COL4A2 c.180+30899A>C

Variant ID: 13-111040798-A-C

NM_001846.2(COL4A2):c.180+30899A>C

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Dissecting Polygenic Etiology of Ischemic Stroke in the Era of Precision Medicine.

Journal Of Clinical Medicine
Li, Jiang J; Abedi, Vida V; Zand, Ramin R
Publication Date: 2022-10-11

Variant appearance in text: rs9515201
PubMed Link: 36294301
Variant Present in the following documents:
  • Main text
  • jcm-11-05980.pdf
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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs9515201
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
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Rare and Common Variants in COL4A1 in Chinese Patients With Intracerebral Hemorrhage.

Frontiers In Neurology
Liu, Xiaolu X; Yang, Qiong Q; Tang, Lu L; He, Ji J; Tian, Danyang D; Wang, Baojun B; Xie, Lihong L; Li, Changbao C; Fan, Dongsheng D
Publication Date: 2022

Variant appearance in text: rs9515201
PubMed Link: 35711275
Variant Present in the following documents:
  • Main text
  • fneur-13-827165.pdf
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Rare Missense Functional Variants at COL4A1 and COL4A2 in Sporadic Intracerebral Hemorrhage.

Neurology
Chung, Jaeyoon J; Hamilton, Graham G; Kim, Minsup M; Marini, Sandro S; Montgomery, Bailey B; Henry, Jonathan J; Cho, Art E AE; Brown, Devin L DL; Worrall, Bradford B BB; Meschia, James F JF; Silliman, Scott L SL; Selim, Magdy M; Tirschwell, David L DL; Kidwell, Chelsea S CS; Kissela, Brett B; Greenberg, Steven M SM; Viswanathan, Anand A; Goldstein, Joshua N JN; Langefeld, Carl D CD; Rannikmae, Kristiina K; Sudlow, Catherine Lm CL; Samarasekera, Neshika N; Rodrigues, Mark M; Al-Shahi Salman, Rustam R; Prendergast, James G D JGD; Harris, Sarah E SE; Deary, Ian I; Woo, Daniel D; Rosand, Jonathan J; Van Agtmael, Tom T; Anderson, Christopher D CD
Publication Date: 2021-05-24

Variant appearance in text: rs9515201
PubMed Link: 34031201
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2020160366.pdf
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Replication of Top Loci From COL4A1/2 Associated With White Matter Hyperintensity Burden in Patients With Ischemic Stroke.

Stroke
Li, Jiang J; Abedi, Vida V; , ; Zand, Ramin R; Griessenauer, Christoph J CJ
Publication Date: 2020-12

Variant appearance in text: rs9515201
PubMed Link: 33148145
Variant Present in the following documents:
  • Main text
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Association of common genetic variants with brain microbleeds: A genome-wide association study.

Neurology
Knol, Maria J MJ; Lu, Dongwei D; Traylor, Matthew M; Adams, Hieab H H HHH; Romero, José Rafael J JRJ; Smith, Albert V AV; Fornage, Myriam M; Hofer, Edith E; Liu, Junfeng J; Hostettler, Isabel C IC; Luciano, Michelle M; Trompet, Stella S; Giese, Anne-Katrin AK; Hilal, Saima S; van den Akker, Erik B EB; Vojinovic, Dina D; Li, Shuo S; Sigurdsson, Sigurdur S; van der Lee, Sven J SJ; Jack, Clifford R CR; Wilson, Duncan D; Yilmaz, Pinar P; Satizabal, Claudia L CL; Liewald, David C M DCM; van der Grond, Jeroen J; Chen, Christopher C; Saba, Yasaman Y; van der Lugt, Aad A; Bastin, Mark E ME; Windham, B Gwen BG; Cheng, Ching Yu CY; Pirpamer, Lukas L; Kantarci, Kejal K; Himali, Jayandra J JJ; Yang, Qiong Q; Morris, Zoe Z; Beiser, Alexa S AS; Tozer, Daniel J DJ; Vernooij, Meike W MW; Amin, Najaf N; Beekman, Marian M; Koh, Jia Yu JY; Stott, David J DJ; Houlden, Henry H; Schmidt, Reinhold R; Gottesman, Rebecca F RF; MacKinnon, Andrew D AD; DeCarli, Charles C; Gudnason, Vilmundur V; Deary, Ian J IJ; van Duijn, Cornelia M CM; Slagboom, P Eline PE; Wong, Tien Yin TY; Rost, Natalia S NS; Jukema, J Wouter JW; Mosley, Thomas H TH; Werring, David J DJ; Schmidt, Helena H; Wardlaw, Joanna M JM; Ikram, M Arfan MA; Seshadri, Sudha S; Launer, Lenore J LJ; Markus, Hugh S HS; ,
Publication Date: 2020-12-15

Variant appearance in text: rs9515201
PubMed Link: 32913026
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2019043927.pdf
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Genome-wide association study of cerebral small vessel disease reveals established and novel loci.

Brain : A Journal Of Neurology
Chung, Jaeyoon J; Marini, Sandro S; Pera, Joanna J; Norrving, Bo B; Jimenez-Conde, Jordi J; Roquer, Jaume J; Fernandez-Cadenas, Israel I; Tirschwell, David L DL; Selim, Magdy M; Brown, Devin L DL; Silliman, Scott L SL; Worrall, Bradford B BB; Meschia, James F JF; Demel, Stacie S; Greenberg, Steven M SM; Slowik, Agnieszka A; Lindgren, Arne A; Schmidt, Reinhold R; Traylor, Matthew M; Sargurupremraj, Muralidharan M; Tiedt, Steffen S; Malik, Rainer R; Debette, Stéphanie S; Dichgans, Martin M; Langefeld, Carl D CD; Woo, Daniel D; Rosand, Jonathan J; Anderson, Christopher D CD
Publication Date: 2019-10-01

Variant appearance in text: rs9515201
PubMed Link: 31430377
Variant Present in the following documents:
  • Main text
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The Associations of PMF1, ICAM1, AGT, TRIM65, FBF1, and ACOX1 Variants With Leukoaraiosis in Chinese Population.

Frontiers In Genetics
Huang, Wen-Qing WQ; Ye, Hui-Ming HM; Cai, Liang-Liang LL; Ma, Qi-Lin QL; Lu, Cong-Xia CX; Tong, Sui-Jun SJ; Tzeng, Chi-Meng CM; Lin, Qing Q
Publication Date: 2019

Variant appearance in text: rs9515201
PubMed Link: 31396257
Variant Present in the following documents:
  • Main text
  • fgene-10-00615.pdf
  • Table_1.xlsx, sheet 1
  • Table_1.xlsx, sheet 2
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Subtype Specificity of Genetic Loci Associated With Stroke in 16 664 Cases and 32 792 Controls.

Circulation. Genomic And Precision Medicine
Traylor, Matthew M; Anderson, Christopher D CD; Rutten-Jacobs, Loes C A LCA; Falcone, Guido J GJ; Comeau, Mary E ME; Ay, Hakan H; Sudlow, Cathie L M CLM; Xu, Huichun H; Mitchell, Braxton D BD; Cole, John W JW; Rexrode, Kathryn K; Jimenez-Conde, Jordi J; Schmidt, Reinhold R; Grewal, Raji P RP; Sacco, Ralph R; Ribases, Marta M; Rundek, Tatjana T; Rosand, Jonathan J; Dichgans, Martin M; Lee, Jin-Moo JM; Langefeld, Carl D CD; Kittner, Steven J SJ; Markus, Hugh S HS; Woo, Daniel D; Malik, Rainer R; ,
Publication Date: 2019-07

Variant appearance in text: rs9515201
PubMed Link: 31306060
Variant Present in the following documents:
  • Main text
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Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.

Brain : A Journal Of Neurology
Mishra, Aniket A; Chauhan, Ganesh G; Violleau, Marie-Helene MH; Vojinovic, Dina D; Jian, Xueqiu X; Bis, Joshua C JC; Li, Shuo S; Saba, Yasaman Y; Grenier-Boley, Benjamin B; Yang, Qiong Q; Bartz, Traci M TM; Hofer, Edith E; Soumaré, Aïcha A; Peng, Fen F; Duperron, Marie-Gabrielle MG; Foglio, Mario M; Mosley, Thomas H TH; Schmidt, Reinhold R; Psaty, Bruce M BM; Launer, Lenore J LJ; Boerwinkle, Eric E; Zhu, Yicheng Y; Mazoyer, Bernard B; Lathrop, Mark M; Bellenguez, Celine C; Van Duijn, Cornelia M CM; Ikram, M Arfan MA; Schmidt, Helena H; Longstreth, W T WT; Fornage, Myriam M; Seshadri, Sudha S; Joutel, Anne A; Tzourio, Christophe C; Debette, Stephanie S
Publication Date: 2019-04-01

Variant appearance in text: rs9515201
PubMed Link: 30859180
Variant Present in the following documents:
  • Main text
  • awz024.pdf
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Emerging insights from the genetics of cerebral small-vessel disease.

Annals Of The New York Academy Of Sciences
Rutten-Jacobs, Loes C A LCA; Rost, Natalia S NS
Publication Date: 2020-07

Variant appearance in text: rs9515201
PubMed Link: 30618052
Variant Present in the following documents:
  • Main text
View BVdb publication page



Monogenic, Polygenic, and MicroRNA Markers for Ischemic Stroke.

Molecular Neurobiology
Chen, Wu W; Sinha, Bharati B; Li, Yi Y; Benowitz, Larry L; Chen, Qinhua Q; Zhang, Zhenghong Z; Patel, Nirav J NJ; Aziz-Sultan, Ali M AM; Chiocca, Antonio E AE; Wang, Xin X
Publication Date: 2019-02

Variant appearance in text: rs9515201
PubMed Link: 29948938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Imaging Endophenotypes of Stroke as a Target for Genetic Studies.

Stroke
Jian, Xueqiu X; Fornage, Myriam M
Publication Date: 2018-06

Variant appearance in text: rs9515201
PubMed Link: 29760278
Variant Present in the following documents:
  • Main text
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Advancing stroke genomic research in the age of Trans-Omics big data science: Emerging priorities and opportunities.

Journal Of The Neurological Sciences
Owolabi, Mayowa M; Peprah, Emmanuel E; Xu, Huichun H; Akinyemi, Rufus R; Tiwari, Hemant K HK; Irvin, Marguerite R MR; Wahab, Kolawole Wasiu KW; Arnett, Donna K DK; Ovbiagele, Bruce B
Publication Date: 2017-11-15

Variant appearance in text: rs9515201
PubMed Link: 29111012
Variant Present in the following documents:
  • Main text
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COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls.

Neurology
Rannikmäe, Kristiina K; Sivakumaran, Vhinoth V; Millar, Henry H; Malik, Rainer R; Anderson, Christopher D CD; Chong, Mike M; Dave, Tushar T; Falcone, Guido J GJ; Fernandez-Cadenas, Israel I; Jimenez-Conde, Jordi J; Lindgren, Arne A; Montaner, Joan J; O'Donnell, Martin M; Paré, Guillaume G; Radmanesh, Farid F; Rost, Natalia S NS; Slowik, Agnieszka A; Söderholm, Martin M; Traylor, Matthew M; Pulit, Sara L SL; Seshadri, Sudha S; Worrall, Brad B BB; Woo, Daniel D; Markus, Hugh S HS; Mitchell, Braxton D BD; Dichgans, Martin M; Rosand, Jonathan J; Sudlow, Cathie L M CLM; ,
Publication Date: 2017-10-24

Variant appearance in text: rs9515201
PubMed Link: 28954878
Variant Present in the following documents:
  • Main text
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Genetic Associations With White Matter Hyperintensities Confer Risk of Lacunar Stroke.

Stroke
Traylor, Matthew M; Rutten-Jacobs, Loes C A LC; Thijs, Vincent V; Holliday, Elizabeth G EG; Levi, Chris C; Bevan, Steve S; Malik, Rainer R; Boncoraglio, Giorgio G; Sudlow, Cathie C; Rothwell, Peter M PM; Dichgans, Martin M; Markus, Hugh S HS
Publication Date: 2016-05

Variant appearance in text: rs9515201
PubMed Link: 27073246
Variant Present in the following documents:
  • Main text
  • str-47-1174.pdf
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Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.

Neurology
Traylor, Matthew M; Zhang, Cathy R CR; Adib-Samii, Poneh P; Devan, William J WJ; Parsons, Owen E OE; Lanfranconi, Silvia S; Gregory, Sarah S; Cloonan, Lisa L; Falcone, Guido J GJ; Radmanesh, Farid F; Fitzpatrick, Kaitlin K; Kanakis, Allison A; Barrick, Thomas R TR; Moynihan, Barry B; Lewis, Cathryn M CM; Boncoraglio, Giorgio B GB; Lemmens, Robin R; Thijs, Vincent V; Sudlow, Cathie C; Wardlaw, Joanna J; Rothwell, Peter M PM; Meschia, James F JF; Worrall, Bradford B BB; Levi, Christopher C; Bevan, Steve S; Furie, Karen L KL; Dichgans, Martin M; Rosand, Jonathan J; Markus, Hugh S HS; Rost, Natalia N; ,
Publication Date: 2016-01-12

Variant appearance in text: rs9515201
PubMed Link: 26674333
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2015657247.pdf
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Fine mapping on chromosome 13q32-34 and brain expression analysis implicates MYO16 in schizophrenia.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Rodriguez-Murillo, Laura L; Xu, Bin B; Roos, J Louw JL; Abecasis, Gonçalo R GR; Gogos, Joseph A JA; Karayiorgou, Maria M
Publication Date: 2014-03

Variant appearance in text: rs9515201
PubMed Link: 24141571
Variant Present in the following documents:
  • Main text
View BVdb publication page