RAD50 c.3752+630C>G

Variant ID: 5-131977127-C-G

NM_005732.3(RAD50):c.3752+630C>G

This variant was identified in 12 publications

View GRCh38 version.




Publications:


In silico identification of single nucleotide variations at CpG sites regulating CpG island existence and size.

Scientific Reports
Shyamala, Nivas N; Kongettira, Chaitra Lava CL; Puranam, Kaushik K; Kupsal, Keerthi K; Kummari, Ramanjaneyulu R; Padala, Chiranjeevi C; Hanumanth, Surekha Rani SR
Publication Date: 2022-03-04

Variant appearance in text: rs2240032
PubMed Link: 35246549
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_5198.pdf
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The Predictive Role of Biomarkers and Genetics in Childhood Asthma Exacerbations.

International Journal Of Molecular Sciences
di Palmo, Emanuela E; Cantarelli, Erika E; Catelli, Arianna A; Ricci, Giampaolo G; Gallucci, Marcella M; Miniaci, Angela A; Pession, Andrea A
Publication Date: 2021-04-28

Variant appearance in text: rs2240032
PubMed Link: 33925009
Variant Present in the following documents:
  • Main text
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Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases.

International Journal Of Molecular Sciences
Tseng, Chia-Chun CC; Wong, Man-Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ
Publication Date: 2021-04-18

Variant appearance in text: rs2240032
PubMed Link: 33919522
Variant Present in the following documents:
  • Main text
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Network-assisted analysis of GWAS data identifies a functionally-relevant gene module for childhood-onset asthma.

Scientific Reports
Liu, Y Y; Brossard, M M; Sarnowski, C C; Vaysse, A A; Moffatt, M M; Margaritte-Jeannin, P P; Llinares-López, F F; Dizier, M H MH; Lathrop, M M; Cookson, W W; Bouzigon, E E; Demenais, F F
Publication Date: 2017-04-20

Variant appearance in text: rs2240032
PubMed Link: 28428554
Variant Present in the following documents:
  • 41598_2017_1058_MOESM1_ESM.pdf
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Association between genetic variants in DNA and histone methylation and telomere length.

Plos One
Kim, Sangmi S; Parks, Christine G CG; Xu, Zongli Z; Carswell, Gleta G; DeRoo, Lisa A LA; Sandler, Dale P DP; Taylor, Jack A JA
Publication Date: 2012

Variant appearance in text: rs2240032
PubMed Link: 22792358
Variant Present in the following documents:
  • Main text
  • pone.0040504.pdf
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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: rs2240032
PubMed Link: 20159242
Variant Present in the following documents:
  • Main text
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Overview of the Rapid Response data.

Genes And Immunity
Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,
Publication Date: 2009-12

Variant appearance in text: rs2240032
PubMed Link: 19956101
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria.

Malaria Journal
Naka, Izumi I; Nishida, Nao N; Patarapotikul, Jintana J; Nuchnoi, Pornlada P; Tokunaga, Katsushi K; Hananantachai, Hathairad H; Tsuchiya, Naoyuki N; Ohashi, Jun J
Publication Date: 2009-10-19

Variant appearance in text: rs2240032
PubMed Link: 19840389
Variant Present in the following documents:
  • Main text
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Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Sehl, Mary E ME; Langer, Lucy R LR; Papp, Jeanette C JC; Kwan, Lorna L; Seldon, Joyce L JL; Arellano, Geovanni G; Reiss, Jean J; Reed, Elaine F EF; Dandekar, Sugandha S; Korin, Yael Y; Sinsheimer, Janet S JS; Zhang, Zuo-Feng ZF; Ganz, Patricia A PA
Publication Date: 2009-03-15

Variant appearance in text: rs2240032
PubMed Link: 19276285
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: rs2240032
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: rs2240032
PubMed Link: 18614543
Variant Present in the following documents:
  • ddn196_1.pdf
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Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.

Bmc Cancer
Allen-Brady, Kristina K; Camp, Nicola J NJ
Publication Date: 2005-08-09

Variant appearance in text: rs2240032
PubMed Link: 16091150
Variant Present in the following documents:
  • Main text
  • 1471-2407-5-99.pdf
View BVdb publication page