Teumer, Alexander A; Timpson, Nicholas J NJ; de Haan, Hugoline G HG; Wang, Yujie Y; Weeke, Peter E PE; Williams, Christine C; Wu, Hongsheng H; Yang, Wei W; Zeng, Donglin D; Witte, Daniel R DR; Weir, Bruce S BS; Wareham, Nicholas J NJ; Vestergaard, Henrik H; Turner, Stephen T ST; Torp-Pedersen, Christian C; Stergiakouli, Evie E; Sheu, Wayne Huey-Herng WH; Rosendaal, Frits R FR; Ikram, M Arfan MA; Franco, Oscar H OH; Ridker, Paul M PM; Perls, Thomas T TT; Pedersen, Oluf O; Nohr, Ellen A EA; Newman, Anne B AB; Linneberg, Allan A; Langenberg, Claudia C; Kilpeläinen, Tuomas O TO; Kardia, Sharon L R SLR; Jørgensen, Marit E ME; Jørgensen, Torben T; Sørensen, Thorkild I A TIA; Homuth, Georg G; Hansen, Torben T; Goodarzi, Mark O MO; Deary, Ian J IJ; Christensen, Cramer C; Chen, Yii-Der Ida YI; Chakravarti, Aravinda A; Brandslund, Ivan I; Bonnelykke, Klaus K; Taylor, Kent D KD; Wilson, James G JG; Rodriguez, Santiago S; Davies, Gail G; Horta, Bernardo L BL; Thyagarajan, Bharat B; Rao, D C DC; Grarup, Niels N; Davila-Roman, Victor G VG; Hudson, Gavin G; Guo, Xiuqing X; Arnett, Donna K DK; Hayward, Caroline C; Vaidya, Dhananjay D; Mook-Kanamori, Dennis O DO; Tiwari, Hemant K HK; Levy, Daniel D; Loos, Ruth J F RJF; Dehghan, Abbas A; Elliott, Paul P; Malik, Afshan N AN; Scott, Robert A RA; Becker, Diane M DM; de Andrade, Mariza M; Province, Michael A MA; Meigs, James B JB; Rotter, Jerome I JI; North, Kari E KE
Publication Date: 2019-01-03

Variant appearance in text: rs8055138
PubMed Link: 30595373
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13

Variant appearance in text: rs8055138
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.

Nature Communications
Lu, Yingchang Y; Day, Felix R FR; Gustafsson, Stefan S; Buchkovich, Martin L ML; Na, Jianbo J; Bataille, Veronique V; Cousminer, Diana L DL; Dastani, Zari Z; Drong, Alexander W AW; Esko, Tõnu T; Evans, David M DM; Falchi, Mario M; Feitosa, Mary F MF; Ferreira, Teresa T; Hedman, Åsa K ÅK; Haring, Robin R; Hysi, Pirro G PG; Iles, Mark M MM; Justice, Anne E AE; Kanoni, Stavroula S; Lagou, Vasiliki V; Li, Rui R; Li, Xin X; Locke, Adam A; Lu, Chen C; Mägi, Reedik R; Perry, John R B JR; Pers, Tune H TH; Qi, Qibin Q; Sanna, Marianna M; Schmidt, Ellen M EM; Scott, William R WR; Shungin, Dmitry D; Teumer, Alexander A; Vinkhuyzen, Anna A E AA; Walker, Ryan W RW; Westra, Harm-Jan HJ; Zhang, Mingfeng M; Zhang, Weihua W; Zhao, Jing Hua JH; Zhu, Zhihong Z; Afzal, Uzma U; Ahluwalia, Tarunveer Singh TS; Bakker, Stephan J L SJ; Bellis, Claire C; Bonnefond, Amélie A; Borodulin, Katja K; Buchman, Aron S AS; Cederholm, Tommy T; Choh, Audrey C AC; Choi, Hyung Jin HJ; Curran, Joanne E JE; de Groot, Lisette C P G M LC; De Jager, Philip L PL; Dhonukshe-Rutten, Rosalie A M RA; Enneman, Anke W AW; Eury, Elodie E; Evans, Daniel S DS; Forsen, Tom T; Friedrich, Nele N; Fumeron, Frédéric F; Garcia, Melissa E ME; Gärtner, Simone S; Han, Bok-Ghee BG; Havulinna, Aki S AS; Hayward, Caroline C; Hernandez, Dena D; Hillege, Hans H; Ittermann, Till T; Kent, Jack W JW; Kolcic, Ivana I; Laatikainen, Tiina T; Lahti, Jari J; Mateo Leach, Irene I; Lee, Christine G CG; Lee, Jong-Young JY; Liu, Tian T; Liu, Youfang Y; Lobbens, Stéphane S; Loh, Marie M; Lyytikäinen, Leo-Pekka LP; Medina-Gomez, Carolina C; Michaëlsson, Karl K; Nalls, Mike A MA; Nielson, Carrie M CM; Oozageer, Laticia L; Pascoe, Laura L; Paternoster, Lavinia L; Polašek, Ozren O; Ripatti, Samuli S; Sarzynski, Mark A MA; Shin, Chan Soo CS; Narančić, Nina Smolej NS; Spira, Dominik D; Srikanth, Priya P; Steinhagen-Thiessen, Elisabeth E; Sung, Yun Ju YJ; Swart, Karin M A KM; Taittonen, Leena L; Tanaka, Toshiko T; Tikkanen, Emmi E; van der Velde, Nathalie N; van Schoor, Natasja M NM; Verweij, Niek N; Wright, Alan F AF; Yu, Lei L; Zmuda, Joseph M JM; Eklund, Niina N; Forrester, Terrence T; Grarup, Niels N; Jackson, Anne U AU; Kristiansson, Kati K; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Lichtner, Peter P; Luan, Jian'an J; Mahajan, Anubha A; Männistö, Satu S; Palmer, Cameron D CD; Ried, Janina S JS; Scott, Robert A RA; Stancáková, Alena A; Wagner, Peter J PJ; Demirkan, Ayse A; Döring, Angela A; Gudnason, Vilmundur V; Kiel, Douglas P DP; Kühnel, Brigitte B; Mangino, Massimo M; Mcknight, Barbara B; Menni, Cristina C; O'Connell, Jeffrey R JR; Oostra, Ben A BA; Shuldiner, Alan R AR; Song, Kijoung K; Vandenput, Liesbeth L; van Duijn, Cornelia M CM; Vollenweider, Peter P; White, Charles C CC; Boehnke, Michael M; Boettcher, Yvonne Y; Cooper, Richard S RS; Forouhi, Nita G NG; Gieger, Christian C; Grallert, Harald H; Hingorani, Aroon A; Jørgensen, Torben T; Jousilahti, Pekka P; Kivimaki, Mika M; Kumari, Meena M; Laakso, Markku M; Langenberg, Claudia C; Linneberg, Allan A; Luke, Amy A; Mckenzie, Colin A CA; Palotie, Aarno A; Pedersen, Oluf O; Peters, Annette A; Strauch, Konstantin K; Tayo, Bamidele O BO; Wareham, Nicholas J NJ; Bennett, David A DA; Bertram, Lars L; Blangero, John J; Blüher, Matthias M; Bouchard, Claude C; Campbell, Harry H; Cho, Nam H NH; Cummings, Steven R SR; Czerwinski, Stefan A SA; Demuth, Ilja I; Eckardt, Rahel R; Eriksson, Johan G JG; Ferrucci, Luigi L; Franco, Oscar H OH; Froguel, Philippe P; Gansevoort, Ron T RT; Hansen, Torben T; Harris, Tamara B TB; Hastie, Nicholas N; Heliövaara, Markku M; Hofman, Albert A; Jordan, Joanne M JM; Jula, Antti A; Kähönen, Mika M; Kajantie, Eero E; Knekt, Paul B PB; Koskinen, Seppo S; Kovacs, Peter P; Lehtimäki, Terho T; Lind, Lars L; Liu, Yongmei Y; Orwoll, Eric S ES; Osmond, Clive C; Perola, Markus M; Pérusse, Louis L; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rice, Treva K TK; Rivadeneira, Fernando F; Rudan, Igor I; Salomaa, Veikko V; Sørensen, Thorkild I A TI; Stumvoll, Michael M; Tönjes, Anke A; Towne, Bradford B; Tranah, Gregory J GJ; Tremblay, Angelo A; Uitterlinden, André G AG; van der Harst, Pim P; Vartiainen, Erkki E; Viikari, Jorma S JS; Vitart, Veronique V; Vohl, Marie-Claude MC; Völzke, Henry H; Walker, Mark M; Wallaschofski, Henri H; Wild, Sarah S; Wilson, James F JF; Yengo, Loïc L; Bishop, D Timothy DT; Borecki, Ingrid B IB; Chambers, John C JC; Cupples, L Adrienne LA; Dehghan, Abbas A; Deloukas, Panos P; Fatemifar, Ghazaleh G; Fox, Caroline C; Furey, Terrence S TS; Franke, Lude L; Han, Jiali J; Hunter, David J DJ; Karjalainen, Juha J; Karpe, Fredrik F; Kaplan, Robert C RC; Kooner, Jaspal S JS; McCarthy, Mark I MI; Murabito, Joanne M JM; Morris, Andrew P AP; Bishop, Julia A N JA; North, Kari E KE; Ohlsson, Claes C; Ong, Ken K KK; Prokopenko, Inga I; Richards, J Brent JB; Schadt, Eric E EE; Spector, Tim D TD; Widén, Elisabeth E; Willer, Cristen J CJ; Yang, Jian J; Ingelsson, Erik E; Mohlke, Karen L KL; Hirschhorn, Joel N JN; Pospisilik, John Andrew JA; Zillikens, M Carola MC; Lindgren, Cecilia C; Kilpeläinen, Tuomas Oskari TO; Loos, Ruth J F RJ
Publication Date: 2016-02-01

Variant appearance in text: rs8055138
PubMed Link: 26833246
Variant Present in the following documents:
  • ncomms10495-s1.pdf
View BVdb publication page



Modification of genetic influences on adiposity between 36 and 63 years of age by physical activity and smoking in the 1946 British Birth Cohort Study.

Nutrition & Diabetes
Johnson, W W; Ong, K K KK; Elks, C E CE; Wareham, N J NJ; Wong, A A; Muniz-Terrera, G G; Hardy, R R; ,
Publication Date: 2014-09-08

Variant appearance in text: rs8055138
PubMed Link: 25198238
Variant Present in the following documents:
  • Main text
  • nutd201433a.pdf
View BVdb publication page



Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.

Human Molecular Genetics
Graff, Mariaelisa M; Ngwa, Julius S JS; Workalemahu, Tsegaselassie T; Homuth, Georg G; Schipf, Sabine S; Teumer, Alexander A; Völzke, Henry H; Wallaschofski, Henri H; Abecasis, Goncalo R GR; Edward, Lakatta L; Francesco, Cucca C; Sanna, Serena S; Scheet, Paul P; Schlessinger, David D; Sidore, Carlo C; Xiao, Xiangjun X; Wang, Zhaoming Z; Chanock, Stephen J SJ; Jacobs, Kevin B KB; Hayes, Richard B RB; Hu, Frank F; Van Dam, Rob M RM; , ; Crout, Richard J RJ; Marazita, Mary L ML; Shaffer, John R JR; Atwood, Larry D LD; Fox, Caroline S CS; Heard-Costa, Nancy L NL; White, Charles C; Choh, Audrey C AC; Czerwinski, Stefan A SA; Demerath, Ellen W EW; Dyer, Thomas D TD; Towne, Bradford B; Amin, Najaf N; Oostra, Ben A BA; Van Duijn, Cornelia M CM; Zillikens, M Carola MC; Esko, Tõnu T; Nelis, Mari M; Nikopensius, Tit T; Metspalu, Andres A; Strachan, David P DP; Monda, Keri K; Qi, Lu L; North, Kari E KE; Cupples, L Adrienne LA; Gordon-Larsen, Penny P; Berndt, Sonja I SI
Publication Date: 2013-09-01

Variant appearance in text: rs8055138
PubMed Link: 23669352
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modelling BMI trajectories in children for genetic association studies.

Plos One
Warrington, Nicole M NM; Wu, Yan Yan YY; Pennell, Craig E CE; Marsh, Julie A JA; Beilin, Lawrence J LJ; Palmer, Lyle J LJ; Lye, Stephen J SJ; Briollais, Laurent L
Publication Date: 2013

Variant appearance in text: rs8055138
PubMed Link: 23349760
Variant Present in the following documents:
  • Main text
  • pone.0053897.pdf
View BVdb publication page



Adult obesity susceptibility variants are associated with greater childhood weight gain and a faster tempo of growth: the 1946 British Birth Cohort Study.

The American Journal Of Clinical Nutrition
Elks, Cathy E CE; Loos, Ruth J F RJ; Hardy, Rebecca R; Wills, Andrew K AK; Wong, Andrew A; Wareham, Nicholas J NJ; Kuh, Diana D; Ong, Ken K KK
Publication Date: 2012-05

Variant appearance in text: rs8055138
PubMed Link: 22456663
Variant Present in the following documents:
  • Main text
  • ajcn9551150.pdf
View BVdb publication page



Genetic susceptibility to obesity and related traits in childhood and adolescence: influence of loci identified by genome-wide association studies.

Diabetes
den Hoed, Marcel M; Ekelund, Ulf U; Brage, Søren S; Grontved, Anders A; Zhao, Jing Hua JH; Sharp, Stephen J SJ; Ong, Ken K KK; Wareham, Nicholas J NJ; Loos, Ruth J F RJ
Publication Date: 2010-11

Variant appearance in text: rs8055138
PubMed Link: 20724581
Variant Present in the following documents:
  • Main text
  • zdb2980.pdf
View BVdb publication page