IL6R c.807+81T>C

Variant ID: 1-154407713-T-C

NM_000565.3(IL6R):c.807+81T>C

This variant was identified in 10 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: rs7521458
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: rs7521458
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.

Cell Genomics
Zhou, Wei W; Kanai, Masahiro M; Wu, Kuan-Han H KH; Rasheed, Humaira H; Tsuo, Kristin K; Hirbo, Jibril B JB; Wang, Ying Y; Bhattacharya, Arjun A; Zhao, Huiling H; Namba, Shinichi S; Surakka, Ida I; Wolford, Brooke N BN; Lo Faro, Valeria V; Lopera-Maya, Esteban A EA; Läll, Kristi K; Favé, Marie-Julie MJ; Partanen, Juulia J JJ; Chapman, Sinéad B SB; Karjalainen, Juha J; Kurki, Mitja M; Maasha, Mutaamba M; Brumpton, Ben M BM; Chavan, Sameer S; Chen, Tzu-Ting TT; Daya, Michelle M; Ding, Yi Y; Feng, Yen-Chen A YA; Guare, Lindsay A LA; Gignoux, Christopher R CR; Graham, Sarah E SE; Hornsby, Whitney E WE; Ingold, Nathan N; Ismail, Said I SI; Johnson, Ruth R; Laisk, Triin T; Lin, Kuang K; Lv, Jun J; Millwood, Iona Y IY; Moreno-Grau, Sonia S; Nam, Kisung K; Palta, Priit P; Pandit, Anita A; Preuss, Michael H MH; Saad, Chadi C; Setia-Verma, Shefali S; Thorsteinsdottir, Unnur U; Uzunovic, Jasmina J; Verma, Anurag A; Zawistowski, Matthew M; Zhong, Xue X; Afifi, Nahla N; Al-Dabhani, Kawthar M KM; Al Thani, Asma A; Bradford, Yuki Y; Campbell, Archie A; Crooks, Kristy K; de Bock, Geertruida H GH; Damrauer, Scott M SM; Douville, Nicholas J NJ; Finer, Sarah S; Fritsche, Lars G LG; Fthenou, Eleni E; Gonzalez-Arroyo, Gilberto G; Griffiths, Christopher J CJ; Guo, Yu Y; Hunt, Karen A KA; Ioannidis, Alexander A; Jansonius, Nomdo M NM; Konuma, Takahiro T; Lee, Ming Ta Michael MTM; Lopez-Pineda, Arturo A; Matsuda, Yuta Y; Marioni, Riccardo E RE; Moatamed, Babak B; Nava-Aguilar, Marco A MA; Numakura, Kensuke K; Patil, Snehal S; Rafaels, Nicholas N; Richmond, Anne A; Rojas-Muñoz, Agustin A; Shortt, Jonathan A JA; Straub, Peter P; Tao, Ran R; Vanderwerff, Brett B; Vernekar, Manvi M; Veturi, Yogasudha Y; Barnes, Kathleen C KC; Boezen, Marike M; Chen, Zhengming Z; Chen, Chia-Yen CY; Cho, Judy J; Smith, George Davey GD; Finucane, Hilary K HK; Franke, Lude L; Gamazon, Eric R ER; Ganna, Andrea A; Gaunt, Tom R TR; Ge, Tian T; Huang, Hailiang H; Huffman, Jennifer J; Katsanis, Nicholas N; Koskela, Jukka T JT; Lajonchere, Clara C; Law, Matthew H MH; Li, Liming L; Lindgren, Cecilia M CM; Loos, Ruth J F RJF; MacGregor, Stuart S; Matsuda, Koichi K; Olsen, Catherine M CM; Porteous, David J DJ; Shavit, Jordan A JA; Snieder, Harold H; Takano, Tomohiro T; Trembath, Richard C RC; Vonk, Judith M JM; Whiteman, David C DC; Wicks, Stephen J SJ; Wijmenga, Cisca C; Wright, John J; Zheng, Jie J; Zhou, Xiang X; Awadalla, Philip P; Boehnke, Michael M; Bustamante, Carlos D CD; Cox, Nancy J NJ; Fatumo, Segun S; Geschwind, Daniel H DH; Hayward, Caroline C; Hveem, Kristian K; Kenny, Eimear E EE; Lee, Seunggeun S; Lin, Yen-Feng YF; Mbarek, Hamdi H; Mägi, Reedik R; Martin, Hilary C HC; Medland, Sarah E SE; Okada, Yukinori Y; Palotie, Aarno V AV; Pasaniuc, Bogdan B; Rader, Daniel J DJ; Ritchie, Marylyn D MD; Sanna, Serena S; Smoller, Jordan W JW; Stefansson, Kari K; van Heel, David A DA; Walters, Robin G RG; Zöllner, Sebastian S; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Martin, Alicia R AR; Willer, Cristen J CJ; Daly, Mark J MJ; Neale, Benjamin M BM
Publication Date: 2022-10-12

Variant appearance in text: rs7521458
PubMed Link: 36777996
Variant Present in the following documents:
  • mmc8.xlsx, sheet 1
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: rs7521458
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: rs7521458
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: rs7521458
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



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: rs7521458
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: rs7521458
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: rs7521458
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
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: rs7521458
PubMed Link: 25340798
Variant Present in the following documents:
  • pgen.1004758.s006.xlsx, sheet 1
View BVdb publication page