Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57749775
rs57749775
0.010 GeneticVariation BEFREE Our data indicate that both keratin 8 mutations, G62C and Y54H, do not play a relevant pathogenic role in inflammatory bowel disease. 15248378

2004

dbSNP: rs2066844
rs2066844
0.790 GeneticVariation BEFREE Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease. 15967635

2005

dbSNP: rs1248696
rs1248696
0.100 GeneticVariation BEFREE We present here a study of the genetic variation described in that report in two well-powered, independent case-control cohorts and one family-based collection, and confirm the proposed association between IBD and the R30Q variant of DLG5 in two of the three studies. 15841097

2005

dbSNP: rs2066845
rs2066845
0.100 GeneticVariation BEFREE Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease. 15967635

2005

dbSNP: rs4986791
rs4986791
0.080 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: rs1217691063
rs1217691063
0.050 GeneticVariation BEFREE Hyperhomocysteinemia and methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations in patients with inflammatory bowel disease. 16262529

2005

dbSNP: rs2476601
rs2476601
0.050 GeneticVariation BEFREE These results indicate that the PTPN22 1858C-->T polymorphism does not appear to play a major role in IBD predisposition in our population. 16185327

2005

dbSNP: rs397507444
rs397507444
0.020 GeneticVariation BEFREE Hyperhomocysteinemia and methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations in patients with inflammatory bowel disease. 16262529

2005

dbSNP: rs11209026
rs11209026
A 0.900 GeneticVariation GWASDB A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. 17068223

2006

dbSNP: rs2076756
rs2076756
0.820 GeneticVariation GWASDB A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. 17068223

2006

dbSNP: rs2076756
rs2076756
0.820 GeneticVariation GWASCAT A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. 17068223

2006

dbSNP: rs7517847
rs7517847
C 0.720 GeneticVariation GWASDB A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. 17068223

2006

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE A meta-analysis was carried out of our results and those from 8 previously published association studies of the C3435T variant in inflammatory bowel disease. 16633048

2006

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE In this study we have undertaken a meta-analysis of the available findings obtained with two SNPs polymorphism (C3435T and G2677T/A) in IBD; a significant association of 3435T allele and 3435TT genotype has been found with UC (OR = 1.17, P = 0.003 and OR = 1.36, P = 0.017, respectively). 16773678

2006

dbSNP: rs1248696
rs1248696
0.100 GeneticVariation BEFREE We assess the frequency of the CARD15 SNPs and of the R30Q mutation in DLG5 and their contribution to the development of CD in a cohort of unrelated IBD patients (151 CD, 325 ulcerative colitis (UC)) and healthy controls (236) from South-east Norway (IBSEN cohort). 16493449

2006

dbSNP: rs1248696
rs1248696
0.100 GeneticVariation BEFREE The frequency of the R30Q variant allele was not significantly different in IBD (22.0%), CD (20.8%), and UC (27.6%) patients compared with healthy control subjects (28.0%). 16670524

2006

dbSNP: rs2066845
rs2066845
0.100 GeneticVariation BEFREE To investigate the distribution of CARD15/NOD2 (Arg702Trp, Gly908Arg and Leu1007fsinsC) and TLR4 (Asp299Gly) polymorphisms in Chilean patients with IBD.Methods. 16840031

2006

dbSNP: rs4986790
rs4986790
0.100 GeneticVariation BEFREE To investigate the distribution of CARD15/NOD2 (Arg702Trp, Gly908Arg and Leu1007fsinsC) and TLR4 (Asp299Gly) polymorphisms in Chilean patients with IBD.Methods. 16840031

2006

dbSNP: rs5498
rs5498
0.060 GeneticVariation BEFREE In the second approach, we typed four nonsynonymous polymorphisms in genes C3 (R102G and L314P) and ICAM1 (G241R and K469E) in four independent cohorts totaling 2178 IBD cases. 16570073

2006

dbSNP: rs5498
rs5498
0.060 GeneticVariation BEFREE The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W, G908R, and 3020insC), NOD1/CARD4 (E266K, D372N), and ICAM-1 (G241R, K469E) genes, which are known to be associated with inflammation, in Turkish patients with inflammatory bowel disease and healthy control groups. 16741608

2006

dbSNP: rs771184127
rs771184127
0.060 GeneticVariation BEFREE To investigate the distribution of CARD15/NOD2 (Arg702Trp, Gly908Arg and Leu1007fsinsC) and TLR4 (Asp299Gly) polymorphisms in Chilean patients with IBD.Methods. 16840031

2006

dbSNP: rs771184127
rs771184127
0.060 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: rs1050152
rs1050152
0.040 GeneticVariation BEFREE To determine whether the TC haplotype is also associated with IBD in a Japanese population, we genotyped L503F and -207G/C variants in Japanese subjects. 16373276

2006

dbSNP: rs2032582
rs2032582
0.040 GeneticVariation BEFREE In this study we have undertaken a meta-analysis of the available findings obtained with two SNPs polymorphism (C3435T and G2677T/A) in IBD; a significant association of 3435T allele and 3435TT genotype has been found with UC (OR = 1.17, P = 0.003 and OR = 1.36, P = 0.017, respectively). 16773678

2006

dbSNP: rs1545620
rs1545620
0.030 GeneticVariation BEFREE Common variation in MYO9B was associated with susceptibility to inflammatory bowel disease in all 3 cohorts examined (most associated SNP, rs1545620; meta-analysis P = 1.9 x 10(-6); odds ratio, 1.2), with the same alleles showing association as reported for celiac disease. 17087940

2006