RAD50 c.3475+285A>T

Variant ID: 5-131973177-A-T

NM_005732.3(RAD50):c.3475+285A>T

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Genotype imputation and polygenic score estimation in northwestern Russian population.

Plos One
Kolosov, Nikita N; Rezapova, Valeriia V; Rotar, Oxana O; Loboda, Alexander A; Freylikhman, Olga O; Melnik, Olesya O; Sergushichev, Alexey A; Stevens, Christine C; Voortman, Trudy T; Kostareva, Anna A; Konradi, Alexandra A; Daly, Mark J MJ; Artomov, Mykyta M
Publication Date: 2022

Variant appearance in text: rs2040704
PubMed Link: 35763490
Variant Present in the following documents:
  • pone.0269434.s001.pdf
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Pharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis.

Rheumatology International
Condreay, Lynn D LD; Parham, Laura R LR; Qu, Xiaoyan A XA; Steinfeld, Jonathan J; Wechsler, Michael E ME; Raby, Benjamin A BA; Yancey, Steven W SW; Ghosh, Soumitra S
Publication Date: 2020-08

Variant appearance in text: rs2040704
PubMed Link: 32009195
Variant Present in the following documents:
  • 296_2020_4523_MOESM1_ESM.pdf
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Genetic interactions between INPP4B and RAD50 is prognostic of breast cancer survival.

Bioscience Reports
Chen, Xiao X; Theobard, Rutaganda R; Zhang, Jianying J; Dai, Xiaofeng X
Publication Date: 2020-01-31

Variant appearance in text: rs2040704
PubMed Link: 31872854
Variant Present in the following documents:
  • Main text
  • bsr-40-bsr20192546.pdf
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Association of Genetic Polymorphisms with Atopic Dermatitis, Clinical Severity and Total IgE: A Replication and Extended Study.

Allergy, Asthma & Immunology Research
Kim, Jeong Hyun JH; Lee, So Yeon SY; Kang, Mi Jin MJ; Yoon, Jisun J; Jung, Sungsu S; Cho, Hyun Ju HJ; Kim, Hyo Bin HB; Hong, Soo Jong SJ
Publication Date: 2018-07

Variant appearance in text: rs2040704
PubMed Link: 29949836
Variant Present in the following documents:
  • Main text
  • aair-10-397.pdf
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Genetic and epigenetic studies of atopic dermatitis.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology
Bin, Lianghua L; Leung, Donald Y M DY
Publication Date: 2016

Variant appearance in text: rs2040704
PubMed Link: 27777593
Variant Present in the following documents:
  • Main text
View BVdb publication page



Maternal and child cytokine relationship in early life is not altered by cytokine gene polymorphisms.

Genes And Immunity
Djuardi, Y Y; Supali, T T; Wibowo, H H; Heijmans, B T BT; Deelen, J J; Slagboom, E P EP; Houwing-Duistermaat, J J JJ; Sartono, E E; Yazdanbakhsh, M M
Publication Date: 2016-12

Variant appearance in text: rs2040704
PubMed Link: 27581100
Variant Present in the following documents:
  • Main text
  • gene201635a.pdf
View BVdb publication page



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: rs2040704
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-6.pdf
View BVdb publication page



Combinations of genetic data in a study of oral cancer.

Genes & Cancer
Mellerup, Erling E; Moeller, Gert Lykke GL; Mondal, Pinaki P; Roychoudhury, Susanta S
Publication Date: 2015-09

Variant appearance in text: rs2040704
PubMed Link: 26622944
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of recalcitrant atopic dermatitis in Korean children.

The Journal Of Allergy And Clinical Immunology
Kim, Kyung Won KW; Myers, Rachel A RA; Lee, Ji Hyun JH; Igartua, Catherine C; Lee, Kyung Eun KE; Kim, Yoon Hee YH; Kim, Eun-Jin EJ; Yoon, Dankyu D; Lee, Joo-Shil JS; Hirota, Tomomitsu T; Tamari, Mayumi M; Takahashi, Atsushi A; Kubo, Michiaki M; Choi, Je-Min JM; Kim, Kyu-Earn KE; Nicolae, Dan L DL; Ober, Carole C; Sohn, Myung Hyun MH
Publication Date: 2015-09

Variant appearance in text: rs2040704
PubMed Link: 25935106
Variant Present in the following documents:
  • Main text
View BVdb publication page



A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.

The Journal Of Allergy And Clinical Immunology
Levin, Albert M AM; Mathias, Rasika A RA; Huang, Lili L; Roth, Lindsey A LA; Daley, Denise D; Myers, Rachel A RA; Himes, Blanca E BE; Romieu, Isabelle I; Yang, Mao M; Eng, Celeste C; Park, Julie E JE; Zoratti, Karla K; Gignoux, Christopher R CR; Torgerson, Dara G DG; Galanter, Joshua M JM; Huntsman, Scott S; Nguyen, Elizabeth A EA; Becker, Allan B AB; Chan-Yeung, Moira M; Kozyrskyj, Anita L AL; Kwok, Pui-Yan PY; Gilliland, Frank D FD; Gauderman, W James WJ; Bleecker, Eugene R ER; Raby, Benjamin A BA; Meyers, Deborah A DA; London, Stephanie J SJ; Martinez, Fernando D FD; Weiss, Scott T ST; Burchard, Esteban G EG; Nicolae, Dan L DL; Ober, Carole C; Barnes, Kathleen C KC; Williams, L Keoki LK
Publication Date: 2013-04

Variant appearance in text: rs2040704
PubMed Link: 23146381
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

Nature Genetics
Torgerson, Dara G DG; Ampleford, Elizabeth J EJ; Chiu, Grace Y GY; Gauderman, W James WJ; Gignoux, Christopher R CR; Graves, Penelope E PE; Himes, Blanca E BE; Levin, Albert M AM; Mathias, Rasika A RA; Hancock, Dana B DB; Baurley, James W JW; Eng, Celeste C; Stern, Debra A DA; Celedón, Juan C JC; Rafaels, Nicholas N; Capurso, Daniel D; Conti, David V DV; Roth, Lindsey A LA; Soto-Quiros, Manuel M; Togias, Alkis A; Li, Xingnan X; Myers, Rachel A RA; Romieu, Isabelle I; Van Den Berg, David J DJ; Hu, Donglei D; Hansel, Nadia N NN; Hernandez, Ryan D RD; Israel, Elliott E; Salam, Muhammad T MT; Galanter, Joshua J; Avila, Pedro C PC; Avila, Lydiana L; Rodriquez-Santana, Jose R JR; Chapela, Rocio R; Rodriguez-Cintron, William W; Diette, Gregory B GB; Adkinson, N Franklin NF; Abel, Rebekah A RA; Ross, Kevin D KD; Shi, Min M; Faruque, Mezbah U MU; Dunston, Georgia M GM; Watson, Harold R HR; Mantese, Vito J VJ; Ezurum, Serpil C SC; Liang, Liming L; Ruczinski, Ingo I; Ford, Jean G JG; Huntsman, Scott S; Chung, Kian Fan KF; Vora, Hita H; Li, Xia X; Calhoun, William J WJ; Castro, Mario M; Sienra-Monge, Juan J JJ; del Rio-Navarro, Blanca B; Deichmann, Klaus A KA; Heinzmann, Andrea A; Wenzel, Sally E SE; Busse, William W WW; Gern, James E JE; Lemanske, Robert F RF; Beaty, Terri H TH; Bleecker, Eugene R ER; Raby, Benjamin A BA; Meyers, Deborah A DA; London, Stephanie J SJ; , ; Gilliland, Frank D FD; , ; Burchard, Esteban G EG; , ; Martinez, Fernando D FD; , ; Weiss, Scott T ST; , ; Williams, L Keoki LK; , ; Barnes, Kathleen C KC; , ; Ober, Carole C; Nicolae, Dan L DL
Publication Date: 2011-07-31

Variant appearance in text: rs2040704
PubMed Link: 21804549
Variant Present in the following documents:
  • NIHMS304749-supplement-1.pdf
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Allergy and glioma risk: test of association by genotype.

International Journal Of Cancer
Dobbins, Sara E SE; Hosking, Fay J FJ; Shete, Sanjay S; Armstrong, Georgina G; Swerdlow, Anthony A; Liu, Yanhong Y; Yu, Robert R; Lau, Ching C; Schoemaker, Minouk J MJ; Hepworth, Sarah J SJ; Muir, Kenneth K; Bondy, Melissa M; Houlston, Richard S RS
Publication Date: 2011-04-01

Variant appearance in text: rs2040704
PubMed Link: 20503266
Variant Present in the following documents:
  • Main text
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Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.

The Journal Of Allergy And Clinical Immunology
Li, Xingnan X; Howard, Timothy D TD; Zheng, Siqun L SL; Haselkorn, Tmirah T; Peters, Stephen P SP; Meyers, Deborah A DA; Bleecker, Eugene R ER
Publication Date: 2010-02

Variant appearance in text: rs2040704
PubMed Link: 20159242
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.

Plos Genetics
Weidinger, Stephan S; Gieger, Christian C; Rodriguez, Elke E; Baurecht, Hansjörg H; Mempel, Martin M; Klopp, Norman N; Gohlke, Henning H; Wagenpfeil, Stefan S; Ollert, Markus M; Ring, Johannes J; Behrendt, Heidrun H; Heinrich, Joachim J; Novak, Natalija N; Bieber, Thomas T; Krämer, Ursula U; Berdel, Dietrich D; von Berg, Andrea A; Bauer, Carl Peter CP; Herbarth, Olf O; Koletzko, Sibylle S; Prokisch, Holger H; Mehta, Divya D; Meitinger, Thomas T; Depner, Martin M; von Mutius, Erika E; Liang, Liming L; Moffatt, Miriam M; Cookson, William W; Kabesch, Michael M; Wichmann, H-Erich HE; Illig, Thomas T
Publication Date: 2008-08

Variant appearance in text: rs2040704
PubMed Link: 18846228
Variant Present in the following documents:
  • Main text
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The 5q31 variants associated with psoriasis and Crohn's disease are distinct.

Human Molecular Genetics
Li, Yonghong Y; Chang, Monica M; Schrodi, Steven J SJ; Callis-Duffin, Kristina P KP; Matsunami, Nori N; Civello, Daniel D; Bui, Nam N; Catanese, Joseph J JJ; Leppert, Mark F MF; Krueger, Gerald G GG; Begovich, Ann B AB
Publication Date: 2008-10-01

Variant appearance in text: rs2040704
PubMed Link: 18614543
Variant Present in the following documents:
  • ddn196_1.pdf
View BVdb publication page