BSN c.11736G>A ;(p.T3912=)

Variant ID: 3-49701983-G-A

NM_003458.3(BSN):c.11736G>A;(p.T3912=)

This variant was identified in 46 publications

View GRCh38 version.




Publications:


Association between Taxonomic Composition of Gut Microbiota and Host Single Nucleotide Polymorphisms in Crohn's Disease Patients from Russia.

International Journal Of Molecular Sciences
Markelova, Maria M; Senina, Anastasia A; Khusnutdinova, Dilyara D; Siniagina, Maria M; Kupriyanova, Elena E; Shakirova, Gulnaz G; Odintsova, Alfiya A; Abdulkhakov, Rustam R; Kolesnikova, Irina I; Shagaleeva, Olga O; Lyamina, Svetlana S; Abdulkhakov, Sayar S; Zakharzhevskaya, Natalia N; Grigoryeva, Tatiana T
Publication Date: 2023-04-28

Variant appearance in text: rs9858542
PubMed Link: 37175705
Variant Present in the following documents:
  • Main text
  • ijms-24-07998.pdf
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: BSN: 11736G>A; Thr3912=; rs9858542
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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: rs9858542
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: BSN: T3912T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: BSN: T3912T; rs9858542
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.

The British Journal Of Dermatology
Calbet-Llopart, Neus N; Combalia, Marc M; Kiroglu, Anil A; Potrony, Miriam M; Tell-Martí, Gemma G; Combalia, Andrea A; Brugues, Albert A; Podlipnik, Sebastian S; Carrera, Cristina C; Puig, Susana S; Malvehy, Josep J; Puig-Butillé, Joan Anton JA
Publication Date: 2022-11

Variant appearance in text: rs9858542
PubMed Link: 35701387
Variant Present in the following documents:
  • Main text
  • BJD-187-753.pdf
View BVdb publication page



Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Publication Date: 2021-09

Variant appearance in text: BSN: T3912T
PubMed Link: 34239129
Variant Present in the following documents:
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 6
View BVdb publication page



Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Publication Date: 2021-09

Variant appearance in text: BSN: T3912T
PubMed Link: 34239129
Variant Present in the following documents:
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 6
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: BSN: 11736G>A; T3912T; rs9858542
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Genome-Wide Association Study Data Reveal Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductal Adenocarcinoma Risk.

Cancer Research
Yuan, Fangcheng F; Hung, Rayjean J RJ; Walsh, Naomi N; Zhang, Han H; Platz, Elizabeth A EA; Wheeler, William W; Song, Lei L; Arslan, Alan A AA; Beane Freeman, Laura E LE; Bracci, Paige P; Canzian, Federico F; Du, Mengmeng M; Gallinger, Steven S; Giles, Graham G GG; Goodman, Phyllis J PJ; Kooperberg, Charles C; Le Marchand, Loic L; Neale, Rachel E RE; Rosendahl, Jonas J; Scelo, Ghislaine G; Shu, Xiao-Ou XO; Visvanathan, Kala K; White, Emily E; Zheng, Wei W; Albanes, Demetrius D; Amiano, Pilar P; Andreotti, Gabriella G; Babic, Ana A; Bamlet, William R WR; Berndt, Sonja I SI; Brennan, Paul P; Bueno-de-Mesquita, Bas B; Buring, Julie E JE; Campbell, Peter T PT; Chanock, Stephen J SJ; Fuchs, Charles S CS; Gaziano, J Michael JM; Goggins, Michael G MG; Hackert, Thilo T; Hartge, Patricia P; Hassan, Manal M MM; Holly, Elizabeth A EA; Hoover, Robert N RN; Katzke, Verena V; Kirsten, Holger H; Kurtz, Robert C RC; Lee, I-Min IM; Malats, Nuria N; Milne, Roger L RL; Murphy, Neil N; Ng, Kimmie K; Oberg, Ann L AL; Porta, Miquel M; Rabe, Kari G KG; Real, Francisco X FX; Rothman, Nathaniel N; Sesso, Howard D HD; Silverman, Debra T DT; Thompson, Ian M IM; Wactawski-Wende, Jean J; Wang, Xiaoliang X; Wentzensen, Nicolas N; Wilkens, Lynne R LR; Yu, Herbert H; Zeleniuch-Jacquotte, Anne A; Shi, Jianxin J; Duell, Eric J EJ; Amundadottir, Laufey T LT; Li, Donghui D; Petersen, Gloria M GM; Wolpin, Brian M BM; Risch, Harvey A HA; Yu, Kai K; Klein, Alison P AP; Stolzenberg-Solomon, Rachael R
Publication Date: 2020-09-15

Variant appearance in text: rs9858542
PubMed Link: 32641412
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs9858542
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Assessing the performance of genome-wide association studies for predicting disease risk.

Plos One
Patron, Jonas J; Serra-Cayuela, Arnau A; Han, Beomsoo B; Li, Carin C; Wishart, David Scott DS
Publication Date: 2019

Variant appearance in text: rs9858542
PubMed Link: 31805043
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: BSN: T3912T; rs9858542
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: BSN: 11736G>A; T3912T; rs9858542
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 6
View BVdb publication page



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: rs9858542
PubMed Link: 29697366
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: BSN: T3912T; rs9858542
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



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: rs9858542
PubMed Link: 28361694
Variant Present in the following documents:
  • Main text
View BVdb publication page



Crohn's Disease Localization Displays Different Predisposing Genetic Variants.

Plos One
Palmieri, Orazio O; Bossa, Fabrizio F; Valvano, Maria Rosa MR; Corritore, Giuseppe G; Latiano, Tiziana T; Martino, Giuseppina G; D'Incà, Renata R; Cucchiara, Salvatore S; Pastore, Maria M; D'Altilia, Mario M; Scimeca, Daniela D; Biscaglia, Giuseppe G; Andriulli, Angelo A; Latiano, Anna A
Publication Date: 2017

Variant appearance in text: rs9858542
PubMed Link: 28052082
Variant Present in the following documents:
  • Main text
  • pone.0168821.pdf
View BVdb publication page



Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.

Scientific Reports
Li, Xue X; Song, Peige P; Timofeeva, Maria M; Meng, Xiangrui X; Rudan, Igor I; Little, Julian J; Satsangi, Jack J; Campbell, Harry H; Theodoratou, Evropi E
Publication Date: 2016-09-27

Variant appearance in text: rs9858542
PubMed Link: 27670835
Variant Present in the following documents:
  • Main text
  • srep34076.pdf
  • srep34076-s1.pdf
View BVdb publication page



Assessing statistical significance in multivariable genome wide association analysis.

Bioinformatics (Oxford, England)
Buzdugan, Laura L; Kalisch, Markus M; Navarro, Arcadi A; Schunk, Daniel D; Fehr, Ernst E; Bühlmann, Peter P
Publication Date: 2016-07-01

Variant appearance in text: rs9858542
PubMed Link: 27153677
Variant Present in the following documents:
  • Main text
  • btw128.pdf
View BVdb publication page



Accounting for selection and correlation in the analysis of two-stage genome-wide association studies.

Biostatistics (Oxford, England)
Robertson, David S DS; Prevost, A Toby AT; Bowden, Jack J
Publication Date: 2016-10

Variant appearance in text: rs9858542
PubMed Link: 26993061
Variant Present in the following documents:
  • Main text
  • kxw012.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: BSN: T3912T; rs9858542
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci.

Bmc Genomics
Hulur, Imge I; Gamazon, Eric R ER; Skol, Andrew D AD; Xicola, Rosa M RM; Llor, Xavier X; Onel, Kenan K; Ellis, Nathan A NA; Kupfer, Sonia S SS
Publication Date: 2015-02-27

Variant appearance in text: rs9858542
PubMed Link: 25766683
Variant Present in the following documents:
  • Main text
  • 12864_2015_Article_1292.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: BSN: T3912T; rs9858542
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



An analysis of genetic factors related to risk of inflammatory bowel disease and colon cancer.

Cancer Epidemiology
Ryan, Bríd M BM; Wolff, Roger K RK; Valeri, Nicola N; Khan, Mohammed M; Robinson, Dillon D; Paone, Alessio A; Bowman, Elise D ED; Lundgreen, Abbie A; Caan, Bette B; Potter, John J; Brown, Derek D; Croce, Carlo C; Slattery, Martha L ML; Harris, Curtis C CC
Publication Date: 2014-10

Variant appearance in text: rs9858542
PubMed Link: 25132422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic comorbidities in Parkinson's disease.

Human Molecular Genetics
Nalls, Mike A MA; Saad, Mohamad M; Noyce, Alastair J AJ; Keller, Margaux F MF; Schrag, Anette A; Bestwick, Jonathan P JP; Traynor, Bryan J BJ; Gibbs, J Raphael JR; Hernandez, Dena G DG; Cookson, Mark R MR; Morris, Huw R HR; Williams, Nigel N; Gasser, Thomas T; Heutink, Peter P; Wood, Nick N; Hardy, John J; Martinez, Maria M; Singleton, Andrew B AB; , ; , ; , ; ,
Publication Date: 2014-02-01

Variant appearance in text: rs9858542
PubMed Link: 24057672
Variant Present in the following documents:
  • Main text
View BVdb publication page



A knowledge-based method for association studies on complex diseases.

Plos One
Nazarian, Alireza A; Sichtig, Heike H; Riva, Alberto A
Publication Date: 2012

Variant appearance in text: rs9858542
PubMed Link: 22970175
Variant Present in the following documents:
  • pone.0044162.s015.pdf
View BVdb publication page



A general framework for two-stage analysis of genome-wide association studies and its application to case-control studies.

American Journal Of Human Genetics
Wason, James M S JM; Dudbridge, Frank F
Publication Date: 2012-05-04

Variant appearance in text: rs9858542
PubMed Link: 22560088
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDGIdb: a database of gene interactions inferred from long-range strong linkage disequilibrium between pairs of SNPs.

Bmc Research Notes
Wang, Ming-Chih MC; Chen, Feng-Chi FC; Chen, Yen-Zho YZ; Huang, Yao-Ting YT; Chuang, Trees-Juen TJ
Publication Date: 2012-05-02

Variant appearance in text: rs9858542
PubMed Link: 22551073
Variant Present in the following documents:
  • Main text
  • 1756-0500-5-212.pdf
View BVdb publication page



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: rs9858542
PubMed Link: 21830272
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs9858542
PubMed Link: 21618365
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of genetics in IBS.

Gastroenterology Clinics Of North America
Saito, Yuri A YA
Publication Date: 2011-03

Variant appearance in text: rs9858542
PubMed Link: 21333900
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presymptomatic risk assessment for chronic non-communicable diseases.

Plos One
Padhukasahasram, Badri B; Halperin, Eran E; Wessel, Jennifer J; Thomas, Daryl J DJ; Silver, Elana E; Trumbower, Heather H; Cargill, Michele M; Stephan, Dietrich A DA
Publication Date: 2010-12-31

Variant appearance in text: rs9858542
PubMed Link: 21217814
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort.

Plos One
Wagner, Josef J; Sim, Winnie H WH; Ellis, Justine A JA; Ong, Eng K EK; Catto-Smith, Anthony G AG; Cameron, Donald J S DJ; Bishop, Ruth F RF; Kirkwood, Carl D CD
Publication Date: 2010-11-08

Variant appearance in text: BSN: Thr3912Thr; rs9858542
PubMed Link: 21079743
Variant Present in the following documents:
  • Main text
  • pone.0015376.pdf
View BVdb publication page



Colitis locus on chromosome 2 impacting the severity of early-onset disease in mice deficient in GPX1 and GPX2.

Inflammatory Bowel Diseases
Esworthy, R Steven RS; Kim, Byung-Wook BW; Larson, Garrett P GP; Yip, M L Richard ML; Smith, David D DD; Li, Min M; Chu, Fong-Fong FF
Publication Date: 2011-06

Variant appearance in text: BSN: Thr3912Thr; rs9858542
PubMed Link: 20872835
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.

Annals Of Human Genetics
Lee, Jessica J JJ; Essers, Jonah B JB; Kugathasan, Subra S; Escher, Johanna C JC; Lettre, Guillaume G; Butler, Johannah L JL; Stephens, Michael C MC; Ramoni, Marco F MF; Grand, Richard J RJ; Hirschhorn, Joel J
Publication Date: 2010-11

Variant appearance in text: rs9858542
PubMed Link: 20846217
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide searching of rare genetic variants in WTCCC data.

Human Genetics
Feng, Tao T; Zhu, Xiaofeng X
Publication Date: 2010-09

Variant appearance in text: rs9858542
PubMed Link: 20549515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.

Plos Genetics
Nica, Alexandra C AC; Montgomery, Stephen B SB; Dimas, Antigone S AS; Stranger, Barbara E BE; Beazley, Claude C; Barroso, Inês I; Dermitzakis, Emmanouil T ET
Publication Date: 2010-04-01

Variant appearance in text: rs9858542
PubMed Link: 20369022
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.

Genetic Epidemiology
Bowden, Jack J; Dudbridge, Frank F
Publication Date: 2009-07

Variant appearance in text: rs9858542
PubMed Link: 19140132
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis.

Mucosal Immunology
Goyette, P P; Lefebvre, C C; Ng, A A; Brant, S R SR; Cho, J H JH; Duerr, R H RH; Silverberg, M S MS; Taylor, K D KD; Latiano, A A; Aumais, G G; Deslandres, C C; Jobin, G G; Annese, V V; Daly, M J MJ; Xavier, R J RJ; Rioux, J D JD
Publication Date: 2008-03

Variant appearance in text: rs9858542
PubMed Link: 19079170
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

Diabetologia
Rafiq, S S; Melzer, D D; Weedon, M N MN; Lango, H H; Saxena, R R; Scott, L J LJ; , ; Palmer, C N A CN; Morris, A D AD; McCarthy, M I MI; Ferrucci, L L; Hattersley, A T AT; Zeggini, E E; Frayling, T M TM
Publication Date: 2008-12

Variant appearance in text: rs9858542
PubMed Link: 18853133
Variant Present in the following documents:
  • Main text
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Worldwide population differentiation at disease-associated SNPs.

Bmc Medical Genomics
Myles, Sean S; Davison, Dan D; Barrett, Jeffrey J; Stoneking, Mark M; Timpson, Nic N
Publication Date: 2008-06-04

Variant appearance in text: rs9858542
PubMed Link: 18533027
Variant Present in the following documents:
  • Main text
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Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.

Nature Genetics
Fisher, Sheila A SA; Tremelling, Mark M; Anderson, Carl A CA; Gwilliam, Rhian R; Bumpstead, Suzannah S; Prescott, Natalie J NJ; Nimmo, Elaine R ER; Massey, Dunecan D; Berzuini, Carlo C; Johnson, Christopher C; Barrett, Jeffrey C JC; Cummings, Fraser R FR; Drummond, Hazel H; Lees, Charlie W CW; Onnie, Clive M CM; Hanson, Catherine E CE; Blaszczyk, Katarzyna K; Inouye, Mike M; Ewels, Philip P; Ravindrarajah, Radhi R; Keniry, Andrew A; Hunt, Sarah S; Carter, Martyn M; Watkins, Nick N; Ouwehand, Willem W; Lewis, Cathryn M CM; Cardon, Lon L; , ; Lobo, Alan A; Forbes, Alastair A; Sanderson, Jeremy J; Jewell, Derek P DP; Mansfield, John C JC; Deloukas, Panos P; Mathew, Christopher G CG; Parkes, Miles M; Satsangi, Jack J
Publication Date: 2008-06

Variant appearance in text: rs9858542
PubMed Link: 18438406
Variant Present in the following documents:
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Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

European Journal Of Clinical Pharmacology
Brockmöller, Jürgen J; Tzvetkov, Mladen V MV
Publication Date: 2008-02

Variant appearance in text: rs9858542
PubMed Link: 18224312
Variant Present in the following documents:
  • Main text
  • 228_2007_Article_424.pdf
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Common pathways in Crohn's disease and other inflammatory diseases revealed by genomics.

Gut
Massey, Dunecan D; Parkes, Miles M
Publication Date: 2007-11

Variant appearance in text: rs9858542
PubMed Link: 17639087
Variant Present in the following documents:
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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

Nature
,
Publication Date: 2007-06-07

Variant appearance in text: rs9858542
PubMed Link: 17554300
Variant Present in the following documents:
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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

Nature Genetics
Parkes, Miles M; Barrett, Jeffrey C JC; Prescott, Natalie J NJ; Tremelling, Mark M; Anderson, Carl A CA; Fisher, Sheila A SA; Roberts, Roland G RG; Nimmo, Elaine R ER; Cummings, Fraser R FR; Soars, Dianne D; Drummond, Hazel H; Lees, Charlie W CW; Khawaja, Saud A SA; Bagnall, Richard R; Burke, Denis A DA; Todhunter, Catherine E CE; Ahmad, Tariq T; Onnie, Clive M CM; McArdle, Wendy W; Strachan, David D; Bethel, Graeme G; Bryan, Claire C; Lewis, Cathryn M CM; Deloukas, Panos P; Forbes, Alastair A; Sanderson, Jeremy J; Jewell, Derek P DP; Satsangi, Jack J; Mansfield, John C JC; , ; Cardon, Lon L; Mathew, Christopher G CG
Publication Date: 2007-07

Variant appearance in text: rs9858542
PubMed Link: 17554261
Variant Present in the following documents:
  • Main text
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