Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10500264
rs10500264
0.820 GeneticVariation BEFREE One SNP (rs4986791 in the TLR-4 locus) and 2 SNPs (rs6785049 in the Pregnane-x-receptor gene and rs10500264 in the SLCA10 gene) were associated with a change in albumin and hemoglobin over time respectively in our IBD cohort. 30423580

2019

dbSNP: rs10500264
rs10500264
0.820 GeneticVariation BEFREE We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)). 19915574

2009

dbSNP: rs2076756
rs2076756
0.820 GeneticVariation BEFREE The sibling with pouchitis inherited the IBD-associated risk alleles for NOD2 (rs17221417 and rs2076756) from his healthy father. 28633443

2017

dbSNP: rs2076756
rs2076756
0.820 GeneticVariation BEFREE The aims were to analyze two novel NOD2 variants (rs2066843 and rs2076756) in a large cohort of patients with inflammatory bowel disease and to elucidate phenotypic consequences. 21209938

2010

dbSNP: rs6871626
rs6871626
0.820 GeneticVariation BEFREE IL12B rs6871626 did not show an association with IBD-TA compared with that with TA without IBD. 28449344

2017

dbSNP: rs6871626
rs6871626
0.820 GeneticVariation BEFREE Here, we conducted a multiple-stage genetic association study of 133 IBD susceptibility loci in multiple leprosy samples (totaling 4,971 leprosy cases and 5,503 controls) from a Chinese population and discovered two associations at rs2058660 on 2q12.1 (p = 4.57 × 10(-19); odds ratio [OR] = 1.30) and rs6871626 on 5q33.3 (p = 3.95 × 10(-18); OR = 0.75), implicating IL18RAP/IL18R1 and IL12B as susceptibility genes for leprosy. 23103228

2012

dbSNP: rs10758669
rs10758669
0.810 GeneticVariation BEFREE Macrophages from controls and ulcerative colitis patients carrying the IBD-risk rs10758669 CC genotype showed increased JAK2 expression and nucleotide-binding oligomerization domain 2-induced JAK2 phosphorylation relative to AA carriers. 27664279

2016

dbSNP: rs1250550
rs1250550
0.810 GeneticVariation BEFREE We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)). 19915574

2009

dbSNP: rs1893217
rs1893217
0.810 GeneticVariation BEFREE We investigated associations of PTPN2 SNP rs1893217 and clinical characteristics of inflammatory bowel disease (IBD) patients. 26928573

2016

dbSNP: rs2382817
rs2382817
0.810 GeneticVariation BEFREE Intriguingly this susceptibility single-nucleotide polymorphism (SNP) is in strong linkage disequilibrium (r<sup>2</sup> = 0.90, D' = 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD). 27005424

2016

dbSNP: rs2412973
rs2412973
0.810 GeneticVariation BEFREE We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)). 19915574

2009

dbSNP: rs3024505
rs3024505
0.810 GeneticVariation BEFREE In conclusion, rs3024505 SNP flanking the IL10 gene is associated with susceptibility and severity of disease in Serbian CD patients, further validating its role as a potential biomarker in IBD. 27558476

2016

dbSNP: rs7134599
rs7134599
0.810 GeneticVariation BEFREE The significance of these results is amplified by studies suggesting that a single nucleotide polymorphism in IFNG-AS1, rs7134599, was associated with both subtypes of IBD patients independently of race. 31545920

2020

dbSNP: rs7554511
rs7554511
0.810 GeneticVariation BEFREE Altered functions for the IBD risk locus containing rs7554511, which encompasses the C1orf106 gene (recently named INAVA), and roles for the protein encoded by the INAVA gene are unknown. 28436939

2017

dbSNP: rs8005161
rs8005161
0.810 GeneticVariation BEFREE The T allele of rs8005161 might confer a more severe disease course in IBD patients. 30616622

2019

dbSNP: rs8049439
rs8049439
0.810 GeneticVariation BEFREE We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)). 19915574

2009

dbSNP: rs917997
rs917997
0.810 GeneticVariation BEFREE Joint analysis of 1851 IBD patients (1062 CD, 789 UC) and 1936 controls demonstrated strong association to the IL18RAP rs917997 SNP for both CD and UC (p(IBD) 1.9 x 10(-8); OR 1.35). 18439550

2008

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: rs2066844
rs2066844
0.790 GeneticVariation BEFREE R702W gene mutation was significantly lower in the inflammatory bowel disease group (1.5%) than the controls (4.8%) (P < 0.05). 17978873

2008

dbSNP: rs2066844
rs2066844
0.790 GeneticVariation BEFREE Mutations in Nod2 (1007FS, R702W, G908R) impinge on NOD2 functions and are associated with the pathogenesis of Crohn disease, a chronic inflammatory bowel disease. 17355968

2007

dbSNP: rs2066844
rs2066844
0.790 GeneticVariation BEFREE Ileal samples were prospectively collected from 18 nonsmoking CD patients not treated with anti-TNF-α biologics and 9 nonsmoking control patients without inflammatory bowel disease undergoing initial resection and genotyped for the 3 major NOD2 risk alleles (Arg702Trp, Gly908Arg, Leu1007fs). 20155851

2010

dbSNP: rs2066844
rs2066844
0.790 GeneticVariation BEFREE A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268)Ser, Arg(702)Trp, Gly(908)Arg, and Leu(1007)fsinsC) was performed in 229 cases of primary AS with no diagnosed inflammatory bowel disease (IBD), 197 cases of AS associated with IBD (referred to as colitic spondylarthritis; comprising 78 with CD and 119 with ulcerative colitis [UC]), and 229 ethnically matched, healthy controls. 12115195

2002

dbSNP: rs2066844
rs2066844
0.790 GeneticVariation BEFREE Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G908R, and 1007fs in Finnish inflammatory bowel disease (IBD) patients and to search for possible associations between CARD15 variants and occurrence of familial forms of IBD or complicated forms of CD. 12631669

2003

dbSNP: rs2066844
rs2066844
0.790 GeneticVariation BEFREE Three polymorphisms in this gene (Arg702Trp rs2066844, Gly908Arg rs2066845 and Leu1007fsinsC rs5743293) have been associated with increased risk of the inflammatory bowel disease, the Crohn's disease. 20412372

2010

dbSNP: rs2066844
rs2066844
0.790 GeneticVariation BEFREE Two cohorts of consecutively identified patients referred to an inflammatory bowel disease center (n = 142 collected between 1993 and 1996; n = 59 collected between 1999 and 2001) were genotyped for 3 single nucleotide variants of NOD2-R675W, G881R, and 3020insC-and phenotyped for disease behavior, disease location, and serum immune markers. 12198692

2002