ADAMTS13 c.3910-342A>G

Variant ID: 9-136323754-A-G

NM_139027.4(ADAMTS13):c.3910-342A>G

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Missense Variants of von Willebrand Factor in the Background of COVID-19 Associated Coagulopathy.

Genes
Elek, Zsuzsanna Z; Losoncz, Eszter E; Maricza, Katalin K; Fülep, Zoltán Z; Bánlaki, Zsófia Z; Kovács-Nagy, Réka R; Keszler, Gergely G; Rónai, Zsolt Z
Publication Date: 2023-02-28

Variant appearance in text: rs4962153
PubMed Link: 36980889
Variant Present in the following documents:
  • Main text
  • genes-14-00617.pdf
View BVdb publication page



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: rs4962153
PubMed Link: 36580335
Variant Present in the following documents:
  • jamanetwopen-e2248803-s001.pdf
View BVdb publication page



Genetic Variation in ADAMTS13 is Related to VWF Levels, Atrial Fibrillation and Cerebral Ischemic Events.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis
Warlo, Ellen M K EMK; Bratseth, Vibeke V; Pettersen, Alf-Åge R AR; Holme, Pål Andre PA; Arnesen, Harald H; Seljeflot, Ingebjørg I; Opstad, Trine B TB
Publication Date: 2022

Variant appearance in text: rs4962153
PubMed Link: 36474435
Variant Present in the following documents:
  • Main text
  • 10.1177_10760296221141893.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4962153
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Susceptible gene polymorphism in patients with three-vessel coronary artery disease.

Bmc Cardiovascular Disorders
Liu, Ru R; Song, Lei L; Jiang, Lin L; Tang, Xiaofang X; Xu, Lianjun L; Gao, Zhan Z; Zhao, Xueyan X; Xu, Jingjing J; Gao, Runlin R; Yuan, Jinqing J
Publication Date: 2020-04-15

Variant appearance in text: rs4962153
PubMed Link: 32293292
Variant Present in the following documents:
  • Main text
  • 12872_2020_Article_1449.pdf
View BVdb publication page



A Disintegrin and Metalloproteinase (ADAM) and ADAM with thrombospondin motifs (ADAMTS) family in vascular biology and disease.

Biochemical Pharmacology
Zhong, Sheng S; Khalil, Raouf A RA
Publication Date: 2019-06

Variant appearance in text: rs4962153
PubMed Link: 30905657
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of a disintegrin and metalloproteinase with a thrombospondin type 1 motif member 13 polymorphisms with severity of coronary stenosis in type 2 diabetes mellitus.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences
Lasom, Supakanya S; Komanasin, Nantarat N; Settasatian, Nongnuch N; Settasatian, Chatri C; Kukongviriyapan, Upa U; Intharapetch, Pongsak P
Publication Date: 2018

Variant appearance in text: rs4962153
PubMed Link: 30181741
Variant Present in the following documents:
  • Main text
  • JRMS-23-59.pdf
View BVdb publication page



Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke.

Stroke
Williams, Stephen R SR; Hsu, Fang-Chi FC; Keene, Keith L KL; Chen, Wei-Min WM; Dzhivhuho, Godfrey G; Rowles, Joe L JL; Southerland, Andrew M AM; Furie, Karen L KL; Rich, Stephen S SS; Worrall, Bradford B BB; Sale, Michèle M MM; ,
Publication Date: 2017-06

Variant appearance in text: rs4962153
PubMed Link: 28495826
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.

Nature Genetics
Wolpin, Brian M BM; Rizzato, Cosmeri C; Kraft, Peter P; Kooperberg, Charles C; Petersen, Gloria M GM; Wang, Zhaoming Z; Arslan, Alan A AA; Beane-Freeman, Laura L; Bracci, Paige M PM; Buring, Julie J; Canzian, Federico F; Duell, Eric J EJ; Gallinger, Steven S; Giles, Graham G GG; Goodman, Gary E GE; Goodman, Phyllis J PJ; Jacobs, Eric J EJ; Kamineni, Aruna A; Klein, Alison P AP; Kolonel, Laurence N LN; Kulke, Matthew H MH; Li, Donghui D; Malats, Núria N; Olson, Sara H SH; Risch, Harvey A HA; Sesso, Howard D HD; Visvanathan, Kala K; White, Emily E; Zheng, Wei W; Abnet, Christian C CC; Albanes, Demetrius D; Andreotti, Gabriella G; Austin, Melissa A MA; Barfield, Richard R; Basso, Daniela D; Berndt, Sonja I SI; Boutron-Ruault, Marie-Christine MC; Brotzman, Michelle M; Büchler, Markus W MW; Bueno-de-Mesquita, H Bas HB; Bugert, Peter P; Burdette, Laurie L; Campa, Daniele D; Caporaso, Neil E NE; Capurso, Gabriele G; Chung, Charles C; Cotterchio, Michelle M; Costello, Eithne E; Elena, Joanne J; Funel, Niccola N; Gaziano, J Michael JM; Giese, Nathalia A NA; Giovannucci, Edward L EL; Goggins, Michael M; Gorman, Megan J MJ; Gross, Myron M; Haiman, Christopher A CA; Hassan, Manal M; Helzlsouer, Kathy J KJ; Henderson, Brian E BE; Holly, Elizabeth A EA; Hu, Nan N; Hunter, David J DJ; Innocenti, Federico F; Jenab, Mazda M; Kaaks, Rudolf R; Key, Timothy J TJ; Khaw, Kay-Tee KT; Klein, Eric A EA; Kogevinas, Manolis M; Krogh, Vittorio V; Kupcinskas, Juozas J; Kurtz, Robert C RC; LaCroix, Andrea A; Landi, Maria T MT; Landi, Stefano S; Le Marchand, Loic L; Mambrini, Andrea A; Mannisto, Satu S; Milne, Roger L RL; Nakamura, Yusuke Y; Oberg, Ann L AL; Owzar, Kouros K; Patel, Alpa V AV; Peeters, Petra H M PH; Peters, Ulrike U; Pezzilli, Raffaele R; Piepoli, Ada A; Porta, Miquel M; Real, Francisco X FX; Riboli, Elio E; Rothman, Nathaniel N; Scarpa, Aldo A; Shu, Xiao-Ou XO; Silverman, Debra T DT; Soucek, Pavel P; Sund, Malin M; Talar-Wojnarowska, Renata R; Taylor, Philip R PR; Theodoropoulos, George E GE; Thornquist, Mark M; Tjønneland, Anne A; Tobias, Geoffrey S GS; Trichopoulos, Dimitrios D; Vodicka, Pavel P; Wactawski-Wende, Jean J; Wentzensen, Nicolas N; Wu, Chen C; Yu, Herbert H; Yu, Kai K; Zeleniuch-Jacquotte, Anne A; Hoover, Robert R; Hartge, Patricia P; Fuchs, Charles C; Chanock, Stephen J SJ; Stolzenberg-Solomon, Rachael S RS; Amundadottir, Laufey T LT
Publication Date: 2014-09

Variant appearance in text: rs4962153
PubMed Link: 25086665
Variant Present in the following documents:
  • Main text
  • nihms612903.pdf
View BVdb publication page



Reduced ADAMTS13 activity is associated with an ADAMTS13 SNP, fever and microparticles in a malaria-like model.

Malaria Journal
Kraisin, Sirima S; Palasuwan, Attakorn A; Popruk, Supaluk S; Nantakomol, Duangdao D
Publication Date: 2014-01-03

Variant appearance in text: rs4962153
PubMed Link: 24386898
Variant Present in the following documents:
  • Main text
  • 1475-2875-13-3.pdf
View BVdb publication page



Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Desch, Karl C KC; Ozel, Ayse B AB; Siemieniak, David D; Kalish, Yossi Y; Shavit, Jordan A JA; Thornburg, Courtney D CD; Sharathkumar, Anjali A AA; McHugh, Caitlin P CP; Laurie, Cathy C CC; Crenshaw, Andrew A; Mirel, Daniel B DB; Kim, Yoonhee Y; Cropp, Cheryl D CD; Molloy, Anne M AM; Kirke, Peadar N PN; Bailey-Wilson, Joan E JE; Wilson, Alexander F AF; Mills, James L JL; Scott, John M JM; Brody, Lawrence C LC; Li, Jun Z JZ; Ginsburg, David D
Publication Date: 2013-01-08

Variant appearance in text: rs4962153
PubMed Link: 23267103
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of ADAMTS13 polymorphism with cerebral malaria.

Malaria Journal
Kraisin, Sirima S; Naka, Izumi I; Patarapotikul, Jintana J; Nantakomol, Duangdao D; Nuchnoi, Pornlada P; Hananantachai, Hathairad H; Tsuchiya, Naoyuki N; Ohashi, Jun J
Publication Date: 2011-12-14

Variant appearance in text: rs4962153
PubMed Link: 22168261
Variant Present in the following documents:
  • Main text
  • 1475-2875-10-366.pdf
View BVdb publication page



Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin.

Arteriosclerosis, Thrombosis, And Vascular Biology
Paterson, Andrew D AD; Lopes-Virella, Maria F MF; Waggott, Daryl D; Boright, Andrew P AP; Hosseini, S Mohsen SM; Carter, Rickey E RE; Shen, Enqing E; Mirea, Lucia L; Bharaj, Bhupinder B; Sun, Lei L; Bull, Shelley B SB; ,
Publication Date: 2009-11

Variant appearance in text: rs4962153
PubMed Link: 19729612
Variant Present in the following documents:
  • Main text
View BVdb publication page