SWAP70 c.898+198G>C

Variant ID: 11-9751196-G-C

NM_015055.2(SWAP70):c.898+198G>C

This variant was identified in 23 publications

View GRCh38 version.




Publications:


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: rs10840293
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs10840293
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs10840293
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Life (Basel, Switzerland)
Butnariu, Lăcrămioara Ionela LI; Florea, Laura L; Badescu, Minerva Codruta MC; Țarcă, Elena E; Costache, Irina-Iuliana II; Gorduza, Eusebiu Vlad EV
Publication Date: 2022-06-09

Variant appearance in text: rs10840293
PubMed Link: 35743896
Variant Present in the following documents:
  • life-12-00865.pdf
View BVdb publication page



Polygenic risk for coronary artery disease in the Scottish and English population.

Bmc Cardiovascular Disorders
Yang, Chuhua C; Starnecker, Fabian F; Pang, Shichao S; Chen, Zhifen Z; Güldener, Ulrich U; Li, Ling L; Heinig, Matthias M; Schunkert, Heribert H
Publication Date: 2021-12-07

Variant appearance in text: rs10840293
PubMed Link: 34876023
Variant Present in the following documents:
  • 12872_2021_2398_MOESM1_ESM.pdf
View BVdb publication page



Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Publication Date: 2021-09

Variant appearance in text: rs10840293
PubMed Link: 34226943
Variant Present in the following documents:
  • 125_2021_5491_MOESM1_ESM.pdf
View BVdb publication page



Cardiovascular risk factor mediation of the effects of education and Genetic Risk Score on cardiovascular disease: a prospective observational cohort study of the Framingham Heart Study.

Bmj Open
Powell, Katie L KL; Stephens, Sebastien R SR; Stephens, Alexandre S AS
Publication Date: 2021-01-12

Variant appearance in text: rs10840293
PubMed Link: 33436477
Variant Present in the following documents:
  • bmjopen-2020-045210.draft_revisions.pdf
View BVdb publication page



Sarcopenia-related traits and coronary artery disease: a bi-directional Mendelian randomization study.

Aging
Liu, Hui-Min HM; Zhang, Qiang Q; Shen, Wen-Di WD; Li, Bo-Yang BY; Lv, Wan-Qiang WQ; Xiao, Hong-Mei HM; Deng, Hong-Wen HW
Publication Date: 2020-02-16

Variant appearance in text: rs10840293
PubMed Link: 32062614
Variant Present in the following documents:
  • Main text
  • aging-12-102815.pdf
View BVdb publication page



Precision Medicine and Cardiovascular Health: Insights from Mendelian Randomization Analyses.

Korean Circulation Journal
Spiller, Wes W; Jung, Keum Ji KJ; Lee, Ji Young JY; Jee, Sun Ha SH
Publication Date: 2020-02

Variant appearance in text: rs10840293
PubMed Link: 31845553
Variant Present in the following documents:
  • Main text
  • kcj-50-91.pdf
View BVdb publication page



PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations.

Bioinformatics (Oxford, England)
Kamat, Mihir A MA; Blackshaw, James A JA; Young, Robin R; Surendran, Praveen P; Burgess, Stephen S; Danesh, John J; Butterworth, Adam S AS; Staley, James R JR
Publication Date: 2019-11-01

Variant appearance in text: rs10840293
PubMed Link: 31233103
Variant Present in the following documents:
  • Main text
  • btz469.pdf
View BVdb publication page



Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)
Wang, Yan Y; Wang, Ji-Guang JG
Publication Date: 2019-04

Variant appearance in text: rs10840293
PubMed Link: 31049317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypertension genomics and cardiovascular prevention.

Annals Of Translational Medicine
Ng, Fu Liang FL; Warren, Helen R HR; Caulfield, Mark J MJ
Publication Date: 2018-08

Variant appearance in text: rs10840293
PubMed Link: 30211179
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of coronary artery disease among individuals with diabetes: the UK Biobank.

Diabetologia
Fall, Tove T; Gustafsson, Stefan S; Orho-Melander, Marju M; Ingelsson, Erik E
Publication Date: 2018-10

Variant appearance in text: rs10840293
PubMed Link: 30003307
Variant Present in the following documents:
  • 125_2018_4686_MOESM1_ESM.pdf
View BVdb publication page



Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.

Nature Communications
Barbeira, Alvaro N AN; Dickinson, Scott P SP; Bonazzola, Rodrigo R; Zheng, Jiamao J; Wheeler, Heather E HE; Torres, Jason M JM; Torstenson, Eric S ES; Shah, Kaanan P KP; Garcia, Tzintzuni T; Edwards, Todd L TL; Stahl, Eli A EA; Huckins, Laura M LM; , ; Nicolae, Dan L DL; Cox, Nancy J NJ; Im, Hae Kyung HK
Publication Date: 2018-05-08

Variant appearance in text: rs10840293
PubMed Link: 29739930
Variant Present in the following documents:
  • 41467_2018_3621_MOESM1_ESM.pdf
View BVdb publication page



Proficiency of data interpretation: identification of signaling SNPs/specific loci for coronary artery disease.

Database : The Journal Of Biological Databases And Curation
Cheema, Asma N AN; Rosenthal, Samantha L SL; Ilyas Kamboh, M M
Publication Date: 2017-01-01

Variant appearance in text: rs10840293
PubMed Link: 29220472
Variant Present in the following documents:
  • Main text
  • bax078.pdf
View BVdb publication page



Genetic loci associated with coronary artery disease harbor evidence of selection and antagonistic pleiotropy.

Plos Genetics
Byars, Sean G SG; Huang, Qin Qin QQ; Gray, Lesley-Ann LA; Bakshi, Andrew A; Ripatti, Samuli S; Abraham, Gad G; Stearns, Stephen C SC; Inouye, Michael M
Publication Date: 2017-06

Variant appearance in text: rs10840293
PubMed Link: 28640878
Variant Present in the following documents:
  • pgen.1006328.s006.pdf
View BVdb publication page



The Genetic Architecture of Coronary Artery Disease: Current Knowledge and Future Opportunities.

Current Atherosclerosis Reports
Hartiala, Jaana J; Schwartzman, William S WS; Gabbay, Julian J; Ghazalpour, Anatole A; Bennett, Brian J BJ; Allayee, Hooman H
Publication Date: 2017-02

Variant appearance in text: rs10840293
PubMed Link: 28130654
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies.

Genome Biology
Joehanes, Roby R; Zhang, Xiaoling X; Huan, Tianxiao T; Yao, Chen C; Ying, Sai-Xia SX; Nguyen, Quang Tri QT; Demirkale, Cumhur Yusuf CY; Feolo, Michael L ML; Sharopova, Nataliya R NR; Sturcke, Anne A; Schäffer, Alejandro A AA; Heard-Costa, Nancy N; Chen, Han H; Liu, Po-Ching PC; Wang, Richard R; Woodhouse, Kimberly A KA; Tanriverdi, Kahraman K; Freedman, Jane E JE; Raghavachari, Nalini N; Dupuis, Josée J; Johnson, Andrew D AD; O'Donnell, Christopher J CJ; Levy, Daniel D; Munson, Peter J PJ
Publication Date: 2017-01-25

Variant appearance in text: rs10840293
PubMed Link: 28122634
Variant Present in the following documents:
  • 13059_2016_1142_MOESM1_ESM.pdf
View BVdb publication page



PhenoScanner: a database of human genotype-phenotype associations.

Bioinformatics (Oxford, England)
Staley, James R JR; Blackshaw, James J; Kamat, Mihir A MA; Ellis, Steve S; Surendran, Praveen P; Sun, Benjamin B BB; Paul, Dirk S DS; Freitag, Daniel D; Burgess, Stephen S; Danesh, John J; Young, Robin R; Butterworth, Adam S AS
Publication Date: 2016-10-15

Variant appearance in text: rs10840293
PubMed Link: 27318201
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

Embo Molecular Medicine
Kessler, Thorsten T; Vilne, Baiba B; Schunkert, Heribert H
Publication Date: 2016-07

Variant appearance in text: rs10840293
PubMed Link: 27189168
Variant Present in the following documents:
  • Main text
View BVdb publication page



From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease.

Circulation Research
Nurnberg, Sylvia T ST; Zhang, Hanrui H; Hand, Nicholas J NJ; Bauer, Robert C RC; Saleheen, Danish D; Reilly, Muredach P MP; Rader, Daniel J DJ
Publication Date: 2016-02-19

Variant appearance in text: rs10840293
PubMed Link: 26892960
Variant Present in the following documents:
  • Main text
View BVdb publication page



Experimental Biology for the Identification of Causal Pathways in Atherosclerosis.

Cardiovascular Drugs And Therapy
Guo, Yanhong Y; Garcia-Barrio, Minerva T MT; Wang, Laiyuan L; Chen, Y Eugene YE
Publication Date: 2016-02

Variant appearance in text: rs10840293
PubMed Link: 26847647
Variant Present in the following documents:
  • Main text
  • 10557_2016_Article_6644.pdf
View BVdb publication page



A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

Nature Genetics
Nikpay, Majid M; Goel, Anuj A; Won, Hong-Hee HH; Hall, Leanne M LM; Willenborg, Christina C; Kanoni, Stavroula S; Saleheen, Danish D; Kyriakou, Theodosios T; Nelson, Christopher P CP; Hopewell, Jemma C JC; Webb, Thomas R TR; Zeng, Lingyao L; Dehghan, Abbas A; Alver, Maris M; Armasu, Sebastian M SM; Auro, Kirsi K; Bjonnes, Andrew A; Chasman, Daniel I DI; Chen, Shufeng S; Ford, Ian I; Franceschini, Nora N; Gieger, Christian C; Grace, Christopher C; Gustafsson, Stefan S; Huang, Jie J; Hwang, Shih-Jen SJ; Kim, Yun Kyoung YK; Kleber, Marcus E ME; Lau, King Wai KW; Lu, Xiangfeng X; Lu, Yingchang Y; Lyytikäinen, Leo-Pekka LP; Mihailov, Evelin E; Morrison, Alanna C AC; Pervjakova, Natalia N; Qu, Liming L; Rose, Lynda M LM; Salfati, Elias E; Saxena, Richa R; Scholz, Markus M; Smith, Albert V AV; Tikkanen, Emmi E; Uitterlinden, Andre A; Yang, Xueli X; Zhang, Weihua W; Zhao, Wei W; de Andrade, Mariza M; de Vries, Paul S PS; van Zuydam, Natalie R NR; Anand, Sonia S SS; Bertram, Lars L; Beutner, Frank F; Dedoussis, George G; Frossard, Philippe P; Gauguier, Dominique D; Goodall, Alison H AH; Gottesman, Omri O; Haber, Marc M; Han, Bok-Ghee BG; Huang, Jianfeng J; Jalilzadeh, Shapour S; Kessler, Thorsten T; König, Inke R IR; Lannfelt, Lars L; Lieb, Wolfgang W; Lind, Lars L; Lindgren, Cecilia M CM; Lokki, Marja-Liisa ML; Magnusson, Patrik K PK; Mallick, Nadeem H NH; Mehra, Narinder N; Meitinger, Thomas T; Memon, Fazal-Ur-Rehman FU; Morris, Andrew P AP; Nieminen, Markku S MS; Pedersen, Nancy L NL; Peters, Annette A; Rallidis, Loukianos S LS; Rasheed, Asif A; Samuel, Maria M; Shah, Svati H SH; Sinisalo, Juha J; Stirrups, Kathleen E KE; Trompet, Stella S; Wang, Laiyuan L; Zaman, Khan S KS; Ardissino, Diego D; Boerwinkle, Eric E; Borecki, Ingrid B IB; Bottinger, Erwin P EP; Buring, Julie E JE; Chambers, John C JC; Collins, Rory R; Cupples, L Adrienne LA; Danesh, John J; Demuth, Ilja I; Elosua, Roberto R; Epstein, Stephen E SE; Esko, Tõnu T; Feitosa, Mary F MF; Franco, Oscar H OH; Franzosi, Maria Grazia MG; Granger, Christopher B CB; Gu, Dongfeng D; Gudnason, Vilmundur V; Hall, Alistair S AS; Hamsten, Anders A; Harris, Tamara B TB; Hazen, Stanley L SL; Hengstenberg, Christian C; Hofman, Albert A; Ingelsson, Erik E; Iribarren, Carlos C; Jukema, J Wouter JW; Karhunen, Pekka J PJ; Kim, Bong-Jo BJ; Kooner, Jaspal S JS; Kullo, Iftikhar J IJ; Lehtimäki, Terho T; Loos, Ruth J F RJF; Melander, Olle O; Metspalu, Andres A; März, Winfried W; Palmer, Colin N CN; Perola, Markus M; Quertermous, Thomas T; Rader, Daniel J DJ; Ridker, Paul M PM; Ripatti, Samuli S; Roberts, Robert R; Salomaa, Veikko V; Sanghera, Dharambir K DK; Schwartz, Stephen M SM; Seedorf, Udo U; Stewart, Alexandre F AF; Stott, David J DJ; Thiery, Joachim J; Zalloua, Pierre A PA; O'Donnell, Christopher J CJ; Reilly, Muredach P MP; Assimes, Themistocles L TL; Thompson, John R JR; Erdmann, Jeanette J; Clarke, Robert R; Watkins, Hugh H; Kathiresan, Sekar S; McPherson, Ruth R; Deloukas, Panos P; Schunkert, Heribert H; Samani, Nilesh J NJ; Farrall, Martin M
Publication Date: 2015-10

Variant appearance in text: rs10840293
PubMed Link: 26343387
Variant Present in the following documents:
  • Main text
  • emss-64693.pdf
View BVdb publication page