Variant ID: 16-50739582-C-G

NM_022162.1(NOD2):c.541-2184C>G

This variant was identified in 24 publications




Publications:


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

Plos One
J Patron, A Serra-Cayuela, B Han, C Li, DS Wishart
Publication Date: 2019

Variant appearance in text: rs17221417
PMID: 31805043
View BVdb publication page



Fuzzy set-based generalized multifactor dimensionality reduction analysis of gene-gene interactions.

Bmc Medical Genomics
HY Jung, S Leem, T Park
Publication Date: 2018-04-20

Variant appearance in text: rs17221417
PMID: 29697366
View BVdb publication page



NOD2 Genetic Variants Predispose One of Two Familial Adenomatous Polyposis Siblings to Pouchitis Through Microbiome Dysbiosis.

Journal Of Crohn'S & Colitis
KM Schieffer, JR Wright, LR Harris, S Deiling, Z Yang, R Lamendella, GS Yochum, WA Koltun
Publication Date: 2017-10-27

Variant appearance in text: rs17221417
PMID: 28633443
View BVdb publication page



An empirical fuzzy multifactor dimensionality reduction method for detecting gene-gene interactions.

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

Variant appearance in text: rs17221417
PMID: 28361694
View BVdb publication page



Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.

Clinical And Translational Gastroenterology
AF Di Narzo, LA Peters, C Argmann, A Stojmirovic, J Perrigoue, K Li, S Telesco, B Kidd, J Walker, J Dudley, J Cho, EE Schadt, A Kasarskis, M Curran, R Dobrin, K Hao
Publication Date: 2016-06-23

Variant appearance in text: rs17221417
PMID: 27336838
View BVdb publication page



Distinct Gene Regulatory Pathways for Human Innate versus Adaptive Lymphoid Cells.

Cell
OI Koues, PL Collins, M Cella, ML Robinette, SI Porter, SC Pyfrom, JE Payton, M Colonna, EM Oltz
Publication Date: 2016-05-19

Variant appearance in text: rs17221417
PMID: 27156452
View BVdb publication page



Assessing statistical significance in multivariable genome wide association analysis.

Bioinformatics (Oxford, England)
L Buzdugan, M Kalisch, A Navarro, D Schunk, E Fehr, P Bühlmann
Publication Date: 2016-07-01

Variant appearance in text: rs17221417
PMID: 27153677
View BVdb publication page



Integrated enrichment analysis of variants and pathways in genome-wide association studies indicates central role for IL-2 signaling genes in type 1 diabetes, and cytokine signaling genes in Crohn's disease.

Plos Genetics
P Carbonetto, M Stephens
Publication Date: 2013

Variant appearance in text: rs17221417
PMID: 24098138
View BVdb publication page



Leveraging prior information to detect causal variants via multi-variant regression.

Plos Computational Biology
N Long, SP Dickson, JM Maia, HS Kim, Q Zhu, AS Allen
Publication Date: 2013

Variant appearance in text: rs17221417
PMID: 23762022
View BVdb publication page



Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium.

American Journal Of Human Genetics
Q Zhu, D Ge, EL Heinzen, SP Dickson, TJ Urban, M Zhu, JM Maia, M He, Q Zhao, KV Shianna, DB Goldstein
Publication Date: 2012-09-07

Variant appearance in text: rs17221417
PMID: 22939045
View BVdb publication page



Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.

Journal Of Biomedicine & Biotechnology
JJ Connolly, H Hakonarson
Publication Date: 2012

Variant appearance in text: rs17221417
PMID: 22654485
View BVdb publication page



Transmission distortion in Crohn's disease risk gene ATG16L1 leads to sex difference in disease association.

Inflammatory Bowel Diseases
LY Liu, MA Schaub, M Sirota, AJ Butte
Publication Date: 2012-02

Variant appearance in text: rs17221417
PMID: 21618365
View BVdb publication page



Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

Bmc Medical Genetics
I Peter, AA Mitchell, L Ozelius, M Erazo, J Hu, D Doheny, MT Abreu, DH Present, T Ullman, K Benkov, BI Korelitz, L Mayer, RJ Desnick,
Publication Date: 2011-05-06

Variant appearance in text: rs17221417
PMID: 21548950
View BVdb publication page



Presymptomatic risk assessment for chronic non-communicable diseases.

Plos One
B Padhukasahasram, E Halperin, J Wessel, DJ Thomas, E Silver, H Trumbower, M Cargill, DA Stephan
Publication Date: 2010-12-31

Variant appearance in text: rs17221417
PMID: 21217814
View BVdb publication page



Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: rs17221417
PMID: 20876667
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
JJ Lee, JB Essers, S Kugathasan, JC Escher, G Lettre, JL Butler, MC Stephens, MF Ramoni, RJ Grand, J Hirschhorn
Publication Date: 2010-11

Variant appearance in text: rs17221417
PMID: 20846217
View BVdb publication page



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

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

Variant appearance in text: rs17221417
PMID: 20549515
View BVdb publication page



Interpretation of association signals and identification of causal variants from genome-wide association studies.

American Journal Of Human Genetics
K Wang, SP Dickson, CA Stolle, ID Krantz, DB Goldstein, H Hakonarson
Publication Date: 2010-05-14

Variant appearance in text: rs17221417
PMID: 20434130
View BVdb publication page



Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record.

American Journal Of Human Genetics
MD Ritchie, JC Denny, DC Crawford, AH Ramirez, JB Weiner, JM Pulley, MA Basford, K Brown-Gentry, JR Balser, DR Masys, JL Haines, DM Roden
Publication Date: 2010-04-09

Variant appearance in text: rs17221417
PMID: 20362271
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
S Rafiq, D Melzer, MN Weedon, H Lango, R Saxena, LJ Scott, , CN Palmer, AD Morris, MI McCarthy, L Ferrucci, AT Hattersley, E Zeggini, TM Frayling
Publication Date: 2008-12

Variant appearance in text: rs17221417
PMID: 18853133
View BVdb publication page



Individual disease risk and multimetric analysis of Crohn disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
J Gibson, A Collins, N Morton
Publication Date: 2008-10-14

Variant appearance in text: rs17221417
PMID: 18843111
View BVdb publication page



The 'common disease-common variant' hypothesis and familial risks.

Plos One
K Hemminki, A Försti, JL Bermejo
Publication Date: 2008-06-18

Variant appearance in text: rs17221417
PMID: 18560565
View BVdb publication page



Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

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

Variant appearance in text: rs17221417
PMID: 18224312
View BVdb publication page



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: rs17221417
PMID: 17554300
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000300589.2 c.541-2184C>G - intron_variant - 2/11
ENST00000526417.2 n.528-2184C>G - intron_variant,non_coding_transcript_variant - 2/4
ENST00000527070.1 c.*1156-2184C>G - intron_variant,NMD_transcript_variant - 2/3
ENST00000532206.1 n.645-4887C>G - intron_variant,non_coding_transcript_variant - 2/2
NM_001293557.2 c.460-2184C>G - intron_variant - 1/10
NM_001370466.1 c.460-2184C>G - intron_variant - 2/11
NM_022162.3 c.541-2184C>G - intron_variant - 2/11
NR_163434.1 n.525-2184C>G - intron_variant,non_coding_transcript_variant - 2/12