IL6R c.641-47A>T

Variant ID: 1-154407419-A-T

NM_000565.3(IL6R):c.641-47A>T

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs7518199
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: rs7518199
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Cumulative Evidence for Associations Between Genetic Variants in Interleukin 6 Receptor Gene and Human Diseases and Phenotypes.

Frontiers In Immunology
Zhang, Min M; Bai, Ye Y; Wang, Yutong Y; Cui, Huijie H; Tang, Mingshuang M; Wang, Lanbing L; Wang, Xin X; Gu, Dongqing D
Publication Date: 2022

Variant appearance in text: rs7518199
PubMed Link: 35493452
Variant Present in the following documents:
  • Main text
  • fimmu-13-860703.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs7518199
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.

Aids (London, England)
Sherman, Brad T BT; Hu, Xiaojun X; Singh, Kanal K; Haine, Lillian L; Rupert, Adam W AW; Neaton, James D JD; Lundgren, Jens D JD; Imamichi, Tomozumi T; Chang, Weizhong W; Lane, H Clifford HC; ,
Publication Date: 2021-02-02

Variant appearance in text: rs7518199
PubMed Link: 33095540
Variant Present in the following documents:
  • aids-35-193-s003.xlsx, sheet 1
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs7518199
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs7518199
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs7518199
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.

Circulation Research
Jones, Gregory T GT; Tromp, Gerard G; Kuivaniemi, Helena H; Gretarsdottir, Solveig S; Baas, Annette F AF; Giusti, Betti B; Strauss, Ewa E; Van't Hof, Femke N G FN; Webb, Thomas R TR; Erdman, Robert R; Ritchie, Marylyn D MD; Elmore, James R JR; Verma, Anurag A; Pendergrass, Sarah S; Kullo, Iftikhar J IJ; Ye, Zi Z; Peissig, Peggy L PL; Gottesman, Omri O; Verma, Shefali S SS; Malinowski, Jennifer J; Rasmussen-Torvik, Laura J LJ; Borthwick, Kenneth M KM; Smelser, Diane T DT; Crosslin, David R DR; de Andrade, Mariza M; Ryer, Evan J EJ; McCarty, Catherine A CA; Böttinger, Erwin P EP; Pacheco, Jennifer A JA; Crawford, Dana C DC; Carrell, David S DS; Gerhard, Glenn S GS; Franklin, David P DP; Carey, David J DJ; Phillips, Victoria L VL; Williams, Michael J A MJ; Wei, Wenhua W; Blair, Ross R; Hill, Andrew A AA; Vasudevan, Thodor M TM; Lewis, David R DR; Thomson, Ian A IA; Krysa, Jo J; Hill, Geraldine B GB; Roake, Justin J; Merriman, Tony R TR; Oszkinis, Grzegorz G; Galora, Silvia S; Saracini, Claudia C; Abbate, Rosanna R; Pulli, Raffaele R; Pratesi, Carlo C; Saratzis, Athanasios A; Verissimo, Ana R AR; Bumpstead, Suzannah S; Badger, Stephen A SA; Clough, Rachel E RE; Cockerill, Gillian G; Hafez, Hany H; Scott, D Julian A DJ; Futers, T Simon TS; Romaine, Simon P R SP; Bridge, Katherine K; Griffin, Kathryn J KJ; Bailey, Marc A MA; Smith, Alberto A; Thompson, Matthew M MM; van Bockxmeer, Frank M FM; Matthiasson, Stefan E SE; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Blankensteijn, Jan D JD; Teijink, Joep A W JA; Wijmenga, Cisca C; de Graaf, Jacqueline J; Kiemeney, Lambertus A LA; Lindholt, Jes S JS; Hughes, Anne A; Bradley, Declan T DT; Stirrups, Kathleen K; Golledge, Jonathan J; Norman, Paul E PE; Powell, Janet T JT; Humphries, Steve E SE; Hamby, Stephen E SE; Goodall, Alison H AH; Nelson, Christopher P CP; Sakalihasan, Natzi N; Courtois, Audrey A; Ferrell, Robert E RE; Eriksson, Per P; Folkersen, Lasse L; Franco-Cereceda, Anders A; Eicher, John D JD; Johnson, Andrew D AD; Betsholtz, Christer C; Ruusalepp, Arno A; Franzén, Oscar O; Schadt, Eric E EE; Björkegren, Johan L M JL; Lipovich, Leonard L; Drolet, Anne M AM; Verhoeven, Eric L EL; Zeebregts, Clark J CJ; Geelkerken, Robert H RH; van Sambeek, Marc R MR; van Sterkenburg, Steven M SM; de Vries, Jean-Paul JP; Stefansson, Kari K; Thompson, John R JR; de Bakker, Paul I W PI; Deloukas, Panos P; Sayers, Robert D RD; Harrison, Seamus C SC; van Rij, Andre M AM; Samani, Nilesh J NJ; Bown, Matthew J MJ
Publication Date: 2017-01-20

Variant appearance in text: rs7518199
PubMed Link: 27899403
Variant Present in the following documents:
  • res-120-341-s002.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs7518199
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Analysis of the role of interleukin 6 receptor haplotypes in the regulation of circulating levels of inflammatory biomarkers and risk of coronary heart disease.

Plos One
Gigante, Bruna B; Strawbridge, Rona J RJ; Velasquez, Ilais Moreno IM; Golabkesh, Zahra Z; Silveira, Angela A; Goel, Anuj A; Baldassarre, Damiano D; Veglia, Fabrizio F; Tremoli, Elena E; Clarke, Robert R; Watkins, Hugh H; Hamsten, Anders A; Humphries, Steve E SE; de Faire, Ulf U
Publication Date: 2015

Variant appearance in text: rs7518199
PubMed Link: 25781951
Variant Present in the following documents:
  • Main text
  • pone.0119980.pdf
View BVdb publication page



Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.

Plos Genetics
Kauwe, John S K JS; Bailey, Matthew H MH; Ridge, Perry G PG; Perry, Rachel R; Wadsworth, Mark E ME; Hoyt, Kaitlyn L KL; Staley, Lyndsay A LA; Karch, Celeste M CM; Harari, Oscar O; Cruchaga, Carlos C; Ainscough, Benjamin J BJ; Bales, Kelly K; Pickering, Eve H EH; Bertelsen, Sarah S; , ; Fagan, Anne M AM; Holtzman, David M DM; Morris, John C JC; Goate, Alison M AM
Publication Date: 2014-10

Variant appearance in text: rs7518199
PubMed Link: 25340798
Variant Present in the following documents:
  • pgen.1004758.s006.xlsx, sheet 1
View BVdb publication page



The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.

Lancet (London, England)
, ; Swerdlow, Daniel I DI; Holmes, Michael V MV; Kuchenbaecker, Karoline B KB; Engmann, Jorgen E L JE; Shah, Tina T; Sofat, Reecha R; Guo, Yiran Y; Chung, Christina C; Peasey, Anne A; Pfister, Roman R; Mooijaart, Simon P SP; Ireland, Helen A HA; Leusink, Maarten M; Langenberg, Claudia C; Li, Ka Wah KW; Palmen, Jutta J; Howard, Philip P; Cooper, Jackie A JA; Drenos, Fotios F; Hardy, John J; Nalls, Michael A MA; Li, Yun Rose YR; Lowe, Gordon G; Stewart, Marlene M; Bielinski, Suzette J SJ; Peto, Julian J; Timpson, Nicholas J NJ; Gallacher, John J; Dunlop, Malcolm M; Houlston, Richard R; Tomlinson, Ian I; Tzoulaki, Ioanna I; Luan, Jian'an J; Boer, Jolanda M A JM; Forouhi, Nita G NG; Onland-Moret, N Charlotte NC; van der Schouw, Yvonne T YT; Schnabel, Renate B RB; Hubacek, Jaroslav A JA; Kubinova, Ruzena R; Baceviciene, Migle M; Tamosiunas, Abdonas A; Pajak, Andrzej A; Topor-Madry, Roman R; Malyutina, Sofia S; Baldassarre, Damiano D; Sennblad, Bengt B; Tremoli, Elena E; de Faire, Ulf U; Ferrucci, Luigi L; Bandenelli, Stefania S; Tanaka, Toshiko T; Meschia, James F JF; Singleton, Andrew A; Navis, Gerjan G; Mateo Leach, Irene I; Bakker, Stephan J L SJ; Gansevoort, Ron T RT; Ford, Ian I; Epstein, Stephen E SE; Burnett, Mary Susan MS; Devaney, Joe M JM; Jukema, J Wouter JW; Westendorp, Rudi G J RG; Jan de Borst, Gert G; van der Graaf, Yolanda Y; de Jong, Pim A PA; Mailand-van der Zee, Anke-Hilse AH; Klungel, Olaf H OH; de Boer, Anthonius A; Doevendans, Pieter A PA; Stephens, Jeffrey W JW; Eaton, Charles B CB; Robinson, Jennifer G JG; Manson, JoAnn E JE; Fowkes, F Gerry FG; Frayling, Timonthy M TM; Price, Jackie F JF; Whincup, Peter H PH; Morris, Richard W RW; Lawlor, Debbie A DA; Smith, George Davey GD; Ben-Shlomo, Yoav Y; Redline, Susan S; Lange, Leslie A LA; Kumari, Meena M; Wareham, Nick J NJ; Verschuren, W M Monique WM; Benjamin, Emelia J EJ; Whittaker, John C JC; Hamsten, Anders A; Dudbridge, Frank F; Delaney, J A Chris JA; Wong, Andrew A; Kuh, Diana D; Hardy, Rebecca R; Castillo, Berta Almoguera BA; Connolly, John J JJ; van der Harst, Pim P; Brunner, Eric J EJ; Marmot, Michael G MG; Wassel, Christina L CL; Humphries, Steve E SE; Talmud, Philippa J PJ; Kivimaki, Mika M; Asselbergs, Folkert W FW; Voevoda, Mikhail M; Bobak, Martin M; Pikhart, Hynek H; Wilson, James G JG; Hakonarson, Hakon H; Reiner, Alex P AP; Keating, Brendan J BJ; Sattar, Naveed N; Hingorani, Aroon D AD; Casas, Juan Pablo JP
Publication Date: 2012-03-31

Variant appearance in text: rs7518199
PubMed Link: 22421340
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Genetic variation in proinflammatory cytokines IL6, IL6R, TNF-region, and TNFRSF1A and risk of breast cancer.

Breast Cancer Research And Treatment
Madeleine, Margaret M MM; Johnson, Lisa G LG; Malkki, Mari M; Resler, Alexa J AJ; Petersdorf, Effie W EW; McKnight, Barbara B; Malone, Kathleen E KE
Publication Date: 2011-10

Variant appearance in text: rs7518199
PubMed Link: 21523452
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults.

Experimental Gerontology
Walston, Jeremy D JD; Matteini, Amy M AM; Nievergelt, Caroline C; Lange, Leslie A LA; Fallin, Dani M DM; Barzilai, Nir N; Ziv, Elad E; Pawlikowska, Ludmila L; Kwok, Pui P; Cummings, Steve R SR; Kooperberg, Charles C; LaCroix, Andrea A; Tracy, Russell P RP; Atzmon, Gil G; Lange, Ethan M EM; Reiner, Alex P AP
Publication Date: 2009-05

Variant appearance in text: rs7518199
PubMed Link: 19249341
Variant Present in the following documents:
  • Main text
View BVdb publication page



Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels.

American Journal Of Human Genetics
Reich, David D; Patterson, Nick N; Ramesh, Vijaya V; De Jager, Philip L PL; McDonald, Gavin J GJ; Tandon, Arti A; Choy, Edwin E; Hu, Donglei D; Tamraz, Bani B; Pawlikowska, Ludmila L; Wassel-Fyr, Christina C; Huntsman, Scott S; Waliszewska, Alicja A; Rossin, Elizabeth E; Li, Rongling R; Garcia, Melissa M; Reiner, Alexander A; Ferrell, Robert R; Cummings, Steve S; Kwok, Pui-Yan PY; Harris, Tamara T; Zmuda, Joseph M JM; Ziv, Elad E; ,
Publication Date: 2007-04

Variant appearance in text: rs7518199
PubMed Link: 17357077
Variant Present in the following documents:
  • Main text
View BVdb publication page