ABCA1 c.-18G>A

Variant ID: 9-107665978-C-T

NM_005502.3(ABCA1):c.-18G>A

This variant was identified in 32 publications

View GRCh38 version.




Publications:


Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Jama Network Open
Yang, Wenjian W; Karol, Seth E SE; Hoshitsuki, Keito K; Lee, Shawn S; Larsen, Eric C EC; Winick, Naomi N; Carroll, William L WL; Loh, Mignon L ML; Raetz, Elizabeth A EA; Hunger, Stephen P SP; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Devidas, Meenakshi M; Relling, Mary V MV; Yang, Jun J JJ
Publication Date: 2022-12-01

Variant appearance in text: rs1800978
PubMed Link: 36580335
Variant Present in the following documents:
  • jamanetwopen-e2248803-s001.pdf
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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Nature Genetics
Holstege, Henne H; Hulsman, Marc M; Charbonnier, Camille C; Grenier-Boley, Benjamin B; Quenez, Olivier O; Grozeva, Detelina D; van Rooij, Jeroen G J JGJ; Sims, Rebecca R; Ahmad, Shahzad S; Amin, Najaf N; Norsworthy, Penny J PJ; Dols-Icardo, Oriol O; Hummerich, Holger H; Kawalia, Amit A; Amouyel, Philippe P; Beecham, Gary W GW; Berr, Claudine C; Bis, Joshua C JC; Boland, Anne A; Bossù, Paola P; Bouwman, Femke F; Bras, Jose J; Campion, Dominique D; Cochran, J Nicholas JN; Daniele, Antonio A; Dartigues, Jean-François JF; Debette, Stéphanie S; Deleuze, Jean-François JF; Denning, Nicola N; DeStefano, Anita L AL; Farrer, Lindsay A LA; Fernández, Maria Victoria MV; Fox, Nick C NC; Galimberti, Daniela D; Genin, Emmanuelle E; Gille, Johan J P JJP; Le Guen, Yann Y; Guerreiro, Rita R; Haines, Jonathan L JL; Holmes, Clive C; Ikram, M Arfan MA; Ikram, M Kamran MK; Jansen, Iris E IE; Kraaij, Robert R; Lathrop, Marc M; Lemstra, Afina W AW; Lleó, Alberto A; Luckcuck, Lauren L; Mannens, Marcel M A M MMAM; Marshall, Rachel R; Martin, Eden R ER; Masullo, Carlo C; Mayeux, Richard R; Mecocci, Patrizia P; Meggy, Alun A; Mol, Merel O MO; Morgan, Kevin K; Myers, Richard M RM; Nacmias, Benedetta B; Naj, Adam C AC; Napolioni, Valerio V; Pasquier, Florence F; Pastor, Pau P; Pericak-Vance, Margaret A MA; Raybould, Rachel R; Redon, Richard R; Reinders, Marcel J T MJT; Richard, Anne-Claire AC; Riedel-Heller, Steffi G SG; Rivadeneira, Fernando F; Rousseau, Stéphane S; Ryan, Natalie S NS; Saad, Salha S; Sanchez-Juan, Pascual P; Schellenberg, Gerard D GD; Scheltens, Philip P; Schott, Jonathan M JM; Seripa, Davide D; Seshadri, Sudha S; Sie, Daoud D; Sistermans, Erik A EA; Sorbi, Sandro S; van Spaendonk, Resie R; Spalletta, Gianfranco G; Tesi, Niccolo' N; Tijms, Betty B; Uitterlinden, André G AG; van der Lee, Sven J SJ; Visser, Pieter Jelle PJ; Wagner, Michael M; Wallon, David D; Wang, Li-San LS; Zarea, Aline A; Clarimon, Jordi J; van Swieten, John C JC; Greicius, Michael D MD; Yokoyama, Jennifer S JS; Cruchaga, Carlos C; Hardy, John J; Ramirez, Alfredo A; Mead, Simon S; van der Flier, Wiesje M WM; van Duijn, Cornelia M CM; Williams, Julie J; Nicolas, Gaël G; Bellenguez, Céline C; Lambert, Jean-Charles JC
Publication Date: 2022-12

Variant appearance in text: rs1800978
PubMed Link: 36411364
Variant Present in the following documents:
  • 41588_2022_1208_MOESM1_ESM.pdf
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Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.

Frontiers In Nutrition
Meroni, Marica M; Longo, Miriam M; Paolini, Erika E; Tria, Giada G; Ripolone, Michela M; Napoli, Laura L; Moggio, Maurizio M; Fracanzani, Anna Ludovica AL; Dongiovanni, Paola P
Publication Date: 2022

Variant appearance in text: rs1800978
PubMed Link: 36185699
Variant Present in the following documents:
  • Main text
  • fnut-09-967899.pdf
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Role of ABCA1 in Cardiovascular Disease.

Journal Of Personalized Medicine
Wang, Jing J; Xiao, Qianqian Q; Wang, Luyun L; Wang, Yan Y; Wang, Daowen D; Ding, Hu H
Publication Date: 2022-06-20

Variant appearance in text: rs1800978
PubMed Link: 35743794
Variant Present in the following documents:
  • Main text
  • jpm-12-01010.pdf
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Mendelian Randomization Study of Causal Relationship between Omega-3 Fatty Acids and Risk of Lung Cancer.

Biomed Research International
Liu, Xin X; Peng, Yanzhi Y; Tao, Ru R; Meng, Ling L; Li, Xuehua X
Publication Date: 2022

Variant appearance in text: rs1800978
PubMed Link: 35686230
Variant Present in the following documents:
  • BMRI2022-2786567.pdf
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Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.

Nature Communications
Cadby, Gemma G; Giles, Corey C; Melton, Phillip E PE; Huynh, Kevin K; Mellett, Natalie A NA; Duong, Thy T; Nguyen, Anh A; Cinel, Michelle M; Smith, Alex A; Olshansky, Gavriel G; Wang, Tingting T; Brozynska, Marta M; Inouye, Mike M; McCarthy, Nina S NS; Ariff, Amir A; Hung, Joseph J; Hui, Jennie J; Beilby, John J; Dubé, Marie-Pierre MP; Watts, Gerald F GF; Shah, Sonia S; Wray, Naomi R NR; Lim, Wei Ling Florence WLF; Chatterjee, Pratishtha P; Martins, Ian I; Laws, Simon M SM; Porter, Tenielle T; Vacher, Michael M; Bush, Ashley I AI; Rowe, Christopher C CC; Villemagne, Victor L VL; Ames, David D; Masters, Colin L CL; Taddei, Kevin K; Arnold, Matthias M; Kastenmüller, Gabi G; Nho, Kwangsik K; Saykin, Andrew J AJ; Han, Xianlin X; Kaddurah-Daouk, Rima R; Martins, Ralph N RN; Blangero, John J; Meikle, Peter J PJ; Moses, Eric K EK
Publication Date: 2022-06-06

Variant appearance in text: rs1800978
PubMed Link: 35668104
Variant Present in the following documents:
  • Main text
View BVdb publication page



New insights into the genetic etiology of Alzheimer's disease and related dementias.

Nature Genetics
Bellenguez, Céline C; Küçükali, Fahri F; Jansen, Iris E IE; Kleineidam, Luca L; Moreno-Grau, Sonia S; Amin, Najaf N; Naj, Adam C AC; Campos-Martin, Rafael R; Grenier-Boley, Benjamin B; Andrade, Victor V; Holmans, Peter A PA; Boland, Anne A; Damotte, Vincent V; van der Lee, Sven J SJ; Costa, Marcos R MR; Kuulasmaa, Teemu T; Yang, Qiong Q; de Rojas, Itziar I; Bis, Joshua C JC; Yaqub, Amber A; Prokic, Ivana I; Chapuis, Julien J; Ahmad, Shahzad S; Giedraitis, Vilmantas V; Aarsland, Dag D; Garcia-Gonzalez, Pablo P; Abdelnour, Carla C; Alarcón-Martín, Emilio E; Alcolea, Daniel D; Alegret, Montserrat M; Alvarez, Ignacio I; Álvarez, Victoria V; Armstrong, Nicola J NJ; Tsolaki, Anthoula A; Antúnez, Carmen C; Appollonio, Ildebrando I; Arcaro, Marina M; Archetti, Silvana S; Pastor, Alfonso Arias AA; Arosio, Beatrice B; Athanasiu, Lavinia L; Bailly, Henri H; Banaj, Nerisa N; Baquero, Miquel M; Barral, Sandra S; Beiser, Alexa A; Pastor, Ana Belén AB; Below, Jennifer E JE; Benchek, Penelope P; Benussi, Luisa L; Berr, Claudine C; Besse, Céline C; Bessi, Valentina V; Binetti, Giuliano G; Bizarro, Alessandra A; Blesa, Rafael R; Boada, Mercè M; Boerwinkle, Eric E; Borroni, Barbara B; Boschi, Silvia S; Bossù, Paola P; Bråthen, Geir G; Bressler, Jan J; Bresner, Catherine C; Brodaty, Henry H; Brookes, Keeley J KJ; Brusco, Luis Ignacio LI; Buiza-Rueda, Dolores D; Bûrger, Katharina K; Burholt, Vanessa V; Bush, William S WS; Calero, Miguel M; Cantwell, Laura B LB; Chene, Geneviève G; Chung, Jaeyoon J; Cuccaro, Michael L ML; Carracedo, Ángel Á; Cecchetti, Roberta R; Cervera-Carles, Laura L; Charbonnier, Camille C; Chen, Hung-Hsin HH; Chillotti, Caterina C; Ciccone, Simona S; Claassen, Jurgen A H R JAHR; Clark, Christopher C; Conti, Elisa E; Corma-Gómez, Anaïs A; Costantini, Emanuele E; Custodero, Carlo C; Daian, Delphine D; Dalmasso, Maria Carolina MC; Daniele, Antonio A; Dardiotis, Efthimios E; Dartigues, Jean-François JF; de Deyn, Peter Paul PP; de Paiva Lopes, Katia K; de Witte, Lot D LD; Debette, Stéphanie S; Deckert, Jürgen J; Del Ser, Teodoro T; Denning, Nicola N; DeStefano, Anita A; Dichgans, Martin M; Diehl-Schmid, Janine J; Diez-Fairen, Mónica M; Rossi, Paolo Dionigi PD; Djurovic, Srdjan S; Duron, Emmanuelle E; Düzel, Emrah E; Dufouil, Carole C; Eiriksdottir, Gudny G; Engelborghs, Sebastiaan S; Escott-Price, Valentina V; Espinosa, Ana A; Ewers, Michael M; Faber, Kelley M KM; Fabrizio, Tagliavini T; Nielsen, Sune Fallgaard SF; Fardo, David W DW; Farotti, Lucia L; Fenoglio, Chiara C; Fernández-Fuertes, Marta M; Ferrari, Raffaele R; Ferreira, Catarina B CB; Ferri, Evelyn E; Fin, Bertrand B; Fischer, Peter P; Fladby, Tormod T; Fließbach, Klaus K; Fongang, Bernard B; Fornage, Myriam M; Fortea, Juan J; Foroud, Tatiana M TM; Fostinelli, Silvia S; Fox, Nick C NC; Franco-Macías, Emlio E; Bullido, María J MJ; Frank-García, Ana A; Froelich, Lutz L; Fulton-Howard, Brian B; Galimberti, Daniela D; García-Alberca, Jose Maria JM; García-González, Pablo P; Garcia-Madrona, Sebastian S; Garcia-Ribas, Guillermo G; Ghidoni, Roberta R; Giegling, Ina I; Giorgio, Giaccone G; Goate, Alison M AM; Goldhardt, Oliver O; Gomez-Fonseca, Duber D; González-Pérez, Antonio A; Graff, Caroline C; Grande, Giulia G; Green, Emma E; Grimmer, Timo T; Grünblatt, Edna E; Grunin, Michelle M; Gudnason, Vilmundur V; Guetta-Baranes, Tamar T; Haapasalo, Annakaisa A; Hadjigeorgiou, Georgios G; Haines, Jonathan L JL; Hamilton-Nelson, Kara L KL; Hampel, Harald H; Hanon, Olivier O; Hardy, John J; Hartmann, Annette M AM; Hausner, Lucrezia L; Harwood, Janet J; Heilmann-Heimbach, Stefanie S; Helisalmi, Seppo S; Heneka, Michael T MT; Hernández, Isabel I; Herrmann, Martin J MJ; Hoffmann, Per P; Holmes, Clive C; Holstege, Henne H; Vilas, Raquel Huerto RH; Hulsman, Marc M; Humphrey, Jack J; Biessels, Geert Jan GJ; Jian, Xueqiu X; Johansson, Charlotte C; Jun, Gyungah R GR; Kastumata, Yuriko Y; Kauwe, John J; Kehoe, Patrick G PG; Kilander, Lena L; Ståhlbom, Anne Kinhult AK; Kivipelto, Miia M; Koivisto, Anne A; Kornhuber, Johannes J; Kosmidis, Mary H MH; Kukull, Walter A WA; Kuksa, Pavel P PP; Kunkle, Brian W BW; Kuzma, Amanda B AB; Lage, Carmen C; Laukka, Erika J EJ; Launer, Lenore L; Lauria, Alessandra A; Lee, Chien-Yueh CY; Lehtisalo, Jenni J; Lerch, Ondrej O; Lleó, Alberto A; Longstreth, William W; Lopez, Oscar O; de Munain, Adolfo Lopez AL; Love, Seth S; Löwemark, Malin M; Luckcuck, Lauren L; Lunetta, Kathryn L KL; Ma, Yiyi Y; Macías, Juan J; MacLeod, Catherine A CA; Maier, Wolfgang W; Mangialasche, Francesca F; Spallazzi, Marco M; Marquié, Marta M; Marshall, Rachel R; Martin, Eden R ER; Montes, Angel Martín AM; Rodríguez, Carmen Martínez CM; Masullo, Carlo C; Mayeux, Richard R; Mead, Simon S; Mecocci, Patrizia P; Medina, Miguel M; Meggy, Alun A; Mehrabian, Shima S; Mendoza, Silvia S; Menéndez-González, Manuel M; Mir, Pablo P; Moebus, Susanne S; Mol, Merel M; Molina-Porcel, Laura L; Montrreal, Laura L; Morelli, Laura L; Moreno, Fermin F; Morgan, Kevin K; Mosley, Thomas T; Nöthen, Markus M MM; Muchnik, Carolina C; Mukherjee, Shubhabrata S; Nacmias, Benedetta B; Ngandu, Tiia T; Nicolas, Gael G; Nordestgaard, Børge G BG; Olaso, Robert R; Orellana, Adelina A; Orsini, Michela M; Ortega, Gemma G; Padovani, Alessandro A; Paolo, Caffarra C; Papenberg, Goran G; Parnetti, Lucilla L; Pasquier, Florence F; Pastor, Pau P; Peloso, Gina G; Pérez-Cordón, Alba A; Pérez-Tur, Jordi J; Pericard, Pierre P; Peters, Oliver O; Pijnenburg, Yolande A L YAL; Pineda, Juan A JA; Piñol-Ripoll, Gerard G; Pisanu, Claudia C; Polak, Thomas T; Popp, Julius J; Posthuma, Danielle D; Priller, Josef J; Puerta, Raquel R; Quenez, Olivier O; Quintela, Inés I; Thomassen, Jesper Qvist JQ; Rábano, Alberto A; Rainero, Innocenzo I; Rajabli, Farid F; Ramakers, Inez I; Real, Luis M LM; Reinders, Marcel J T MJT; Reitz, Christiane C; Reyes-Dumeyer, Dolly D; Ridge, Perry P; Riedel-Heller, Steffi S; Riederer, Peter P; Roberto, Natalia N; Rodriguez-Rodriguez, Eloy E; Rongve, Arvid A; Allende, Irene Rosas IR; Rosende-Roca, Maitée M; Royo, Jose Luis JL; Rubino, Elisa E; Rujescu, Dan D; Sáez, María Eugenia ME; Sakka, Paraskevi P; Saltvedt, Ingvild I; Sanabria, Ángela Á; Sánchez-Arjona, María Bernal MB; Sanchez-Garcia, Florentino F; Juan, Pascual Sánchez PS; Sánchez-Valle, Raquel R; Sando, Sigrid B SB; Sarnowski, Chloé C; Satizabal, Claudia L CL; Scamosci, Michela M; Scarmeas, Nikolaos N; Scarpini, Elio E; Scheltens, Philip P; Scherbaum, Norbert N; Scherer, Martin M; Schmid, Matthias M; Schneider, Anja A; Schott, Jonathan M JM; Selbæk, Geir G; Seripa, Davide D; Serrano, Manuel M; Sha, Jin J; Shadrin, Alexey A AA; Skrobot, Olivia O; Slifer, Susan S; Snijders, Gijsje J L GJL; Soininen, Hilkka H; Solfrizzi, Vincenzo V; Solomon, Alina A; Song, Yeunjoo Y; Sorbi, Sandro S; Sotolongo-Grau, Oscar O; Spalletta, Gianfranco G; Spottke, Annika A; Squassina, Alessio A; Stordal, Eystein E; Tartan, Juan Pablo JP; Tárraga, Lluís L; Tesí, Niccolo N; Thalamuthu, Anbupalam A; Thomas, Tegos T; Tosto, Giuseppe G; Traykov, Latchezar L; Tremolizzo, Lucio L; Tybjærg-Hansen, Anne A; Uitterlinden, Andre A; Ullgren, Abbe A; Ulstein, Ingun I; Valero, Sergi S; Valladares, Otto O; Broeckhoven, Christine Van CV; Vance, Jeffery J; Vardarajan, Badri N BN; van der Lugt, Aad A; Dongen, Jasper Van JV; van Rooij, Jeroen J; van Swieten, John J; Vandenberghe, Rik R; Verhey, Frans F; Vidal, Jean-Sébastien JS; Vogelgsang, Jonathan J; Vyhnalek, Martin M; Wagner, Michael M; Wallon, David D; Wang, Li-San LS; Wang, Ruiqi R; Weinhold, Leonie L; Wiltfang, Jens J; Windle, Gill G; Woods, Bob B; Yannakoulia, Mary M; Zare, Habil H; Zhao, Yi Y; Zhang, Xiaoling X; Zhu, Congcong C; Zulaica, Miren M; , ; , ; , ; , ; , ; , ; , ; , ; , ; Farrer, Lindsay A LA; Psaty, Bruce M BM; Ghanbari, Mohsen M; Raj, Towfique T; Sachdev, Perminder P; Mather, Karen K; Jessen, Frank F; Ikram, M Arfan MA; de Mendonça, Alexandre A; Hort, Jakub J; Tsolaki, Magda M; Pericak-Vance, Margaret A MA; Amouyel, Philippe P; Williams, Julie J; Frikke-Schmidt, Ruth R; Clarimon, Jordi J; Deleuze, Jean-François JF; Rossi, Giacomina G; Seshadri, Sudha S; Andreassen, Ole A OA; Ingelsson, Martin M; Hiltunen, Mikko M; Sleegers, Kristel K; Schellenberg, Gerard D GD; van Duijn, Cornelia M CM; Sims, Rebecca R; van der Flier, Wiesje M WM; Ruiz, Agustín A; Ramirez, Alfredo A; Lambert, Jean-Charles JC
Publication Date: 2022-04

Variant appearance in text: rs1800978
PubMed Link: 35379992
Variant Present in the following documents:
  • Main text
  • 41588_2022_Article_1024.pdf
View BVdb publication page



Strategies to gain novel Alzheimer's disease diagnostics and therapeutics using modulators of ABCA transporters.

Free Neuropathology
Pahnke, Jens J; Bascuñana, Pablo P; Brackhan, Mirjam M; Stefan, Katja K; Namasivayam, Vigneshwaran V; Koldamova, Radosveta R; Wu, Jingyun J; Möhle, Luisa L; Stefan, Sven Marcel SM
Publication Date: 2021

Variant appearance in text: rs1800978
PubMed Link: 34977908
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Common R219K Variant of ATP-Binding Cassette Transporter A1 Gene Alters Atherometabolic Traits in Pregnant Women With Gestational Diabetes Mellitus.

Frontiers In Endocrinology
Tang, Fangmei F; Guan, Linbo L; Liu, Xinghui X; Fan, Ping P; Zhou, Mi M; Wu, Yujie Y; Liu, Rui R; Liu, Yu Y; Liu, Sixu S; Li, Dehua D; Bai, Huai H
Publication Date: 2021

Variant appearance in text: rs1800978
PubMed Link: 34975757
Variant Present in the following documents:
  • Main text
  • fendo-12-782453.pdf
View BVdb publication page



Genomics and Functional Genomics of Alzheimer's Disease.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Kamboh, M Ilyas MI
Publication Date: 2022-01

Variant appearance in text: rs1800978
PubMed Link: 34935119
Variant Present in the following documents:
  • Main text
  • 13311_2021_Article_1152.pdf
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs1800978
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page



A comprehensive analysis of copy number variation in a Turkish dementia cohort.

Human Genomics
Dehghani, Nadia N; Guven, Gamze G; Kun-Rodrigues, Celia C; Gouveia, Catarina C; Foster, Kalina K; Hanagasi, Hasmet H; Lohmann, Ebba E; Samanci, Bedia B; Gurvit, Hakan H; Bilgic, Basar B; Bras, Jose J; Guerreiro, Rita R
Publication Date: 2021-07-28

Variant appearance in text: rs1800978
PubMed Link: 34321086
Variant Present in the following documents:
  • Main text
  • 40246_2021_Article_346.pdf
View BVdb publication page



Comparative Transcriptome Analysis of Key Genes and Pathways Activated in Response to Fat Deposition in Two Sheep Breeds With Distinct Tail Phenotype.

Frontiers In Genetics
Zhang, Wei W; Xu, Mengsi M; Wang, Juanjuan J; Wang, Shiyin S; Wang, Xinhua X; Yang, Jingquan J; Gao, Lei L; Gan, Shangquan S
Publication Date: 2021

Variant appearance in text: rs1800978
PubMed Link: 33897762
Variant Present in the following documents:
  • Main text
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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

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

Variant appearance in text: rs1800978
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.

International Journal Of Molecular Sciences
Jacobo-Albavera, Leonor L; Domínguez-Pérez, Mayra M; Medina-Leyte, Diana Jhoseline DJ; González-Garrido, Antonia A; Villarreal-Molina, Teresa T
Publication Date: 2021-02-05

Variant appearance in text: rs1800978
PubMed Link: 33562440
Variant Present in the following documents:
  • Main text
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Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.

Nature Communications
Chen, Vincent L VL; Du, Xiaomeng X; Chen, Yanhua Y; Kuppa, Annapurna A; Handelman, Samuel K SK; Vohnoutka, Rishel B RB; Peyser, Patricia A PA; Palmer, Nicholette D ND; Bielak, Lawrence F LF; Halligan, Brian B; Speliotes, Elizabeth K EK
Publication Date: 2021-02-05

Variant appearance in text: rs1800978
PubMed Link: 33547301
Variant Present in the following documents:
  • 41467_2020_20870_MOESM1_ESM.pdf
View BVdb publication page



Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: rs1800978
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx, sheet 21
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Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Publication Date: 2020-12-18

Variant appearance in text: rs1800978
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



5' Untranslated Region Elements Show High Abundance and Great Variability in Homologous ABCA Subfamily Genes.

International Journal Of Molecular Sciences
Dvorak, Pavel P; Hlavac, Viktor V; Soucek, Pavel P
Publication Date: 2020-11-23

Variant appearance in text: rs1800978
PubMed Link: 33238634
Variant Present in the following documents:
  • Main text
  • ijms-21-08878.pdf
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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: rs1800978
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs1800978
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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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: rs1800978
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
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ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

Journal Of Personalized Medicine
López-Fernández, Luis A LA
Publication Date: 2018-12-05

Variant appearance in text: rs1800978
PubMed Link: 30563187
Variant Present in the following documents:
  • jpm-08-00040-s001.xlsx, sheet 1
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

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

Variant appearance in text: rs1800978
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs1800978
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs1800978
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
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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: rs1800978
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



BAYESIAN METHODS FOR GENETIC ASSOCIATION ANALYSIS WITH HETEROGENEOUS SUBGROUPS: FROM META-ANALYSES TO GENE-ENVIRONMENT INTERACTIONS.

The Annals Of Applied Statistics
Wen, Xiaoquan X; Stephens, Matthew M
Publication Date: 2014

Variant appearance in text: rs1800978
PubMed Link: 26413181
Variant Present in the following documents:
  • Main text
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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs1800978
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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Biological, clinical and population relevance of 95 loci for blood lipids.

Nature
Teslovich, Tanya M TM; Musunuru, Kiran K; Smith, Albert V AV; Edmondson, Andrew C AC; Stylianou, Ioannis M IM; Koseki, Masahiro M; Pirruccello, James P JP; Ripatti, Samuli S; Chasman, Daniel I DI; Willer, Cristen J CJ; Johansen, Christopher T CT; Fouchier, Sigrid W SW; Isaacs, Aaron A; Peloso, Gina M GM; Barbalic, Maja M; Ricketts, Sally L SL; Bis, Joshua C JC; Aulchenko, Yurii S YS; Thorleifsson, Gudmar G; Feitosa, Mary F MF; Chambers, John J; Orho-Melander, Marju M; Melander, Olle O; Johnson, Toby T; Li, Xiaohui X; Guo, Xiuqing X; Li, Mingyao M; Shin Cho, Yoon Y; Jin Go, Min M; Jin Kim, Young Y; Lee, Jong-Young JY; Park, Taesung T; Kim, Kyunga K; Sim, Xueling X; Twee-Hee Ong, Rick R; Croteau-Chonka, Damien C DC; Lange, Leslie A LA; Smith, Joshua D JD; Song, Kijoung K; Hua Zhao, Jing J; Yuan, Xin X; Luan, Jian'an J; Lamina, Claudia C; Ziegler, Andreas A; Zhang, Weihua W; Zee, Robert Y L RY; Wright, Alan F AF; Witteman, Jacqueline C M JC; Wilson, James F JF; Willemsen, Gonneke G; Wichmann, H-Erich HE; Whitfield, John B JB; Waterworth, Dawn M DM; Wareham, Nicholas J NJ; Waeber, Gérard G; Vollenweider, Peter P; Voight, Benjamin F BF; Vitart, Veronique V; Uitterlinden, Andre G AG; Uda, Manuela M; Tuomilehto, Jaakko J; Thompson, John R JR; Tanaka, Toshiko T; Surakka, Ida I; Stringham, Heather M HM; Spector, Tim D TD; Soranzo, Nicole N; Smit, Johannes H JH; Sinisalo, Juha J; Silander, Kaisa K; Sijbrands, Eric J G EJ; Scuteri, Angelo A; Scott, James J; Schlessinger, David D; Sanna, Serena S; Salomaa, Veikko V; Saharinen, Juha J; Sabatti, Chiara C; Ruokonen, Aimo A; Rudan, Igor I; Rose, Lynda M LM; Roberts, Robert R; Rieder, Mark M; Psaty, Bruce M BM; Pramstaller, Peter P PP; Pichler, Irene I; Perola, Markus M; Penninx, Brenda W J H BW; Pedersen, Nancy L NL; Pattaro, Cristian C; Parker, Alex N AN; Pare, Guillaume G; Oostra, Ben A BA; O'Donnell, Christopher J CJ; Nieminen, Markku S MS; Nickerson, Deborah A DA; Montgomery, Grant W GW; Meitinger, Thomas T; McPherson, Ruth R; McCarthy, Mark I MI; McArdle, Wendy W; Masson, David D; Martin, Nicholas G NG; Marroni, Fabio F; Mangino, Massimo M; Magnusson, Patrik K E PK; Lucas, Gavin G; Luben, Robert R; Loos, Ruth J F RJ; Lokki, Marja-Liisa ML; Lettre, Guillaume G; Langenberg, Claudia C; Launer, Lenore J LJ; Lakatta, Edward G EG; Laaksonen, Reijo R; Kyvik, Kirsten O KO; Kronenberg, Florian F; König, Inke R IR; Khaw, Kay-Tee KT; Kaprio, Jaakko J; Kaplan, Lee M LM; Johansson, Asa A; Jarvelin, Marjo-Riitta MR; Janssens, A Cecile J W AC; Ingelsson, Erik E; Igl, Wilmar W; Kees Hovingh, G G; Hottenga, Jouke-Jan JJ; Hofman, Albert A; Hicks, Andrew A AA; Hengstenberg, Christian C; Heid, Iris M IM; Hayward, Caroline C; Havulinna, Aki S AS; Hastie, Nicholas D ND; Harris, Tamara B TB; Haritunians, Talin T; Hall, Alistair S AS; Gyllensten, Ulf U; Guiducci, Candace C; Groop, Leif C LC; Gonzalez, Elena E; Gieger, Christian C; Freimer, Nelson B NB; Ferrucci, Luigi L; Erdmann, Jeanette J; Elliott, Paul P; Ejebe, Kenechi G KG; Döring, Angela A; Dominiczak, Anna F AF; Demissie, Serkalem S; Deloukas, Panagiotis P; de Geus, Eco J C EJ; de Faire, Ulf U; Crawford, Gabriel G; Collins, Francis S FS; Chen, Yii-der I YD; Caulfield, Mark J MJ; Campbell, Harry H; Burtt, Noel P NP; Bonnycastle, Lori L LL; Boomsma, Dorret I DI; Boekholdt, S Matthijs SM; Bergman, Richard N RN; Barroso, Inês I; Bandinelli, Stefania S; Ballantyne, Christie M CM; Assimes, Themistocles L TL; Quertermous, Thomas T; Altshuler, David D; Seielstad, Mark M; Wong, Tien Y TY; Tai, E-Shyong ES; Feranil, Alan B AB; Kuzawa, Christopher W CW; Adair, Linda S LS; Taylor, Herman A HA; Borecki, Ingrid B IB; Gabriel, Stacey B SB; Wilson, James G JG; Holm, Hilma H; Thorsteinsdottir, Unnur U; Gudnason, Vilmundur V; Krauss, Ronald M RM; Mohlke, Karen L KL; Ordovas, Jose M JM; Munroe, Patricia B PB; Kooner, Jaspal S JS; Tall, Alan R AR; Hegele, Robert A RA; Kastelein, John J P JJ; Schadt, Eric E EE; Rotter, Jerome I JI; Boerwinkle, Eric E; Strachan, David P DP; Mooser, Vincent V; Stefansson, Kari K; Reilly, Muredach P MP; Samani, Nilesh J NJ; Schunkert, Heribert H; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Ridker, Paul M PM; Rader, Daniel J DJ; van Duijn, Cornelia M CM; Peltonen, Leena L; Abecasis, Gonçalo R GR; Boehnke, Michael M; Kathiresan, Sekar S
Publication Date: 2010-08-05

Variant appearance in text: rs1800978
PubMed Link: 20686565
Variant Present in the following documents:
  • NIHMS213289-supplement-1.pdf
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Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
Boes, Eva E; Coassin, Stefan S; Kollerits, Barbara B; Heid, Iris M IM; Kronenberg, Florian F
Publication Date: 2009-03

Variant appearance in text: rs1800978
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page