SMARCA4 c.2001+279A>G

Variant ID: 19-11114352-A-G

NM_003072.3(SMARCA4):c.2001+279A>G

This variant was identified in 10 publications

View GRCh38 version.




Publications:


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

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

Variant appearance in text: rs12983316
PubMed Link: 35255492
Variant Present in the following documents:
  • 41586_2022_4576_MOESM1_ESM.pdf
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Association Between Genetically Proxied Lipid-Lowering Drug Targets and Renal Cell Carcinoma: A Mendelian Randomization Study.

Frontiers In Nutrition
Liu, Luyang L; Sheng, Chao C; Lyu, Zhangyan Z; Dai, Hongji H; Chen, Kexin K
Publication Date: 2021

Variant appearance in text: rs12983316
PubMed Link: 34712689
Variant Present in the following documents:
  • Main text
  • fnut-08-755834.pdf
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Large-scale genome-wide enrichment analyses identify new trait-associated genes and pathways across 31 human phenotypes.

Nature Communications
Zhu, Xiang X; Stephens, Matthew M
Publication Date: 2018-10-19

Variant appearance in text: rs12983316
PubMed Link: 30341297
Variant Present in the following documents:
  • 41467_2018_6805_MOESM1_ESM.pdf
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: rs12983316
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
View BVdb publication page



The projack: a resampling approach to correct for ranking bias in high-throughput studies.

Biostatistics (Oxford, England)
Zhou, Yi-Hui YH; Wright, Fred A FA
Publication Date: 2016-01

Variant appearance in text: rs12983316
PubMed Link: 26040912
Variant Present in the following documents:
  • Main text
  • kxv022.pdf
View BVdb publication page



Confirmation of TNIP1 and IL23A as susceptibility loci for psoriatic arthritis.

Annals Of The Rheumatic Diseases
Bowes, John J; Orozco, Gisela G; Flynn, Edward E; Ho, Pauline P; Brier, Rasha R; Marzo-Ortega, Helena H; Coates, Laura L; McManus, Ross R; Ryan, Anthony W AW; Kane, David D; Korendowych, Eleanor E; McHugh, Neil N; FitzGerald, Oliver O; Packham, Jonathan J; Morgan, Ann W AW; Bruce, Ian N IN; Barton, Anne A
Publication Date: 2011-09

Variant appearance in text: rs12983316
PubMed Link: 21623003
Variant Present in the following documents:
  • Main text
  • ard-70-9-1641.pdf
View BVdb publication page



BR-squared: a practical solution to the winner's curse in genome-wide scans.

Human Genetics
Sun, Lei L; Dimitromanolakis, Apostolos A; Faye, Laura L LL; Paterson, Andrew D AD; Waggott, Daryl D; , ; Bull, Shelley B SB
Publication Date: 2011-05

Variant appearance in text: rs12983316
PubMed Link: 21246217
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analyses identify six new psoriasis susceptibility loci in the Chinese population.

Nature Genetics
Sun, Liang-Dan LD; Cheng, Hui H; Wang, Zai-Xing ZX; Zhang, An-Ping AP; Wang, Pei-Guang PG; Xu, Jin-Hua JH; Zhu, Qi-Xing QX; Zhou, Hai-Sheng HS; Ellinghaus, Eva E; Zhang, Fu-Ren FR; Pu, Xiong-Ming XM; Yang, Xue-Qin XQ; Zhang, Jian-Zhong JZ; Xu, Ai-E AE; Wu, Ri-Na RN; Xu, Li-Min LM; Peng, Lin L; Helms, Cynthia A CA; Ren, Yun-Qing YQ; Zhang, Chi C; Zhang, Shu-Mei SM; Nair, Rajan P RP; Wang, Hong-Yan HY; Lin, Guo-Shu GS; Stuart, Philip E PE; Fan, Xing X; Chen, Gang G; Tejasvi, Trilokraj T; Li, Pan P; Zhu, Jun J; Li, Zhi-Ming ZM; Ge, Hong-Mei HM; Weichenthal, Michael M; Ye, Wen-Zheng WZ; Zhang, Cheng C; Shen, Song-Ke SK; Yang, Bao-Qi BQ; Sun, Yuan-Yuan YY; Li, Shan-Shan SS; Lin, Yan Y; Jiang, Jian-Hua JH; Li, Cun-Tao CT; Chen, Ri-Xin RX; Cheng, Juan J; Jiang, Xin X; Zhang, Peng P; Song, Wei-Min WM; Tang, Jin J; Zhang, Hao-Qin HQ; Sun, Li L; Cui, Jing J; Zhang, Li-Jun LJ; Tang, Biao B; Huang, Fei F; Qin, Qian Q; Pei, Xiao-Ping XP; Zhou, Ai-Min AM; Shao, Li-Mei LM; Liu, Jian-Lan JL; Zhang, Feng-Yu FY; Du, Wei-Dong WD; Franke, Andre A; Bowcock, Anne M AM; Elder, James T JT; Liu, Jian-Jun JJ; Yang, Sen S; Zhang, Xue-Jun XJ
Publication Date: 2010-11

Variant appearance in text: rs12983316
PubMed Link: 20953187
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.

Nature Genetics
Hüffmeier, Ulrike U; Uebe, Steffen S; Ekici, Arif B AB; Bowes, John J; Giardina, Emiliano E; Korendowych, Eleanor E; Juneblad, Kristina K; Apel, Maria M; McManus, Ross R; Ho, Pauline P; Bruce, Ian N IN; Ryan, Anthony W AW; Behrens, Frank F; Lascorz, Jesús J; Böhm, Beate B; Traupe, Heiko H; Lohmann, Jörg J; Gieger, Christian C; Wichmann, Heinz-Erich HE; Herold, Christine C; Steffens, Michael M; Klareskog, Lars L; Wienker, Thomas F TF; Fitzgerald, Oliver O; Alenius, Gerd-Marie GM; McHugh, Neil J NJ; Novelli, Giuseppe G; Burkhardt, Harald H; Barton, Anne A; Reis, André A
Publication Date: 2010-11

Variant appearance in text: rs12983316
PubMed Link: 20953186
Variant Present in the following documents:
  • NIHMS32132-supplement-1.pdf
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Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.

Nature Genetics
Nair, Rajan P RP; Duffin, Kristina Callis KC; Helms, Cynthia C; Ding, Jun J; Stuart, Philip E PE; Goldgar, David D; Gudjonsson, Johann E JE; Li, Yun Y; Tejasvi, Trilokraj T; Feng, Bing-Jian BJ; Ruether, Andreas A; Schreiber, Stefan S; Weichenthal, Michael M; Gladman, Dafna D; Rahman, Proton P; Schrodi, Steven J SJ; Prahalad, Sampath S; Guthery, Stephen L SL; Fischer, Judith J; Liao, Wilson W; Kwok, Pui-Yan PY; Menter, Alan A; Lathrop, G Mark GM; Wise, Carol A CA; Begovich, Ann B AB; Voorhees, John J JJ; Elder, James T JT; Krueger, Gerald G GG; Bowcock, Anne M AM; Abecasis, Gonçalo R GR; ,
Publication Date: 2009-02

Variant appearance in text: rs12983316
PubMed Link: 19169254
Variant Present in the following documents:
  • Main text
View BVdb publication page