SMARCA4 c.4425-5369C>T

Variant ID: 19-11163562-C-T

NM_003072.3(SMARCA4):c.4425-5369C>T

This variant was identified in 18 publications

View GRCh38 version.




Publications:


LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients.

Bmc Nephrology
Buraczynska, Monika M; Jacob, Jerry J; Gwiazda-Tyndel, Karolina K; Ksiazek, Andrzej A
Publication Date: 2021-09-23

Variant appearance in text: rs1529729
PubMed Link: 34556050
Variant Present in the following documents:
  • Main text
  • 12882_2021_Article_2532.pdf
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A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.

Molecular Genetics & Genomic Medicine
Leal, Luis G LG; Hoggart, Clive C; Jarvelin, Marjo-Riitta MR; Herzig, Karl-Heinz KH; Sternberg, Michael J E MJE; David, Alessia A
Publication Date: 2020-06

Variant appearance in text: rs1529729
PubMed Link: 32307928
Variant Present in the following documents:
  • Main text
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The genetic polymorphisms of ZC3HC1 and SMARCA4 are associated with hypertension risk.

Molecular Genetics & Genomic Medicine
Ma, Huijun H; He, Yongjun Y; Bai, Mei M; Zhu, Linhao L; He, Xue X; Wang, Li L; Jin, Tianbo T
Publication Date: 2019-11

Variant appearance in text: rs1529729
PubMed Link: 31507094
Variant Present in the following documents:
  • Main text
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LDLR Gene Polymorphisms (rs5925 and rs1529729) Are Associated with Susceptibility to Coronary Artery Disease in a South Indian Population.

Medical Sciences (Basel, Switzerland)
K Jha, Chandan C; Mir, Rashid R; Elfaki, Imadeldin I; Banu, Shaheena S; Chahal, S M S SMS
Publication Date: 2019-07-15

Variant appearance in text: rs1529729
PubMed Link: 31311124
Variant Present in the following documents:
  • Main text
  • medsci-07-00080.pdf
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Sex-specific association of SH2B3 and SMARCA4 polymorphisms with coronary artery disease susceptibility.

Oncotarget
Ji, Yuqiang Y; Song, Yanbin Y; Wang, Qingwen Q; Xu, Pengcheng P; Zhao, Zhao Z; Li, Xia X; Wang, Nan N; Jin, Tianbo T; Chen, Chao C
Publication Date: 2017-08-29

Variant appearance in text: rs1529729
PubMed Link: 28938645
Variant Present in the following documents:
  • Main text
  • oncotarget-08-59397.pdf
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Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V
Publication Date: 2017-06-02

Variant appearance in text: rs1529729
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
  • 12944_2017_Article_488.pdf
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Variants in the SMARCA4 gene was associated with coronary heart disease susceptibility in Chinese han population.

Oncotarget
Guo, Xuan X; Wang, Xiaohong X; Wang, Yuan Y; Zhang, Chunyan C; Quan, Xiaohui X; Zhang, Yan Y; Jia, Shan S; Ma, Weidong W; Fan, Yajie Y; Wang, Congxia C
Publication Date: 2017-01-31

Variant appearance in text: rs1529729
PubMed Link: 28055962
Variant Present in the following documents:
  • Main text
  • oncotarget-08-7350.pdf
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Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study.

Plos Genetics
Hall, Molly A MA; Verma, Anurag A; Brown-Gentry, Kristin D KD; Goodloe, Robert R; Boston, Jonathan J; Wilson, Sarah S; McClellan, Bob B; Sutcliffe, Cara C; Dilks, Holly H HH; Gillani, Nila B NB; Jin, Hailing H; Mayo, Ping P; Allen, Melissa M; Schnetz-Boutaud, Nathalie N; Crawford, Dana C DC; Ritchie, Marylyn D MD; Pendergrass, Sarah A SA
Publication Date: 2014-12

Variant appearance in text: rs1529729
PubMed Link: 25474351
Variant Present in the following documents:
  • Main text
  • pgen.1004678.pdf
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Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients.

Plos One
Shao, Jiaofang J; Lou, Xiaoyan X; Wang, Jun J; Zhang, Jing J; Chen, Chen C; Hua, Dasong D; Mo, Fan F; Han, Xu X; Zheng, Shu S; Lin, Biaoyang B
Publication Date: 2013

Variant appearance in text: rs1529729
PubMed Link: 23940558
Variant Present in the following documents:
  • pone.0070307.s002.xlsx, sheet 1
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Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

Journal Of Perinatology : Official Journal Of The California Perinatal Association
Mann, P C PC; Cooper, M E ME; Ryckman, K K KK; Comas, B B; Gili, J J; Crumley, S S; Bream, E N A EN; Byers, H M HM; Piester, T T; Schaefer, A A; Christine, P J PJ; Lawrence, A A; Schaa, K L KL; Kelsey, K J P KJ; Berends, S K SK; Momany, A M AM; Gadow, E E; Cosentino, V V; Castilla, E E EE; López Camelo, J J; Saleme, C C; Day, L J LJ; England, S K SK; Marazita, M L ML; Dagle, J M JM; Murray, J C JC
Publication Date: 2013-05

Variant appearance in text: rs1529729
PubMed Link: 23018797
Variant Present in the following documents:
  • Main text
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Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population.

Journal Of Lipid Research
Liu, Yun Y; Zhou, Daizhan D; Zhang, Zhou Z; Song, Yiqing Y; Zhang, Di D; Zhao, Teng T; Chen, Zhuo Z; Sun, Yun Y; Zhang, Dabing D; Yang, Yifeng Y; Xing, Qinghe Q; Zhao, Xinzhi X; Xu, He H; He, Lin L
Publication Date: 2011-02

Variant appearance in text: rs1529729
PubMed Link: 21149302
Variant Present in the following documents:
  • Main text
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Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.

Circulation. Cardiovascular Genetics
Keebler, Mary E ME; Sanders, Christopher L CL; Surti, Aarti A; Guiducci, Candace C; Burtt, Noel P NP; Kathiresan, Sekar S
Publication Date: 2009-06

Variant appearance in text: rs1529729
PubMed Link: 20031591
Variant Present in the following documents:
  • Main text
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Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

Lipids In Health And Disease
Ronald, James J; Rajagopalan, Ramakrishnan R; Ranchalis, Jane E JE; Marshall, Julieann K JK; Hatsukami, Thomas S TS; Heagerty, Patrick J PJ; Jarvik, Gail P GP
Publication Date: 2009-12-01

Variant appearance in text: rs1529729
PubMed Link: 19951432
Variant Present in the following documents:
  • Main text
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Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

American Journal Of Human Genetics
Talmud, Philippa J PJ; Drenos, Fotios F; Shah, Sonia S; Shah, Tina T; Palmen, Jutta J; Verzilli, Claudio C; Gaunt, Tom R TR; Pallas, Jacky J; Lovering, Ruth R; Li, Kawah K; Casas, Juan Pablo JP; Sofat, Reecha R; Kumari, Meena M; Rodriguez, Santiago S; Johnson, Toby T; Newhouse, Stephen J SJ; Dominiczak, Anna A; Samani, Nilesh J NJ; Caulfield, Mark M; Sever, Peter P; Stanton, Alice A; Shields, Denis C DC; Padmanabhan, Sandosh S; Melander, Olle O; Hastie, Claire C; Delles, Christian C; Ebrahim, Shah S; Marmot, Michael G MG; Smith, George Davey GD; Lawlor, Debbie A DA; Munroe, Patricia B PB; Day, Ian N IN; Kivimaki, Mika M; Whittaker, John J; Humphries, Steve E SE; Hingorani, Aroon D AD; , ; , ; ,
Publication Date: 2009-11

Variant appearance in text: rs1529729
PubMed Link: 19913121
Variant Present in the following documents:
  • Main text
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A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women.

Journal Of Lipid Research
Hamrefors, Viktor V; Orho-Melander, Marju M; Krauss, Ronald M RM; Hedblad, Bo B; Almgren, Peter P; Berglund, Göran G; Melander, Olle O
Publication Date: 2010-03

Variant appearance in text: rs1529729
PubMed Link: 19773416
Variant Present in the following documents:
  • Main text
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Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers.

Plos Genetics
Jakobsdottir, Johanna J; Gorin, Michael B MB; Conley, Yvette P YP; Ferrell, Robert E RE; Weeks, Daniel E DE
Publication Date: 2009-02

Variant appearance in text: rs1529729
PubMed Link: 19197355
Variant Present in the following documents:
  • pgen.1000337.s001.pdf
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Multivariate genomewide linkage scan of neurocognitive traits and ADHD symptoms: suggestive linkage to 3q13.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Doyle, Alysa E AE; Ferreira, Manuel A R MA; Sklar, Pamela B PB; Lasky-Su, Jessica J; Petty, Carter C; Fusillo, Steven J SJ; Seidman, Larry J LJ; Willcutt, Erik G EG; Smoller, Jordan W JW; Purcell, Shaun S; Biederman, Joseph J; Faraone, Stephen V SV
Publication Date: 2008-12-05

Variant appearance in text: rs1529729
PubMed Link: 18973233
Variant Present in the following documents:
  • Main text
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Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.

Plos One
Linsel-Nitschke, Patrick P; Götz, Anika A; Erdmann, Jeanette J; Braenne, Ingrid I; Braund, Peter P; Hengstenberg, Christian C; Stark, Klaus K; Fischer, Marcus M; Schreiber, Stefan S; El Mokhtari, Nour Eddine NE; Schaefer, Arne A; Schrezenmeir, Jürgen J; Schrezenmeier, Jürgen J; Rubin, Diana D; Hinney, Anke A; Reinehr, Thomas T; Roth, Christian C; Ortlepp, Jan J; Hanrath, Peter P; Hall, Alistair S AS; Mangino, Massimo M; Lieb, Wolfgang W; Lamina, Claudia C; Heid, Iris M IM; Doering, Angela A; Gieger, Christian C; Peters, Annette A; Meitinger, Thomas T; Wichmann, H-Erich HE; König, Inke R IR; Ziegler, Andreas A; Kronenberg, Florian F; Samani, Nilesh J NJ; Schunkert, Heribert H; , ; ,
Publication Date: 2008-08-20

Variant appearance in text: rs1529729
PubMed Link: 18714375
Variant Present in the following documents:
  • Main text
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