IL6R c.1135C>G ;(p.L379V)

Variant ID: 1-154427032-C-G

NM_000565.3(IL6R):c.1135C>G;(p.L379V)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances
Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF
Publication Date: 2022-08-23

Variant appearance in text: rs28730735
PubMed Link: 35381074
Variant Present in the following documents:
  • advancesADV2021005648-suppl1.pdf
View BVdb publication page



Genetics Insight for COVID-19 Susceptibility and Severity: A Review.

Frontiers In Immunology
Fricke-Galindo, Ingrid I; Falfán-Valencia, Ramcés R
Publication Date: 2021

Variant appearance in text: rs28730735
PubMed Link: 33868239
Variant Present in the following documents:
  • Main text
  • fimmu-12-622176.pdf
View BVdb publication page



Investigation of Genetic Variations of IL6 and IL6R as Potential Prognostic and Pharmacogenetics Biomarkers: Implications for COVID-19 and Neuroinflammatory Disorders.

Life (Basel, Switzerland)
Strafella, Claudia C; Caputo, Valerio V; Termine, Andrea A; Barati, Shila S; Caltagirone, Carlo C; Giardina, Emiliano E; Cascella, Raffaella R
Publication Date: 2020-12-16

Variant appearance in text: rs28730735
PubMed Link: 33339153
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs28730735
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: rs28730735
PubMed Link: 22421340
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page