ATM c.5674+1518T>A

Variant ID: 11-108177097-T-A

NM_000051.3(ATM):c.5674+1518T>A

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Association between three common genetic polymorphisms of ATM and the risk of schizophrenia.

Excli Journal
Abbasi, Elham E; Saadat, Mostafa M
Publication Date: 2021

Variant appearance in text: rs611646
PubMed Link: 34650388
Variant Present in the following documents:
  • Main text
  • EXCLI-20-1363.pdf
View BVdb publication page



Polygenic basis and biomedical consequences of telomere length variation.

Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Publication Date: 2021-10

Variant appearance in text: rs611646
PubMed Link: 34611362
Variant Present in the following documents:
  • 41588_2021_944_MOESM3_ESM.pdf
View BVdb publication page



Polygenic basis and biomedical consequences of telomere length variation.

Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Publication Date: 2021-10

Variant appearance in text: rs611646
PubMed Link: 34611362
Variant Present in the following documents:
  • 41588_2021_944_MOESM3_ESM.pdf
View BVdb publication page



Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.

American Journal Of Human Genetics
Li, Chen C; Stoma, Svetlana S; Lotta, Luca A LA; Warner, Sophie S; Albrecht, Eva E; Allione, Alessandra A; Arp, Pascal P PP; Broer, Linda L; Buxton, Jessica L JL; Da Silva Couto Alves, Alexessander A; Deelen, Joris J; Fedko, Iryna O IO; Gordon, Scott D SD; Jiang, Tao T; Karlsson, Robert R; Kerrison, Nicola N; Loe, Taylor K TK; Mangino, Massimo M; Milaneschi, Yuri Y; Miraglio, Benjamin B; Pervjakova, Natalia N; Russo, Alessia A; Surakka, Ida I; van der Spek, Ashley A; Verhoeven, Josine E JE; Amin, Najaf N; Beekman, Marian M; Blakemore, Alexandra I AI; Canzian, Federico F; Hamby, Stephen E SE; Hottenga, Jouke-Jan JJ; Jones, Peter D PD; Jousilahti, Pekka P; Mägi, Reedik R; Medland, Sarah E SE; Montgomery, Grant W GW; Nyholt, Dale R DR; Perola, Markus M; Pietiläinen, Kirsi H KH; Salomaa, Veikko V; Sillanpää, Elina E; Suchiman, H Eka HE; van Heemst, Diana D; Willemsen, Gonneke G; Agudo, Antonio A; Boeing, Heiner H; Boomsma, Dorret I DI; Chirlaque, Maria-Dolores MD; Fagherazzi, Guy G; Ferrari, Pietro P; Franks, Paul P; Gieger, Christian C; Eriksson, Johan Gunnar JG; Gunter, Marc M; Hägg, Sara S; Hovatta, Iiris I; Imaz, Liher L; Kaprio, Jaakko J; Kaaks, Rudolf R; Key, Timothy T; Krogh, Vittorio V; Martin, Nicholas G NG; Melander, Olle O; Metspalu, Andres A; Moreno, Concha C; Onland-Moret, N Charlotte NC; Nilsson, Peter P; Ong, Ken K KK; Overvad, Kim K; Palli, Domenico D; Panico, Salvatore S; Pedersen, Nancy L NL; Penninx, Brenda W J H BWJH; Quirós, J Ramón JR; Jarvelin, Marjo Riitta MR; Rodríguez-Barranco, Miguel M; Scott, Robert A RA; Severi, Gianluca G; Slagboom, P Eline PE; Spector, Tim D TD; Tjonneland, Anne A; Trichopoulou, Antonia A; Tumino, Rosario R; Uitterlinden, André G AG; van der Schouw, Yvonne T YT; van Duijn, Cornelia M CM; Weiderpass, Elisabete E; Denchi, Eros Lazzerini EL; Matullo, Giuseppe G; Butterworth, Adam S AS; Danesh, John J; Samani, Nilesh J NJ; Wareham, Nicholas J NJ; Nelson, Christopher P CP; Langenberg, Claudia C; Codd, Veryan V
Publication Date: 2020-03-05

Variant appearance in text: rs611646
PubMed Link: 32109421
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
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Two synchronous malignancies: nodular melanoma and renal cell carcinoma in a patient with an underlying germline BRCA2 mutation.

Bmj Case Reports
Snow, Anson A; Ricker, Charite C; In, Gino K GK
Publication Date: 2019-06-20

Variant appearance in text: rs611646
PubMed Link: 31227566
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs611646
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Germline genetic variants in somatically significantly mutated genes in tumors are associated with renal cell carcinoma risk and outcome.

Carcinogenesis
Shu, Xiang X; Gu, Jianchun J; Huang, Maosheng M; Tannir, Nizar M NM; Matin, Surena F SF; Karam, Jose A JA; Wood, Christopher G CG; Wu, Xifeng X; Ye, Yuanqing Y
Publication Date: 2018-05-28

Variant appearance in text: rs611646
PubMed Link: 29635281
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proinflammatory genotype is associated with the frailty phenotype in the English Longitudinal Study of Ageing.

Aging Clinical And Experimental Research
Mekli, Krisztina K; Nazroo, James Y JY; Marshall, Alan D AD; Kumari, Meena M; Pendleton, Neil N
Publication Date: 2016-06

Variant appearance in text: rs611646
PubMed Link: 26248682
Variant Present in the following documents:
  • Main text
  • 40520_2015_Article_419.pdf
View BVdb publication page



Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma.

Plos One
Rendleman, Justin J; Antipin, Yevgeniy Y; Reva, Boris B; Adaniel, Christina C; Przybylo, Jennifer A JA; Dutra-Clarke, Ana A; Hansen, Nichole N; Heguy, Adriana A; Huberman, Kety K; Borsu, Laetitia L; Paltiel, Ora O; Ben-Yehuda, Dina D; Brown, Jennifer R JR; Freedman, Arnold S AS; Sander, Chris C; Zelenetz, Andrew A; Klein, Robert J RJ; Shao, Yongzhao Y; Lacher, Mortimer M; Vijai, Joseph J; Offit, Kenneth K; Kirchhoff, Tomas T
Publication Date: 2014

Variant appearance in text: rs611646
PubMed Link: 25010664
Variant Present in the following documents:
  • Main text
  • pone.0101685.pdf
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Hereditary breast cancer in the Han Chinese population.

Journal Of Epidemiology
Cao, Wenming W; Wang, Xiaojia X; Li, Ji-Cheng JC
Publication Date: 2013

Variant appearance in text: rs611646
PubMed Link: 23318652
Variant Present in the following documents:
  • Main text
  • je-23-075.pdf
View BVdb publication page



ATM sequence variants associate with susceptibility to non-small cell lung cancer.

International Journal Of Cancer
Yang, Hushan H; Spitz, Margaret R MR; Stewart, David J DJ; Lu, Charles C; Gorlov, Ivan P IP; Wu, Xifeng X
Publication Date: 2007-11-15

Variant appearance in text: rs611646
PubMed Link: 17582598
Variant Present in the following documents:
  • Main text
View BVdb publication page