IL7R c.221+1749C>T

Variant ID: 5-35862841-C-T

NM_002185.3(IL7R):c.221+1749C>T

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Pathogenesis of allergic diseases and implications for therapeutic interventions.

Signal Transduction And Targeted Therapy
Wang, Ji J; Zhou, Yumei Y; Zhang, Honglei H; Hu, Linhan L; Liu, Juntong J; Wang, Lei L; Wang, Tianyi T; Zhang, Haiyun H; Cong, Linpeng L; Wang, Qi Q
Publication Date: 2023-03-24

Variant appearance in text: rs7717955
PubMed Link: 36964157
Variant Present in the following documents:
  • Main text
  • 41392_2023_Article_1344.pdf
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Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.

European Journal Of Human Genetics : Ejhg
Gervais, Olivier O; Ueno, Kazuko K; Kawai, Yosuke Y; Hitomi, Yuki Y; Aiba, Yoshihiro Y; Ueta, Mayumi M; Nakamura, Minoru M; Tokunaga, Katsushi K; Nagasaki, Masao M
Publication Date: 2021-08

Variant appearance in text: rs7717955
PubMed Link: 33833419
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_854.pdf
View BVdb publication page



Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.

European Journal Of Human Genetics : Ejhg
Gervais, Olivier O; Ueno, Kazuko K; Kawai, Yosuke Y; Hitomi, Yuki Y; Aiba, Yoshihiro Y; Ueta, Mayumi M; Nakamura, Minoru M; Tokunaga, Katsushi K; Nagasaki, Masao M
Publication Date: 2021-08

Variant appearance in text: rs7717955
PubMed Link: 33833419
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_854.pdf
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: rs7717955
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

Nature Genetics
Waage, Johannes J; Standl, Marie M; Curtin, John A JA; Jessen, Leon E LE; Thorsen, Jonathan J; Tian, Chao C; Schoettler, Nathan N; , ; , ; Flores, Carlos C; Abdellaoui, Abdel A; Ahluwalia, Tarunveer S TS; Alves, Alexessander C AC; Amaral, Andre F S AFS; Antó, Josep M JM; Arnold, Andreas A; Barreto-Luis, Amalia A; Baurecht, Hansjörg H; van Beijsterveldt, Catharina E M CEM; Bleecker, Eugene R ER; Bonàs-Guarch, Sílvia S; Boomsma, Dorret I DI; Brix, Susanne S; Bunyavanich, Supinda S; Burchard, Esteban G EG; Chen, Zhanghua Z; Curjuric, Ivan I; Custovic, Adnan A; den Dekker, Herman T HT; Dharmage, Shyamali C SC; Dmitrieva, Julia J; Duijts, Liesbeth L; Ege, Markus J MJ; Gauderman, W James WJ; Georges, Michel M; Gieger, Christian C; Gilliland, Frank F; Granell, Raquel R; Gui, Hongsheng H; Hansen, Torben T; Heinrich, Joachim J; Henderson, John J; Hernandez-Pacheco, Natalia N; Holt, Patrick P; Imboden, Medea M; Jaddoe, Vincent W V VWV; Jarvelin, Marjo-Riitta MR; Jarvis, Deborah L DL; Jensen, Kamilla K KK; Jónsdóttir, Ingileif I; Kabesch, Michael M; Kaprio, Jaakko J; Kumar, Ashish A; Lee, Young-Ae YA; Levin, Albert M AM; Li, Xingnan X; Lorenzo-Diaz, Fabian F; Melén, Erik E; Mercader, Josep M JM; Meyers, Deborah A DA; Myers, Rachel R; Nicolae, Dan L DL; Nohr, Ellen A EA; Palviainen, Teemu T; Paternoster, Lavinia L; Pennell, Craig E CE; Pershagen, Göran G; Pino-Yanes, Maria M; Probst-Hensch, Nicole M NM; Rüschendorf, Franz F; Simpson, Angela A; Stefansson, Kari K; Sunyer, Jordi J; Sveinbjornsson, Gardar G; Thiering, Elisabeth E; Thompson, Philip J PJ; Torrent, Maties M; Torrents, David D; Tung, Joyce Y JY; Wang, Carol A CA; Weidinger, Stephan S; Weiss, Scott S; Willemsen, Gonneke G; Williams, L Keoki LK; Ober, Carole C; Hinds, David A DA; Ferreira, Manuel A MA; Bisgaard, Hans H; Strachan, David P DP; Bønnelykke, Klaus K
Publication Date: 2018-08

Variant appearance in text: rs7717955
PubMed Link: 30013184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Nature Genetics
Ferreira, Manuel A MA; Vonk, Judith M JM; Baurecht, Hansjörg H; Marenholz, Ingo I; Tian, Chao C; Hoffman, Joshua D JD; Helmer, Quinta Q; Tillander, Annika A; Ullemar, Vilhelmina V; van Dongen, Jenny J; Lu, Yi Y; Rüschendorf, Franz F; Esparza-Gordillo, Jorge J; Medway, Chris W CW; Mountjoy, Edward E; Burrows, Kimberley K; Hummel, Oliver O; Grosche, Sarah S; Brumpton, Ben M BM; Witte, John S JS; Hottenga, Jouke-Jan JJ; Willemsen, Gonneke G; Zheng, Jie J; Rodríguez, Elke E; Hotze, Melanie M; Franke, Andre A; Revez, Joana A JA; Beesley, Jonathan J; Matheson, Melanie C MC; Dharmage, Shyamali C SC; Bain, Lisa M LM; Fritsche, Lars G LG; Gabrielsen, Maiken E ME; Balliu, Brunilda B; , ; , ; , ; , ; Nielsen, Jonas B JB; Zhou, Wei W; Hveem, Kristian K; Langhammer, Arnulf A; Holmen, Oddgeir L OL; Løset, Mari M; Abecasis, Gonçalo R GR; Willer, Cristen J CJ; Arnold, Andreas A; Homuth, Georg G; Schmidt, Carsten O CO; Thompson, Philip J PJ; Martin, Nicholas G NG; Duffy, David L DL; Novak, Natalija N; Schulz, Holger H; Karrasch, Stefan S; Gieger, Christian C; Strauch, Konstantin K; Melles, Ronald B RB; Hinds, David A DA; Hübner, Norbert N; Weidinger, Stephan S; Magnusson, Patrik K E PKE; Jansen, Rick R; Jorgenson, Eric E; Lee, Young-Ae YA; Boomsma, Dorret I DI; Almqvist, Catarina C; Karlsson, Robert R; Koppelman, Gerard H GH; Paternoster, Lavinia L
Publication Date: 2017-12

Variant appearance in text: rs7717955
PubMed Link: 29083406
Variant Present in the following documents:
  • NIHMS74439-supplement-Supplementary_tables.xlsx, sheet 12
  • NIHMS74439-supplement-Supplementary_tables.xlsx, sheet 15
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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs7717955
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-5.pdf
View BVdb publication page



Associations between single nucleotide polymorphisms and haplotypes in cytokine and cytokine receptor genes and immunity to measles vaccination.

Vaccine
Haralambieva, Iana H IH; Ovsyannikova, Inna G IG; Kennedy, Richard B RB; Vierkant, Robert A RA; Pankratz, V Shane VS; Jacobson, Robert M RM; Poland, Gregory A GA
Publication Date: 2011-10-19

Variant appearance in text: rs7717955
PubMed Link: 21875636
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

Nature Genetics
Mells, George F GF; Floyd, James A B JA; Morley, Katherine I KI; Cordell, Heather J HJ; Franklin, Christopher S CS; Shin, So-Youn SY; Heneghan, Michael A MA; Neuberger, James M JM; Donaldson, Peter T PT; Day, Darren B DB; Ducker, Samantha J SJ; Muriithi, Agnes W AW; Wheater, Elizabeth F EF; Hammond, Christopher J CJ; Dawwas, Muhammad F MF; , ; , ; Jones, David E DE; Peltonen, Leena L; Alexander, Graeme J GJ; Sandford, Richard N RN; Anderson, Carl A CA
Publication Date: 2011-03-13

Variant appearance in text: rs7717955
PubMed Link: 21399635
Variant Present in the following documents:
  • NIHMS34438-supplement-1.pdf
View BVdb publication page