ATG16L1 c.708-1202A>G

Variant ID: 2-234180410-A-G

NM_030803.6(ATG16L1):c.708-1202A>G

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Intravesical BCG in patients with non-muscle invasive bladder cancer induces trained immunity and decreases respiratory infections.

Journal For Immunotherapy Of Cancer
van Puffelen, Jelmer H JH; Novakovic, Boris B; van Emst, Liesbeth L; Kooper, Denise D; Zuiverloon, Tahlita C M TCM; Oldenhof, Ursula T H UTH; Witjes, J Alfred JA; Galesloot, Tessel E TE; Vrieling, Alina A; Aben, Katja K H KKH; Kiemeney, Lambertus A L M LALM; Oosterwijk, Egbert E; Netea, Mihai G MG; Boormans, Joost L JL; van der Heijden, Antoine G AG; Joosten, Leo A B LAB; Vermeulen, Sita H SH
Publication Date: 2023-01

Variant appearance in text: rs3828309
PubMed Link: 36693678
Variant Present in the following documents:
  • Main text
  • jitc-2022-005518.pdf
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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: rs3828309
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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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: rs3828309
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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Fuzzy set-based generalized multifactor dimensionality reduction analysis of gene-gene interactions.

Bmc Medical Genomics
Jung, Hye-Young HY; Leem, Sangseob S; Park, Taesung T
Publication Date: 2018-04-20

Variant appearance in text: rs3828309
PubMed Link: 29697366
Variant Present in the following documents:
  • Main text
View BVdb publication page



Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.

Scientific Reports
Tsui, Nancy B Y NBY; Cheng, Gregory G; Chung, Teresa T; Lam, Christopher W K CWK; Yee, Anita A; Chung, Peter K C PKC; Kwan, Tsz-Ki TK; Ko, Elaine E; He, Daihai D; Wong, Wing-Tak WT; Lau, Johnson Y N JYN; Lau, Lok Ting LT; Fok, Manson M
Publication Date: 2018-01-30

Variant appearance in text: rs3828309
PubMed Link: 29382849
Variant Present in the following documents:
  • 41598_2017_19017_MOESM1_ESM.pdf
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Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13

Variant appearance in text: rs3828309
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
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An empirical fuzzy multifactor dimensionality reduction method for detecting gene-gene interactions.

Bmc Genomics
Leem, Sangseob S; Park, Taesung T
Publication Date: 2017-03-14

Variant appearance in text: rs3828309
PubMed Link: 28361694
Variant Present in the following documents:
  • Main text
  • 12864_2017_Article_3496.pdf
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Bridge: a GUI package for genetic risk prediction.

Bmc Genetics
Ye, Chengyin C; Lu, Qing Q
Publication Date: 2013-12-20

Variant appearance in text: rs3828309
PubMed Link: 24359333
Variant Present in the following documents:
  • Main text
  • 1471-2156-14-122.pdf
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PTGER4 expression-modulating polymorphisms in the 5p13.1 region predispose to Crohn's disease and affect NF-κB and XBP1 binding sites.

Plos One
Glas, Jürgen J; Seiderer, Julia J; Czamara, Darina D; Pasciuto, Giulia G; Diegelmann, Julia J; Wetzke, Martin M; Olszak, Torsten T; Wolf, Christiane C; Müller-Myhsok, Bertram B; Balschun, Tobias T; Achkar, Jean-Paul JP; Kamboh, M Ilyas MI; Franke, Andre A; Duerr, Richard H RH; Brand, Stephan S
Publication Date: 2012

Variant appearance in text: rs3828309
PubMed Link: 23300802
Variant Present in the following documents:
  • Main text
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Investigation of genetic risk factors for chronic adult diseases for association with preterm birth.

Human Genetics
Falah, Nadia N; McElroy, Jude J; Snegovskikh, Victoria V; Lockwood, Charles J CJ; Norwitz, Errol E; Murray, Jeffey C JC; Kuczynski, Edward E; Menon, Ramkumar R; Teramo, Kari K; Muglia, Louis J LJ; Morgan, Thomas T
Publication Date: 2013-01

Variant appearance in text: rs3828309
PubMed Link: 22972380
Variant Present in the following documents:
  • Main text
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Sex-specific differences in effect size estimates at established complex trait loci.

International Journal Of Epidemiology
Orozco, Gisela G; Ioannidis, John P A JP; Morris, Andrew A; Zeggini, Eleftheria E; ,
Publication Date: 2012-10

Variant appearance in text: rs3828309
PubMed Link: 22825589
Variant Present in the following documents:
View BVdb publication page



Prevalence of genetic variants associated with inflammatory bowel disease in a healthy First Nations cohort.

Cmaj : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
Murdoch, Travis B TB; Bernstein, Charles N CN; El-Gabalawy, Hani H; Stempak, Joanne M JM; Sargent, Michael M; Elias, Brenda B; Xu, Wei W; Pathan, Saad S; Silverberg, Mark S MS
Publication Date: 2012-05-15

Variant appearance in text: rs3828309
PubMed Link: 22496383
Variant Present in the following documents:
  • Main text
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Distinct and overlapping genetic loci in Crohn's disease and ulcerative colitis: correlations with pathogenesis.

Inflammatory Bowel Diseases
Waterman, Matti M; Xu, Wei W; Stempak, Joanne M JM; Milgrom, Raquel R; Bernstein, Charles N CN; Griffiths, Anne M AM; Greenberg, Gordon R GR; Steinhart, A Hillary AH; Silverberg, Mark S MS
Publication Date: 2011-09

Variant appearance in text: rs3828309
PubMed Link: 21830272
Variant Present in the following documents:
  • Main text
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Genetic susceptibility to inflammation and colonic transit in lower functional gastrointestinal disorders: preliminary analysis.

Neurogastroenterology And Motility : The Official Journal Of The European Gastrointestinal Motility Society
Camilleri, M M; Carlson, P P; McKinzie, S S; Zucchelli, M M; D'Amato, M M; Busciglio, I I; Burton, D D; Zinsmeister, A R AR
Publication Date: 2011-10

Variant appearance in text: rs3828309
PubMed Link: 21752155
Variant Present in the following documents:
  • Main text
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Transmission distortion in Crohn's disease risk gene ATG16L1 leads to sex difference in disease association.

Inflammatory Bowel Diseases
Liu, Linda Y LY; Schaub, Marc A MA; Sirota, Marina M; Butte, Atul J AJ
Publication Date: 2012-02

Variant appearance in text: rs3828309
PubMed Link: 21618365
Variant Present in the following documents:
  • Main text
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An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

Plos One
Juyal, Garima G; Prasad, Pushplata P; Senapati, Sabyasachi S; Midha, Vandana V; Sood, Ajit A; Amre, Devendra D; Juyal, Ramesh C RC; BK, Thelma T
Publication Date: 2011-01-31

Variant appearance in text: rs3828309
PubMed Link: 21304977
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synthetic associations in the context of genome-wide association scan signals.

Human Molecular Genetics
Orozco, Gisela G; Barrett, Jeffrey C JC; Zeggini, Eleftheria E
Publication Date: 2010-10-15

Variant appearance in text: rs3828309
PubMed Link: 20805105
Variant Present in the following documents:
  • Main text
  • ddq368.pdf
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Replication and meta-analysis of 13,000 cases defines the risk for interleukin-23 receptor and autophagy-related 16-like 1 variants in Crohn's disease.

Canadian Journal Of Gastroenterology = Journal Canadien De Gastroenterologie
Cotterill, Lynn L; Payne, Debbie D; Levinson, Scott S; McLaughlin, John J; Wesley, Emma E; Feeney, Mark M; Durbin, Hilary H; Lal, Simon S; Makin, Alistair A; Campbell, Simon S; Roberts, Stephen A SA; O'Neill, Catherine C; Edwards, Cathryn C; Newman, William G WG
Publication Date: 2010-05

Variant appearance in text: rs3828309
PubMed Link: 20485703
Variant Present in the following documents:
  • Main text
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Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

Nature Genetics
McGovern, Dermot P B DP; Gardet, Agnès A; Törkvist, Leif L; Goyette, Philippe P; Essers, Jonah J; Taylor, Kent D KD; Neale, Benjamin M BM; Ong, Rick T H RT; Lagacé, Caroline C; Li, Chun C; Green, Todd T; Stevens, Christine R CR; Beauchamp, Claudine C; Fleshner, Phillip R PR; Carlson, Marie M; D'Amato, Mauro M; Halfvarson, Jonas J; Hibberd, Martin L ML; Lördal, Mikael M; Padyukov, Leonid L; Andriulli, Angelo A; Colombo, Elisabetta E; Latiano, Anna A; Palmieri, Orazio O; Bernard, Edmond-Jean EJ; Deslandres, Colette C; Hommes, Daan W DW; de Jong, Dirk J DJ; Stokkers, Pieter C PC; Weersma, Rinse K RK; , ; Sharma, Yashoda Y; Silverberg, Mark S MS; Cho, Judy H JH; Wu, Jing J; Roeder, Kathryn K; Brant, Steven R SR; Schumm, L Phillip LP; Duerr, Richard H RH; Dubinsky, Marla C MC; Glazer, Nicole L NL; Haritunians, Talin T; Ippoliti, Andy A; Melmed, Gil Y GY; Siscovick, David S DS; Vasiliauskas, Eric A EA; Targan, Stephan R SR; Annese, Vito V; Wijmenga, Cisca C; Pettersson, Sven S; Rotter, Jerome I JI; Xavier, Ramnik J RJ; Daly, Mark J MJ; Rioux, John D JD; Seielstad, Mark M
Publication Date: 2010-04

Variant appearance in text: rs3828309
PubMed Link: 20228799
Variant Present in the following documents:
  • Main text
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Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.

Plos Genetics
Raychaudhuri, Soumya S; Plenge, Robert M RM; Rossin, Elizabeth J EJ; Ng, Aylwin C Y AC; , ; Purcell, Shaun M SM; Sklar, Pamela P; Scolnick, Edward M EM; Xavier, Ramnik J RJ; Altshuler, David D; Daly, Mark J MJ
Publication Date: 2009-06

Variant appearance in text: rs3828309
PubMed Link: 19557189
Variant Present in the following documents:
  • Main text
  • pgen.1000534.pdf
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Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

Nature Genetics
Barrett, Jeffrey C JC; Hansoul, Sarah S; Nicolae, Dan L DL; Cho, Judy H JH; Duerr, Richard H RH; Rioux, John D JD; Brant, Steven R SR; Silverberg, Mark S MS; Taylor, Kent D KD; Barmada, M Michael MM; Bitton, Alain A; Dassopoulos, Themistocles T; Datta, Lisa Wu LW; Green, Todd T; Griffiths, Anne M AM; Kistner, Emily O EO; Murtha, Michael T MT; Regueiro, Miguel D MD; Rotter, Jerome I JI; Schumm, L Philip LP; Steinhart, A Hillary AH; Targan, Stephan R SR; Xavier, Ramnik J RJ; , ; Libioulle, Cécile C; Sandor, Cynthia C; Lathrop, Mark M; Belaiche, Jacques J; Dewit, Olivier O; Gut, Ivo I; Heath, Simon S; Laukens, Debby D; Mni, Myriam M; Rutgeerts, Paul P; Van Gossum, André A; Zelenika, Diana D; Franchimont, Denis D; Hugot, Jean-Pierre JP; de Vos, Martine M; Vermeire, Severine S; Louis, Edouard E; , ; , ; Cardon, Lon R LR; Anderson, Carl A CA; Drummond, Hazel H; Nimmo, Elaine E; Ahmad, Tariq T; Prescott, Natalie J NJ; Onnie, Clive M CM; Fisher, Sheila A SA; Marchini, Jonathan J; Ghori, Jilur J; Bumpstead, Suzannah S; Gwilliam, Rhian R; Tremelling, Mark M; Deloukas, Panos P; Mansfield, John J; Jewell, Derek D; Satsangi, Jack J; Mathew, Christopher G CG; Parkes, Miles M; Georges, Michel M; Daly, Mark J MJ
Publication Date: 2008-08

Variant appearance in text: rs3828309
PubMed Link: 18587394
Variant Present in the following documents:
  • Main text
View BVdb publication page