Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8057341
rs8057341
0.700 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789

2007

dbSNP: rs8056611
rs8056611
0.700 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789

2007

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. 18680223

2008

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE The Asp299Gly and Thr399Ile variants do not show an association with CD, UC, or IBD as a group, indicating that these polymorphisms are likely not the causal ones. 15905704

2005

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE D299G and T399I were related to CD only in patients carrying NOD2 variants (NOD2+/TLR4+ haplotype) (p=0.036; OR=1.924), increasing the risk to develop CD when 1007insC and TLR4 variants were both present (OR=4.886). 27290609

2016

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE We have reported on a novel association of the TLR4 Asp299Gly polymorphism with both CD and UC. 15194649

2004

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE This is underscored by the finding of the association between CARD15 variants and Crohn's disease (CD) and D299G in Toll-like receptor (TLR) 4 and IBD. 16374251

2006

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE 90 patients with CD and 80 healthy individuals are genotyped for the Asp299Gly and Thr399Ile polymorphisms by restriction fragment length polymorphism analysis. 19664207

2009

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE Polymorphisms of NOD2 (R702W, G908R and L1007fs) and TLR4 (Asp299Gly and Thr399Ile) genes were analyzed in 106 patients with IBD (68 with ulcerative colitis [UC], 38 with Crohn's disease [CD]) and 160 healthy controls using polymerase chain reaction-restriction fragment length polymorphism. 29055077

2017

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE The TLR4 Asp299Gly polymorphism is a risk factor for CD. 15973118

2005

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE In a geographic area in Southern Italy with high incidence of CD we investigated IP (lactulose/mannitol testing) together with the three main mutations of the NOD2/CARD15 and the D299G polymorphism of the toll-like receptor (TLR)-4 gene in 23 families of CD patients (patients and first-degree relatives). 16393227

2005

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE In further exploring the genetic background of these diseases, we investigated the variations in the CARD15/NOD2 gene (Arg702Trp, Gly908Arg and Leu1007fsinsC), and polymorphisms in the TLR4 gene (Asp299Gly and Thr399Ile) as well as in the promoter of the CD14 gene (T/C at position -159) in Greek patients with CD and UC. 15655821

2005

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE In this two-center, retrospective German and Hungarian cohort study, patients with Crohn's disease (CD) (n = 379; German n = 235, Hungarian n = 144) and ulcerative colitis (UC) (n = 263; German n = 145, Hungarian n = 118) and healthy controls (n = 605; German n = 403, Hungarian n = 202) were genotyped for the presence of the CD14 c.1-260C>T promoter variant and the TLR4 c.896A>G (p.D299G) variant by melting curve analysis using fluorescence resonance energy transfer probes. 18174680

2007

dbSNP: rs771184127
rs771184127
0.100 GeneticVariation BEFREE Novel NOD2 haplotype strengthens the association between TLR4 Asp299gly and Crohn's disease in an Australian population. 18213697

2008

dbSNP: rs758548184
rs758548184
0.010 GeneticVariation BEFREE In all subjects, just one band of 151 bp, corresponding to wild-type N852S, was found, and no other N852S mutant bands (151+129+22 and 129+22 bp) were detected using PCR-RFLP fragment electrophoresis.The CTLA-4 gene +49 A/G polymorphism and the NOD2/CARD15 gene N852S polymorphism were not associated with CD or UC in a Turkish population. 30213296

2018

dbSNP: rs751271
rs751271
0.700 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789

2007

dbSNP: rs749910
rs749910
0.700 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789

2007

dbSNP: rs747581406
rs747581406
0.010 GeneticVariation BEFREE The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) in TLR9, the main CD-associated variants within the genes for NOD2, IL23R, ATG16L1, and variants in the IBD5 locus and in the DLG5 gene were assessed in 956 patients with IBD (606 CD and 350 ulcerative colitis) and in 792 healthy controls. 19455129

2009

dbSNP: rs72796367
rs72796367
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs72796353
rs72796353
0.010 GeneticVariation BEFREE In contrast to the strong associations of the NOD2 SNPs rs2066844 (p=3.51 x 10(-3)), rs2066845 (p=1.54 x 10(-2)), and rs2066847 (p=1.61 x 10(-20)) with CD susceptibility, no significant association of rs72796353 with CD or UC susceptibility was found. 26147989

2015

dbSNP: rs62029861
rs62029861
0.710 GeneticVariation BEFREE Using this approach, eight novel amino acid substitutions [c.1171C>T (p.R391C), c.1387C>G (p.P463A), c.2138G>A (p.R713H), c.2278C>T (p.R760C), c.2368C>T (p.R790W), c.2371C>T (p.R791W), c.2475C>G (p.N825K), and c.2546C>T (p.A849V)] were detected in six CD and two IC patients, and one UC patient. 16485124

2006

dbSNP: rs62029861
rs62029861
0.710 GeneticVariation UNIPROT

dbSNP: rs61747625
rs61747625
0.700 GeneticVariation UNIPROT Characterization and Genetic Analyses of New Genes Coding for NOD2 Interacting Proteins. 27812135

2016

dbSNP: rs61747625
rs61747625
0.700 GeneticVariation UNIPROT Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 15024686

2004

dbSNP: rs61747625
rs61747625
0.700 GeneticVariation UNIPROT Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease. 16485124

2006