KNG1 c.931-2708A>C

Variant ID: 3-186454180-A-C

NM_001102416.2(KNG1):c.931-2708A>C

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Identifying potential biomarkers for the diagnosis and treatment of IgA nephropathy based on bioinformatics analysis.

Bmc Medical Genomics
Li, Xiaohui X; Zeng, Mengru M; Liu, Jialu J; Zhang, Shumin S; Liu, Yifei Y; Zhao, Yuee Y; Wei, Cong C; Yang, Kexin K; Huang, Ying Y; Zhang, Lei L; Xiao, Li L
Publication Date: 2023-03-28

Variant appearance in text: rs5030062
PubMed Link: 36978098
Variant Present in the following documents:
  • Main text
  • 12920_2023_Article_1494.pdf
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Haplotypic variants of COVID-19 related genes are associated with blood pressure and metabolites levels.

Journal Of Medical Virology
Gholami, Morteza M; Zoughi, Marziyeh M; Hasanzad, Mandana M; Larijani, Bagher B; Amoli, Mahsa M MM
Publication Date: 2022-11-28

Variant appearance in text: rs5030062
PubMed Link: 36443248
Variant Present in the following documents:
  • Main text
  • JMV-95-0.pdf
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Decreased plasma kallikrein activity is associated with reduced kidney function in individuals with type 1 diabetes.

Diabetologia
Härma, Mari-Anne MA; Dahlström, Emma H EH; Sandholm, Niina N; Forsblom, Carol C; Groop, Per-Henrik PH; Lehto, Markku M; ,
Publication Date: 2020-07

Variant appearance in text: rs5030062
PubMed Link: 32270254
Variant Present in the following documents:
  • Main text
  • 125_2020_Article_5144.pdf
  • 125_2020_5144_MOESM1_ESM.pdf
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Prospective study of plasma high molecular weight kininogen and prekallikrein and incidence of coronary heart disease, ischemic stroke and heart failure.

Thrombosis Research
Parikh, Romil R RR; Folsom, Aaron R AR; Misialek, Jeffrey R JR; Rosamond, Wayne D WD; Chang, Patricia P PP; Tang, Weihong W; Cushman, Mary M
Publication Date: 2019-10

Variant appearance in text: rs5030062
PubMed Link: 31473403
Variant Present in the following documents:
  • Main text
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Genetic and Epigenetic Studies in Diabetic Kidney Disease.

Frontiers In Genetics
Gu, Harvest F HF
Publication Date: 2019

Variant appearance in text: rs5030062
PubMed Link: 31231424
Variant Present in the following documents:
  • Main text
  • fgene-10-00507.pdf
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Phenome-wide association studies across large population cohorts support drug target validation.

Nature Communications
Diogo, Dorothée D; Tian, Chao C; Franklin, Christopher S CS; Alanne-Kinnunen, Mervi M; March, Michael M; Spencer, Chris C A CCA; Vangjeli, Ciara C; Weale, Michael E ME; Mattsson, Hannele H; Kilpeläinen, Elina E; Sleiman, Patrick M A PMA; Reilly, Dermot F DF; McElwee, Joshua J; Maranville, Joseph C JC; Chatterjee, Arnaub K AK; Bhandari, Aman A; Nguyen, Khanh-Dung H KH; Estrada, Karol K; Reeve, Mary-Pat MP; Hutz, Janna J; Bing, Nan N; John, Sally S; MacArthur, Daniel G DG; Salomaa, Veikko V; Ripatti, Samuli S; Hakonarson, Hakon H; Daly, Mark J MJ; Palotie, Aarno A; Hinds, David A DA; Donnelly, Peter P; Fox, Caroline S CS; Day-Williams, Aaron G AG; Plenge, Robert M RM; Runz, Heiko H
Publication Date: 2018-10-16

Variant appearance in text: rs5030062
PubMed Link: 30327483
Variant Present in the following documents:
  • Main text
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ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci.

Nucleic Acids Research
Stacey, David D; Fauman, Eric B EB; Ziemek, Daniel D; Sun, Benjamin B BB; Harshfield, Eric L EL; Wood, Angela M AM; Butterworth, Adam S AS; Suhre, Karsten K; Paul, Dirk S DS
Publication Date: 2019-01-10

Variant appearance in text: rs5030062
PubMed Link: 30239796
Variant Present in the following documents:
  • Main text
  • gky837.pdf
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Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis.

Plos One
Martin-Fernandez, Laura L; Gavidia-Bovadilla, Giovana G; Corrales, Irene I; Brunel, Helena H; Ramírez, Lorena L; López, Sonia S; Souto, Juan Carlos JC; Vidal, Francisco F; Soria, José Manuel JM
Publication Date: 2017

Variant appearance in text: KNG1: 931-2708A>C; rs5030062
PubMed Link: 28445521
Variant Present in the following documents:
  • Main text
  • pone.0176301.pdf
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Connecting genetic risk to disease end points through the human blood plasma proteome.

Nature Communications
Suhre, Karsten K; Arnold, Matthias M; Bhagwat, Aditya Mukund AM; Cotton, Richard J RJ; Engelke, Rudolf R; Raffler, Johannes J; Sarwath, Hina H; Thareja, Gaurav G; Wahl, Annika A; DeLisle, Robert Kirk RK; Gold, Larry L; Pezer, Marija M; Lauc, Gordan G; El-Din Selim, Mohammed A MA; Mook-Kanamori, Dennis O DO; Al-Dous, Eman K EK; Mohamoud, Yasmin A YA; Malek, Joel J; Strauch, Konstantin K; Grallert, Harald H; Peters, Annette A; Kastenmüller, Gabi G; Gieger, Christian C; Graumann, Johannes J
Publication Date: 2017-02-27

Variant appearance in text: rs5030062
PubMed Link: 28240269
Variant Present in the following documents:
  • Main text
  • ncomms14357-s1.pdf
  • ncomms14357.pdf
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Polymorphisms at the F12 and KLKB1 loci have significant trait association with activation of the renin-angiotensin system.

Bmc Medical Genetics
Biswas, Nilima N; Maihofer, Adam X AX; Mir, Saiful Anam SA; Rao, Fangwen F; Zhang, Kuixing K; Khandrika, Srikrishna S; Mahata, Manjula M; Friese, Ryan S RS; Hightower, C Makena CM; Mahata, Sushil K SK; Baker, Dewleen G DG; Nievergelt, Caroline M CM; Vaingankar, Sucheta M SM; O'Connor, Daniel T DT
Publication Date: 2016-03-11

Variant appearance in text: rs5030062
PubMed Link: 26969407
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_283.pdf
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Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.

American Journal Of Hematology
Tang, Weihong W; Cushman, Mary M; Green, David D; Rich, Stephen S SS; Lange, Leslie A LA; Yang, Qiong Q; Tracy, Russell P RP; Tofler, Geoffrey H GH; Basu, Saonli S; Wilson, James G JG; Keating, Brendan J BJ; Weng, Lu-Chen LC; Taylor, Herman A HA; Jacobs, David R DR; Delaney, Joseph A JA; Palmer, Cameron D CD; Young, Taylor T; Pankow, James S JS; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Reiner, Alexander P AP; Folsom, Aaron R AR
Publication Date: 2015-06

Variant appearance in text: rs5030062
PubMed Link: 25779970
Variant Present in the following documents:
  • Main text
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Genome-wide meta-analyses of plasma renin activity and concentration reveal association with the kininogen 1 and prekallikrein genes.

Circulation. Cardiovascular Genetics
Lieb, Wolfgang W; Chen, Ming-Huei MH; Teumer, Alexander A; de Boer, Rudolf A RA; Lin, Honghuang H; Fox, Ervin R ER; Musani, Solomon K SK; Wilson, James G JG; Wang, Thomas J TJ; Völzke, Henry H; Petersen, Ann-Kristin AK; Meisinger, Christine C; Nauck, Matthias M; Schlesinger, Sabrina S; Li, Yong Y; Menard, Jöel J; Hercberg, Serge S; Wichmann, H-Erich HE; Völker, Uwe U; Rawal, Rajesh R; Bidlingmaier, Martin M; Hannemann, Anke A; Dörr, Marcus M; Rettig, Rainer R; van Gilst, Wiek H WH; van Veldhuisen, Dirk J DJ; Bakker, Stephan J L SJ; Navis, Gerjan G; Wallaschofski, Henri H; Meneton, Pierre P; van der Harst, Pim P; Reincke, Martin M; Vasan, Ramachandran S RS; , ; , ; ,
Publication Date: 2015-02

Variant appearance in text: rs5030062
PubMed Link: 25477429
Variant Present in the following documents:
  • Main text
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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07

Variant appearance in text: rs5030062
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
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PharmGKB summary: Diuretics pathway, pharmacodynamics.

Pharmacogenetics And Genomics
Thorn, Caroline F CF; Ellison, David H DH; Turner, Stephen T ST; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2013-08

Variant appearance in text: rs5030062
PubMed Link: 23788015
Variant Present in the following documents:
  • Main text
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A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array.

European Journal Of Human Genetics : Ejhg
Gaunt, Tom R TR; Lowe, Gordon D O GD; Lawlor, Debbie A DA; Casas, Juan-Pablo JP; Day, Ian N M IN
Publication Date: 2013-07

Variant appearance in text: rs5030062
PubMed Link: 23188048
Variant Present in the following documents:
  • Main text
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Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.

American Journal Of Human Genetics
Houlihan, Lorna M LM; Davies, Gail G; Tenesa, Albert A; Harris, Sarah E SE; Luciano, Michelle M; Gow, Alan J AJ; McGhee, Kevin A KA; Liewald, David C DC; Porteous, David J DJ; Starr, John M JM; Lowe, Gordon D GD; Visscher, Peter M PM; Deary, Ian J IJ
Publication Date: 2010-04-09

Variant appearance in text: rs5030062
PubMed Link: 20303064
Variant Present in the following documents:
  • Main text
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Kininogen gene (KNG) variation has a consistent effect on aldosterone response to antihypertensive drug therapy: the GERA study.

Physiological Genomics
Barbalic, Maja M; Schwartz, Gary L GL; Chapman, Arlene B AB; Turner, Stephen T ST; Boerwinkle, Eric E
Publication Date: 2009-09-09

Variant appearance in text: rs5030062
PubMed Link: 19584173
Variant Present in the following documents:
  • Main text
View BVdb publication page