PedAM
Pediatric Disease Annotations & Medicines
| irritable bowel disease | ||||
| Disease ID | 1079 |
|---|---|
| Disease | irritable bowel disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1079 |
|---|---|
| Disease | irritable bowel disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:340) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1000141 | 17068223 | 6295 | SAG | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | SAG | 2 | 233333701 | C | T |
| rs1022590 | 17068223 | 7443 | VRK1 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 14 | 97094613 | C | T |
| rs1042058 | 23128233 | 1326 | MAP3K8 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | MAP3K8 | 10 | 30439172 | T | C |
| rs1045642 | 24449364 | 5243 | ABCB1 | umls:C0021390 | BeFree | MDR1 C3435T polymorphism and inflammatory bowel disease risk: a meta-analysis. | 0.021616999 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 22661185 | 5243 | ABCB1 | umls:C0021390 | BeFree | C3435T polymorphism of the ABCB1/MDR1 gene encoding P-glycoprotein in patients with inflammatory bowel disease in a Polish population. | 0.021616999 | 2012 | ABCB1 | 7 | 87509329 | A | T,G |
| rs10491434 | 24911414 | 60498 | IGAN1 | umls:C0021390 | BeFree | These four variants are implicated in complex phenotypes such as ulcerative colitis and AIDS progression disease (rs10491434), Celiac disease (rs2762051), Crohn's disease, IgA nephropathy and early-onset inflammatory bowel disease (rs713875) and height (rs6569648). | 0.000271442 | 2014 | IL7R | 5 | 35877812 | A | G |
| rs10495903 | 23128233 | 63892 | THADA | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | THADA | 2 | 43579779 | C | T |
| rs10500264 | 19915574 | 53342 | IL17D | umls:C0021390 | 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)). | 0.002985861 | 2009 | NA | 19 | 33259408 | G | A |
| rs10500264 | 19915574 | 56301 | SLC7A10 | umls:C0021390 | GAD | [Common variants at five new loci associated with early-onset inflammatory bowel disease.] | 0.002367032 | 2009 | NA | 19 | 33259408 | G | A |
| rs1050152 | 21122496 | 6583 | SLC22A4 | umls:C0021390 | BeFree | OCTN1 variant L503F is associated with familial and sporadic inflammatory bowel disease. | 0.141169923 | 2010 | SLC22A4;LOC553103 | 5 | 132340627 | C | T |
| rs10758669 | 22065112 | 345611 | IRGM | umls:C0021390 | BeFree | We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958847, rs11747270 and rs13361189 within IRGM) in adult German inflammatory bowel disease patients (CD, n = 464; ulcerative colitis (UC), n = 292) and matched healthy controls (n = 508). | 0.13272543 | 2012 | NA | 9 | 4981602 | C | A |
| rs10781499 | 23128233 | 64170 | CARD9 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.241085767 | 2012 | CARD9 | 9 | 136371953 | G | A |
| rs10870077 | 18439550 | 64170 | CARD9 | umls:C0021390 | BeFree | In addition, an association of the CARD9 rs10870077 SNP to CD and UC was observed (p(IBD) = 3.25 x 10(-5); OR 1.21). | 0.241085767 | 2008 | CARD9 | 9 | 136369439 | C | G |
| rs10896794 | 23128233 | 9404 | LPXN | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | LPXN | 11 | 58571651 | T | C |
| rs10914850 | 17068223 | 114784 | CSMD2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | CSMD2 | 1 | 34030493 | T | C |
| rs10951982 | 21684284 | 6035 | RNASE1 | umls:C0021390 | BeFree | Patients with inflammatory bowel disease who had the rs10951982 risk allele had increased expression of RAC1 compared to those without this allele. | 0.000542884 | 2011 | RAC1 | 7 | 6382925 | G | A |
| rs11168249 | 23128233 | 51564 | HDAC7 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | HDAC7 | 12 | 47814585 | T | C |
| rs11190140 | 21803625 | 159296 | NKX2-3 | umls:C0021390 | BeFree | NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT. | 0.006905599 | 2011 | NKX2-3;LINC01475 | 10 | 99531836 | T | C |
| rs11209026 | 19877036 | 149233 | IL23R | umls:C0021390 | BeFree | This may result from the fact that rs11209026, the nonsynonymous SNP in IL23R, is not polymorphic in Chinese patients, providing further evidence that rs11209026 is the key polymorphism associated with AS (and likely inflammatory bowel disease and psoriasis) in this gene. | 0.340104897 | 2009 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 17894849 | 55054 | ATG16L1 | umls:C0021390 | BeFree | IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease. | 0.173188927 | 2007 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 25666505 | 149233 | IL23R | umls:C0021390 | BeFree | Variants of IL23R gene were investigated for association with many diseases like chronic inflammatory disorders, RA, inflammatory bowel diseases and the susceptibility to the development of gastric cancer but no data are available concerning the association of IL23R gene (rs11209026) polymorphism with HCC development in HCV patients. | 0.340104897 | 2015 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 17309073 | 149233 | IL23R | umls:C0021390 | BeFree | The IL-23R allele was negatively associated with inflammatory bowel disease (IBD): the R381Q SNP was undertransmitted in children with IBD (8 transmitted [T] versus 27 untransmitted [UT]; P = 0.001). | 0.340104897 | 2007 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 17877509 | 149233 | IL23R | umls:C0021390 | BeFree | A recent study reported that a non-synonymous single nucleotide polymorphism (rs11209026, p.Arg381Gln) located in the IL23R gene is a protective marker for inflammatory bowel disease. | 0.340104897 | 2007 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 17894849 | 64127 | NOD2 | umls:C0021390 | BeFree | rs11209026 and rs2241880 genotype distributions were examined both within IBD clinical subphenotypes and CARD15 genotypes. | 0.396685649 | 2007 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 18758464 | 149233 | IL23R | umls:C0021390 | GWASCAT | Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. | 0.340104897 | 2008 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 19103525 | 149233 | IL23R | umls:C0021390 | BeFree | IL-23R Arg381Gln polymorphism in Chilean patients with inflammatory bowel disease. | 0.340104897 | 2008 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 24971461 | 149233 | IL23R | umls:C0021390 | BeFree | After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant genotypes of IL23R G>A(rs11209026) (OR(CD,adj): 0.38, 95% CI: 0.21-0.67, p = 0.03; OR(IBD,adj) 0.43, 95% CI: 0.28-0.67, p = 0.007) and PTPN22 1858 G>A(rs2476601) (OR(CD,unadj) 0.54, 95% CI: 0.41-0.72, p = 7*10-4; OR(IBD,unadj): 0.61, 95% CI: 0.48-0.77, p = 0.001) were associated with reduced risk of CD. | 0.340104897 | 2014 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 23128233 | 149233 | IL23R | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.340104897 | 2012 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 17894849 | 149233 | IL23R | umls:C0021390 | BeFree | IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease. | 0.340104897 | 2007 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 17309073 | 170595 | IBD8 | umls:C0021390 | BeFree | The IL-23R allele was negatively associated with inflammatory bowel disease (IBD): the R381Q SNP was undertransmitted in children with IBD (8 transmitted [T] versus 27 untransmitted [UT]; P = 0.001). | 0.120271442 | 2007 | IL23R | 1 | 67240275 | G | A |
| rs11209026 | 20192940 | 149233 | IL23R | umls:C0021390 | GAD | [IL23R expression was variable in IBD patients compared with controls without significant overexpression or downregulation.] | 0.340104897 | 2010 | IL23R | 1 | 67240275 | G | A |
| rs11230563 | 23128233 | 923 | CD6 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | CD6;LOC105369326 | 11 | 61008737 | C | T |
| rs11246286 | 17068223 | 64787 | EPS8L2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | EPS8L2 | 11 | 715420 | G | A |
| rs11264799 | 17389014 | 3123 | HLA-DRB1 | umls:C0021390 | BeFree | Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G, rs7528684 and -110C>T, rs11264799) in patients with IBD and their interaction with HLA-DRB1 and CARD15 in patients with UC and CD, respectively. | 0.010358398 | 2007 | FCRL3 | 1 | 157700967 | C | T |
| rs11264799 | 17389014 | 64127 | NOD2 | umls:C0021390 | BeFree | Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G, rs7528684 and -110C>T, rs11264799) in patients with IBD and their interaction with HLA-DRB1 and CARD15 in patients with UC and CD, respectively. | 0.396685649 | 2007 | FCRL3 | 1 | 157700967 | C | T |
| rs11465804 | 22269043 | 64127 | NOD2 | umls:C0021390 | BeFree | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r SNP (rs11465804) showed a significant association to IBD (p < 0.03). | 0.396685649 | 2012 | IL23R | 1 | 67236843 | T | G |
| rs11465804 | 22269043 | 149233 | IL23R | umls:C0021390 | BeFree | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r SNP (rs11465804) showed a significant association to IBD (p < 0.03). | 0.340104897 | 2012 | IL23R | 1 | 67236843 | T | G |
| rs1156287 | 17068223 | 252983 | STXBP4 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | STXBP4 | 17 | 54999438 | G | A |
| rs11564258 | 23128233 | 283463 | MUC19 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.24 | 2012 | MUC19;LOC105369736 | 12 | 40398498 | G | A |
| rs11612508 | 23128233 | 80824 | DUSP16 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | DUSP16 | 12 | 12504579 | A | G |
| rs11614913 | 23543085 | 406938 | MIR146A | umls:C0021390 | BeFree | In the present preliminary study we evaluated the associations of two SNPs (rs2910164 and rs11614913 in miR-146a and miR-196a2, respectively) with the risk of inflammatory bowel disease (IBD) in a Greek population. | 0.000542884 | 2013 | MIR196A2 | 12 | 53991815 | C | T |
| rs11741861 | 23128233 | 91975 | ZNF300 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | ZNF300;IRGM | 5 | 150898347 | A | G |
| rs11747270 | 22065112 | 345611 | IRGM | umls:C0021390 | BeFree | We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958847, rs11747270 and rs13361189 within IRGM) in adult German inflammatory bowel disease patients (CD, n = 464; ulcerative colitis (UC), n = 292) and matched healthy controls (n = 508). | 0.13272543 | 2012 | IRGM | 5 | 150879305 | A | G |
| rs11759141 | 17068223 | 50508 | NOX3 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | LOC101928923;LOC105378072 | 6 | 155850714 | T | G |
| rs11857760 | 17068223 | 80031 | SEMA6D | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | SEMA6D | 15 | 47698643 | A | G |
| rs11857760 | 17068223 | 58472 | SQRDL | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | SEMA6D | 15 | 47698643 | A | G |
| rs11879191 | 23128233 | 11140 | CDC37 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | CDC37 | 19 | 10402235 | G | A |
| rs11974778 | 17068223 | 1523 | CUX1 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002638474 | 2006 | CUX1 | 7 | 101913083 | C | T |
| rs12103 | 23128233 | 54973 | CPSF3L | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | CPSF3L;PUSL1;MIR6727 | 1 | 1312114 | T | C |
| rs12103 | 23128233 | 126789 | PUSL1 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | CPSF3L;PUSL1;MIR6727 | 1 | 1312114 | T | C |
| rs12103 | 23128233 | 102465435 | MIR6727 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | CPSF3L;PUSL1;MIR6727 | 1 | 1312114 | T | C |
| rs1250546 | 23128233 | 57178 | ZMIZ1 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.124734064 | 2012 | ZMIZ1 | 10 | 79272775 | A | G |
| rs1250550 | 19915574 | 57178 | ZMIZ1 | umls:C0021390 | GWASCAT | Common variants at five new loci associated with early-onset inflammatory bowel disease. | 0.124734064 | 2009 | ZMIZ1 | 10 | 79300560 | C | A |
| rs1250550 | 19915574 | 57178 | ZMIZ1 | umls:C0021390 | GAD | [Common variants at five new loci associated with early-onset inflammatory bowel disease.] | 0.124734064 | 2009 | ZMIZ1 | 10 | 79300560 | C | A |
| rs1250550 | 19915574 | 53342 | IL17D | umls:C0021390 | 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)). | 0.002985861 | 2009 | ZMIZ1 | 10 | 79300560 | C | A |
| rs1250550 | 17068223 | 57178 | ZMIZ1 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.124734064 | 2006 | ZMIZ1 | 10 | 79300560 | C | A |
| rs12632101 | 17068223 | 491 | ATP2B2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | ATP2B2 | 3 | 10575794 | T | C |
| rs12654812 | 23128233 | 10636 | RGS14 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | RGS14 | 5 | 177367190 | G | A |
| rs1270912 | 17476680 | 9231 | DLG5 | umls:C0021390 | BeFree | Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitment domain 15); Asp299Gly and Thr399Ile of TLR4; -207G-->C, 1672C-->T (L503F), rs3792876, rs274551, rs272893, and rs273900 of SLC22A4/5; and 113G-->A as well as rs2289311, rs1270912, and rs2165047 of DLG5 (Drosophila discs large homologue 5) were assessed in 103 pediatric-onset and 696 adult-onset IBD patients. | 0.157420217 | 2007 | DLG5 | 10 | 77838130 | A | G |
| rs12722515 | 23128233 | 3559 | IL2RA | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.124267125 | 2012 | IL2RA | 10 | 6039267 | C | A |
| rs1292053 | 23128233 | 51174 | TUBD1 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | TUBD1 | 17 | 59886176 | A | G |
| rs12942547 | 23128233 | 6774 | STAT3 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.128891568 | 2012 | STAT3 | 17 | 42375526 | A | G |
| rs130555 | 24487271 | 8224 | SYN3 | umls:C0021390 | GWASCAT | Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients. | 0.12 | 2014 | SYN3 | 22 | 32787803 | C | T |
| rs1327872 | 17068223 | 339479 | BRINP3 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 1 | 190564570 | G | A |
| rs13361189 | 18580884 | 4689 | NCF4 | umls:C0021390 | BeFree | NCF4 and IRGM were significantly associated with ileal CD (P-value(rs4821544)=0.0090, odds ratio (OR)=1.425, 95% confidence interval (CI): 1.092-1.859; P-value(rs13361189)=0.0017, OR=1.942, 95% CI: 1.274-2.959; P-value(rs4958847)=0.0022, OR=1.767, 95% CI: 1.224-2.558), but not with other forms of inflammatory bowel disease (IBD). | 0.002638474 | 2008 | NA | 5 | 150843825 | T | C |
| rs13361189 | 22065112 | 345611 | IRGM | umls:C0021390 | BeFree | We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958847, rs11747270 and rs13361189 within IRGM) in adult German inflammatory bowel disease patients (CD, n = 464; ulcerative colitis (UC), n = 292) and matched healthy controls (n = 508). | 0.13272543 | 2012 | NA | 5 | 150843825 | T | C |
| rs1351563 | 17068223 | 51375 | SNX7 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 1 | 98851362 | A | G |
| rs1363907 | 23128233 | 64167 | ERAP2 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.120271442 | 2012 | ERAP1;ERAP2 | 5 | 96917099 | G | A |
| rs1457092 | 20303373 | 4650 | MYO9B | umls:C0021390 | BeFree | To date, seven studies have provided evidence for an association between the gene encoding for myosin IXB (MYO9B) and celiac disease (CD), and inflammatory bowel diseases, including single nucleotide polymorphisms (SNPs) rs2305767, rs1457092, and rs2305764. | 0.010444275 | 2010 | MYO9B | 19 | 17193427 | C | A |
| rs1472971 | 17068223 | 7006 | TEC | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | TEC | 4 | 48258627 | A | G |
| rs1517352 | 23128233 | 6775 | STAT4 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.121628651 | 2012 | STAT4 | 2 | 191066738 | A | C |
| rs152296 | 17068223 | 166336 | PRICKLE2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | PRICKLE2 | 3 | 64129771 | G | A |
| rs1545620 | 17087940 | 5079 | PAX5 | umls:C0021390 | 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. | 0.000271442 | 2006 | MYO9B | 19 | 17192965 | T | G |
| rs1562900 | 17068223 | 338 | APOB | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.004734064 | 2006 | NA | 2 | 21723567 | T | C |
| rs16853571 | 17068223 | 8929 | PHOX2B | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002638474 | 2006 | NA | 4 | 41751113 | A | C |
| rs17095830 | 23308121 | 8213 | BAS | umls:C0021390 | BeFree | The correlation between genetic polymorphisms, AS activity indexes, (namely, BASDAI, BASFI and BAS-G) and AS complications (uveitis and inflammatory bowel disease) were tested using the markers, rs4552569 and rs17095830. | 0.000271442 | 2013 | ANO6;LOC105369743 | 12 | 45381125 | A | G |
| rs17293632 | 23128233 | 4088 | SMAD3 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.120271442 | 2012 | SMAD3 | 15 | 67150258 | C | T |
| rs17379742 | 17068223 | 339479 | BRINP3 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 1 | 190597905 | T | A,C |
| rs1799969 | 16741608 | 10392 | NOD1 | umls:C0021390 | 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. | 0.013711509 | 2006 | ICAM1;LOC105372272 | 19 | 10284116 | G | A |
| rs1799969 | 16741608 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2006 | ICAM1;LOC105372272 | 19 | 10284116 | G | A |
| rs1799969 | 16570073 | 3383 | ICAM1 | umls:C0021390 | 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. | 0.01617823 | 2006 | ICAM1;LOC105372272 | 19 | 10284116 | G | A |
| rs1801155 | 11354631 | 324 | APC | umls:C0021390 | BeFree | Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin. | 0.123452799 | 2001 | APC | 5 | 112839514 | T | A |
| rs1801155 | 10445854 | 324 | APC | umls:C0021390 | BeFree | Low prevalence of the APC I1307K sequence in Jewish and non-Jewish patients with inflammatory bowel disease. | 0.123452799 | 1999 | APC | 5 | 112839514 | T | A |
| rs1801274 | 23128233 | 2212 | FCGR2A | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.120271442 | 2012 | FCGR2A | 1 | 161509955 | A | G |
| rs1801275 | 11378820 | 1234 | CCR5 | umls:C0021390 | BeFree | We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nucleotide change A1902G (Gln576Arg) of IL4RA, and IBD phenotypes, with the exception that in the UC group homozygosity for the G1902 allele of IL4RA was less frequent (0.019 vs 0.049, P=0.038). | 0.006905599 | 2001 | IL4R | 16 | 27363079 | A | G |
| rs1801275 | 11378820 | 3566 | IL4R | umls:C0021390 | BeFree | We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nucleotide change A1902G (Gln576Arg) of IL4RA, and IBD phenotypes, with the exception that in the UC group homozygosity for the G1902 allele of IL4RA was less frequent (0.019 vs 0.049, P=0.038). | 0.00554839 | 2001 | IL4R | 16 | 27363079 | A | G |
| rs1801282 | 19104705 | 5468 | PPARG | umls:C0021390 | BeFree | Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma (PPARgamma) gene in inflammatory bowel disease. | 0.006167218 | 2008 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 22276212 | 5468 | PPARG | umls:C0021390 | BeFree | Association between the Pro12Ala polymorphism of peroxisome proliferator-activated receptor gamma 2 and inflammatory bowel disease: a meta-analysis. | 0.006167218 | 2012 | PPARG | 3 | 12351626 | C | G |
| rs1805087 | 20085490 | 26246 | OR2L2 | umls:C0021390 | BeFree | In meta-analyses, only the variant MTR A2756G indicated an association with the risk of IBD for the allele contrast and the dominant model (odds ratio (OR) 1.48 (1.12-1.97) and OR 1.55 (1.12-2.15), respectively). | 0.000271442 | 2010 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 20085490 | 4548 | MTR | umls:C0021390 | BeFree | In meta-analyses, only the variant MTR A2756G indicated an association with the risk of IBD for the allele contrast and the dominant model (odds ratio (OR) 1.48 (1.12-1.97) and OR 1.55 (1.12-2.15), respectively). | 0.002638474 | 2010 | MTR | 1 | 236885200 | A | G |
| rs1805192 | 22276212 | 5468 | PPARG | umls:C0021390 | BeFree | Association between the Pro12Ala polymorphism of peroxisome proliferator-activated receptor gamma 2 and inflammatory bowel disease: a meta-analysis. | 0.006167218 | 2012 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 19104705 | 5468 | PPARG | umls:C0021390 | BeFree | Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma (PPARgamma) gene in inflammatory bowel disease. | 0.006167218 | 2008 | PPARG | 3 | 12379739 | C | G |
| rs1847472 | 23128233 | 60468 | BACH2 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | BACH2 | 6 | 90263440 | C | A |
| rs1861494 | 25171510 | 3458 | IFNG | umls:C0021390 | BeFree | IFNG rs1861494 polymorphism is associated with IBD disease severity and functional changes in both IFNG methylation and protein secretion. | 0.009434452 | 2015 | IFNG | 12 | 68157629 | C | T |
| rs1893217 | 23128233 | 5771 | PTPN2 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.123995683 | 2012 | PTPN2 | 18 | 12809341 | A | G |
| rs1923782 | 17068223 | 401535 | C9orf170 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 9 | 87344220 | C | T |
| rs2006996 | 21699788 | 9966 | TNFSF15 | umls:C0021390 | GAD | [The HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases susceptibility to UC but reduces risk for CD, based on a GWAS of a Japanese population.] | 0.265003785 | 2011 | NA | 9 | 114830358 | T | C |
| rs2032582 | 19115152 | 5243 | ABCB1 | umls:C0021390 | BeFree | Effects of polymorphism in G2677T/A triallelic region of MDR1 gene in Turkish patients with inflammatory bowel disease. | 0.021616999 | 2008 | ABCB1 | 7 | 87531302 | A | T,C |
| rs2043211 | 25564880 | 22900 | CARD8 | umls:C0021390 | BeFree | Association between CARD8 rs2043211 polymorphism and inflammatory bowel disease: a meta-analysis. | 0.001628651 | 2016 | CARD8 | 19 | 48234449 | A | T |
| rs2043211 | 21248762 | 64127 | NOD2 | umls:C0021390 | BeFree | Previous studies examining the association of a CARD8 single-nucleotide polymorphism (SNP) (rs2043211, p.Cys10X) with IBD yielded mixed results in Caucasians that may result from interaction with NALP3 or NOD2 (nucleotide-binding oligomerization domain 2) variants. | 0.396685649 | 2011 | CARD8 | 19 | 48234449 | A | T |
| rs2043211 | 20182451 | 22900 | CARD8 | umls:C0021390 | BeFree | However, studies testing for the association of the CARD8 loss-of-function single-nucleotide polymorphism (SNP) rs2043211 with IBD have yielded mixed results. | 0.001628651 | 2010 | CARD8 | 19 | 48234449 | A | T |
| rs2058660 | 23103228 | 8809 | IL18R1 | umls:C0021390 | 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. | 0.000542884 | 2012 | IL18RAP | 2 | 102437989 | G | A |
| rs2058660 | 23103228 | 3593 | IL12B | umls:C0021390 | 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. | 0.012354299 | 2012 | IL18RAP | 2 | 102437989 | G | A |
| rs2066842 | 15190267 | 7099 | TLR4 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.034166795 | 2004 | NOD2 | 16 | 50710713 | C | A,T |
| rs2066842 | 15190267 | 4695 | NDUFA2 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.001628651 | 2004 | NOD2 | 16 | 50710713 | C | A,T |
| rs2066842 | 15190267 | 64127 | NOD2 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.396685649 | 2004 | NOD2 | 16 | 50710713 | C | A,T |
| rs2066842 | 12115195 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2002 | NOD2 | 16 | 50710713 | C | A,T |
| rs2066842 | 15190267 | 929 | CD14 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.011725539 | 2004 | NOD2 | 16 | 50710713 | C | A,T |
| rs2066843 | 21209938 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2010 | NOD2 | 16 | 50711288 | C | A,T |
| rs2066844 | 17174426 | 64127 | NOD2 | umls:C0021390 | BeFree | In the current study, the frequency of CARD15/NOD2 gene variants (R702W, G908R, L1007fs), previously associated with Crohn's disease--a common inflammatory bowel disease, have been examined in a group of 308 sporadic PD patients and 220 healthy controls. | 0.396685649 | 2007 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 15967635 | 64127 | NOD2 | umls:C0021390 | BeFree | Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease. | 0.396685649 | 2005 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 15190267 | 7099 | TLR4 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.034166795 | 2004 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 12198692 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2002 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 12631669 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2003 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 22269043 | 149233 | IL23R | umls:C0021390 | BeFree | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r SNP (rs11465804) showed a significant association to IBD (p < 0.03). | 0.340104897 | 2012 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 18756601 | 6584 | SLC22A5 | umls:C0021390 | BeFree | To investigate the single nucleotide polymorphism (SNPs) distribution of NOD2/CARD15 (R702W, G908R), OCTN1 1672C/T and OCTN2-207G/C in Chinese patients with inflammatory bowel disease (IBD). | 0.019726837 | 2008 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 12115195 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2002 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 16741608 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2006 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 20155851 | 64127 | NOD2 | umls:C0021390 | 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). | 0.396685649 | 2010 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 18756601 | 6583 | SLC22A4 | umls:C0021390 | BeFree | To investigate the single nucleotide polymorphism (SNPs) distribution of NOD2/CARD15 (R702W, G908R), OCTN1 1672C/T and OCTN2-207G/C in Chinese patients with inflammatory bowel disease (IBD). | 0.141169923 | 2008 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 16741608 | 10392 | NOD1 | umls:C0021390 | 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. | 0.013711509 | 2006 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 15190267 | 4695 | NDUFA2 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.001628651 | 2004 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 22269043 | 64127 | NOD2 | umls:C0021390 | BeFree | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r SNP (rs11465804) showed a significant association to IBD (p < 0.03). | 0.396685649 | 2012 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 15190267 | 64127 | NOD2 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.396685649 | 2004 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 17355968 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2007 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 12840668 | 64127 | NOD2 | umls:C0021390 | BeFree | Unfortunately, even if the association between the three main CARD15 mutations (R702W, G908R and 1007fs) and CD is clearly established, it is not useful today to genotype asymptomatic at risk people or inflammatory bowel disease patients as a routine. | 0.396685649 | 2003 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 15190267 | 929 | CD14 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.011725539 | 2004 | NOD2 | 16 | 50712015 | C | T |
| rs2066844 | 20155851 | 7124 | TNF | umls:C0021390 | 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). | 0.182983241 | 2010 | NOD2 | 16 | 50712015 | C | T |
| rs2066845 | 15190267 | 64127 | NOD2 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.396685649 | 2004 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 20155851 | 64127 | NOD2 | umls:C0021390 | 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). | 0.396685649 | 2010 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 17278126 | 64127 | NOD2 | umls:C0021390 | BeFree | Role of ASCA and the NOD2/CARD15 mutation Gly908Arg in predicting increased surgical costs in Crohn's disease patients: a project of the European Collaborative Study Group on Inflammatory Bowel Disease. | 0.396685649 | 2007 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 12115195 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2002 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 15190267 | 4695 | NDUFA2 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.001628651 | 2004 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 12198692 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2002 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 17174426 | 64127 | NOD2 | umls:C0021390 | BeFree | In the current study, the frequency of CARD15/NOD2 gene variants (R702W, G908R, L1007fs), previously associated with Crohn's disease--a common inflammatory bowel disease, have been examined in a group of 308 sporadic PD patients and 220 healthy controls. | 0.396685649 | 2007 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 12840668 | 64127 | NOD2 | umls:C0021390 | BeFree | Unfortunately, even if the association between the three main CARD15 mutations (R702W, G908R and 1007fs) and CD is clearly established, it is not useful today to genotype asymptomatic at risk people or inflammatory bowel disease patients as a routine. | 0.396685649 | 2003 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 16741608 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2006 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 15190267 | 7099 | TLR4 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.034166795 | 2004 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 16741608 | 10392 | NOD1 | umls:C0021390 | 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. | 0.013711509 | 2006 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 18756601 | 6583 | SLC22A4 | umls:C0021390 | BeFree | To investigate the single nucleotide polymorphism (SNPs) distribution of NOD2/CARD15 (R702W, G908R), OCTN1 1672C/T and OCTN2-207G/C in Chinese patients with inflammatory bowel disease (IBD). | 0.141169923 | 2008 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 22269043 | 149233 | IL23R | umls:C0021390 | BeFree | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r SNP (rs11465804) showed a significant association to IBD (p < 0.03). | 0.340104897 | 2012 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 20155851 | 7124 | TNF | umls:C0021390 | 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). | 0.182983241 | 2010 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 15190267 | 929 | CD14 | umls:C0021390 | BeFree | In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C). | 0.011725539 | 2004 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 15967635 | 64127 | NOD2 | umls:C0021390 | BeFree | Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease. | 0.396685649 | 2005 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 18756601 | 6584 | SLC22A5 | umls:C0021390 | BeFree | To investigate the single nucleotide polymorphism (SNPs) distribution of NOD2/CARD15 (R702W, G908R), OCTN1 1672C/T and OCTN2-207G/C in Chinese patients with inflammatory bowel disease (IBD). | 0.019726837 | 2008 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 22269043 | 64127 | NOD2 | umls:C0021390 | BeFree | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r SNP (rs11465804) showed a significant association to IBD (p < 0.03). | 0.396685649 | 2012 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 17355968 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2007 | NOD2 | 16 | 50722629 | G | C,T |
| rs2066845 | 12631669 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2003 | NOD2 | 16 | 50722629 | G | C,T |
| rs2075820 | 16741608 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2006 | NOD1 | 7 | 30452621 | C | T |
| rs2075820 | 16741608 | 10392 | NOD1 | umls:C0021390 | 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. | 0.013711509 | 2006 | NOD1 | 7 | 30452621 | C | T |
| rs2075820 | 17964870 | 10392 | NOD1 | umls:C0021390 | BeFree | The frequencies of the variant alleles of NOD1 G796A differed significantly between the Crohn's disease patients and both healthy (GG 49.5% vs. 67%; AG 41.5% vs. 28%; and AA 9.0% vs. 5.2%; p<0.0001) and non-inflammatory bowel disease controls with chronic gastritis. | 0.013711509 | 2007 | NOD1 | 7 | 30452621 | C | T |
| rs2076756 | 21209938 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2010 | NOD2 | 16 | 50722970 | A | G |
| rs2076756 | 17068223 | 64127 | NOD2 | umls:C0021390 | GWASCAT | A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. | 0.396685649 | 2006 | NOD2 | 16 | 50722970 | A | G |
| rs2165047 | 17476680 | 9231 | DLG5 | umls:C0021390 | BeFree | Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitment domain 15); Asp299Gly and Thr399Ile of TLR4; -207G-->C, 1672C-->T (L503F), rs3792876, rs274551, rs272893, and rs273900 of SLC22A4/5; and 113G-->A as well as rs2289311, rs1270912, and rs2165047 of DLG5 (Drosophila discs large homologue 5) were assessed in 103 pediatric-onset and 696 adult-onset IBD patients. | 0.157420217 | 2007 | DLG5 | 10 | 77791882 | C | T |
| rs2188962 | 23128233 | 441108 | C5orf56 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | C5orf56 | 5 | 132435113 | C | T |
| rs2227564 | 23128233 | 5328 | PLAU | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | PLAU;C10orf55 | 10 | 73913343 | T | C |
| rs2227564 | 23128233 | 414236 | C10orf55 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | PLAU;C10orf55 | 10 | 73913343 | T | C |
| rs2231884 | 23128233 | 9158 | FIBP | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | FIBP;CCDC85B | 11 | 65889093 | C | T |
| rs2231884 | 23128233 | 11007 | CCDC85B | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | FIBP;CCDC85B | 11 | 65889093 | C | T |
| rs224136 | 17068223 | 22891 | ZNF365 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.004734064 | 2006 | NA | 10 | 62710915 | C | T |
| rs2241880 | 19575361 | 64127 | NOD2 | umls:C0021390 | BeFree | Our aims were: to replicate the ATG16L1 Thr300Ala association with inflammatory bowel disease (IBD) in the Spanish population, to perform a meta-analysis to determine the risk conferred to the different IBD subgroups, and to test for the interaction with CARD15 or IL23R risk loci. | 0.396685649 | 2009 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
| rs2241880 | 17894849 | 149233 | IL23R | umls:C0021390 | BeFree | IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease. | 0.340104897 | 2007 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
| rs2241880 | 19575361 | 149233 | IL23R | umls:C0021390 | BeFree | Our aims were: to replicate the ATG16L1 Thr300Ala association with inflammatory bowel disease (IBD) in the Spanish population, to perform a meta-analysis to determine the risk conferred to the different IBD subgroups, and to test for the interaction with CARD15 or IL23R risk loci. | 0.340104897 | 2009 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
| rs2241880 | 20222171 | 55054 | ATG16L1 | umls:C0021390 | BeFree | T300A polymorphism of ATG16L1 and susceptibility to inflammatory bowel diseases: a meta-analysis. | 0.173188927 | 2010 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
| rs2241880 | 17894849 | 64127 | NOD2 | umls:C0021390 | BeFree | rs11209026 and rs2241880 genotype distributions were examined both within IBD clinical subphenotypes and CARD15 genotypes. | 0.396685649 | 2007 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
| rs2241880 | 18671817 | 55054 | ATG16L1 | umls:C0021390 | BeFree | ATG16L1 T300A shows strong associations with disease subgroups in a large Australian IBD population: further support for significant disease heterogeneity. | 0.173188927 | 2008 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
| rs2241880 | 19575361 | 55054 | ATG16L1 | umls:C0021390 | BeFree | Role of ATG16L1 Thr300Ala polymorphism in inflammatory bowel disease: a Study in the Spanish population and a meta-analysis. | 0.173188927 | 2009 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
| rs2241880 | 17894849 | 55054 | ATG16L1 | umls:C0021390 | BeFree | IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease. | 0.173188927 | 2007 | ATG16L1;SCARNA5 | 2 | 233274722 | A | G |
| rs2266959 | 23128233 | 7332 | UBE2L3 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | UBE2L3 | 22 | 21568615 | G | T |
| rs2277680 | 18248772 | 58191 | CXCL16 | umls:C0021390 | BeFree | Genotype-phenotype analysis of the CXCL16 p.Ala181Val polymorphism in inflammatory bowel disease. | 0.000271442 | 2008 | CXCL16 | 17 | 4735268 | G | A |
| rs2289311 | 17476680 | 9231 | DLG5 | umls:C0021390 | BeFree | Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitment domain 15); Asp299Gly and Thr399Ile of TLR4; -207G-->C, 1672C-->T (L503F), rs3792876, rs274551, rs272893, and rs273900 of SLC22A4/5; and 113G-->A as well as rs2289311, rs1270912, and rs2165047 of DLG5 (Drosophila discs large homologue 5) were assessed in 103 pediatric-onset and 696 adult-onset IBD patients. | 0.157420217 | 2007 | DLG5 | 10 | 77805897 | G | A |
| rs2305764 | 20303373 | 4650 | MYO9B | umls:C0021390 | BeFree | To date, seven studies have provided evidence for an association between the gene encoding for myosin IXB (MYO9B) and celiac disease (CD), and inflammatory bowel diseases, including single nucleotide polymorphisms (SNPs) rs2305767, rs1457092, and rs2305764. | 0.010444275 | 2010 | MYO9B | 19 | 17203024 | G | A |
| rs2305767 | 20303373 | 4650 | MYO9B | umls:C0021390 | BeFree | To date, seven studies have provided evidence for an association between the gene encoding for myosin IXB (MYO9B) and celiac disease (CD), and inflammatory bowel diseases, including single nucleotide polymorphisms (SNPs) rs2305767, rs1457092, and rs2305764. | 0.010444275 | 2010 | MYO9B | 19 | 17183487 | C | T |
| rs2315008 | 18758464 | 84619 | ZGPAT | umls:C0021390 | GWASCAT | Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. | 0.122367032 | 2008 | ZGPAT | 20 | 63712604 | T | G |
| rs2315008 | 18758464 | 8771 | TNFRSF6B | umls:C0021390 | GAD | [Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.] | 0.005634266 | 2008 | ZGPAT | 20 | 63712604 | T | G |
| rs2315008 | 18758464 | 84619 | ZGPAT | umls:C0021390 | GAD | [Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.] | 0.122367032 | 2008 | ZGPAT | 20 | 63712604 | T | G |
| rs2343278 | 17068223 | 339512 | C1orf110 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 1 | 162968913 | G | T |
| rs2343331 | 17068223 | 339512 | C1orf110 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 1 | 162961030 | C | T |
| rs2382817 | 23128233 | 25953 | PNKD | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | PNKD;TMBIM1 | 2 | 218286495 | A | C |
| rs2382817 | 23128233 | 64114 | TMBIM1 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | PNKD;TMBIM1 | 2 | 218286495 | A | C |
| rs2412970 | 23128233 | 150280 | HORMAD2 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.122367032 | 2012 | HORMAD2 | 22 | 30090837 | A | G |
| rs2412973 | 19915574 | 150280 | HORMAD2 | umls:C0021390 | GAD | [Common variants at five new loci associated with early-onset inflammatory bowel disease.] | 0.122367032 | 2009 | HORMAD2 | 22 | 30133642 | C | A |
| rs2412973 | 19915574 | 150280 | HORMAD2 | umls:C0021390 | GWASCAT | Common variants at five new loci associated with early-onset inflammatory bowel disease. | 0.122367032 | 2009 | HORMAD2 | 22 | 30133642 | C | A |
| rs2412973 | 19915574 | 53342 | IL17D | umls:C0021390 | 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)). | 0.002985861 | 2009 | HORMAD2 | 22 | 30133642 | C | A |
| rs2476601 | 24971461 | 149233 | IL23R | umls:C0021390 | BeFree | After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant genotypes of IL23R G>A(rs11209026) (OR(CD,adj): 0.38, 95% CI: 0.21-0.67, p = 0.03; OR(IBD,adj) 0.43, 95% CI: 0.28-0.67, p = 0.007) and PTPN22 1858 G>A(rs2476601) (OR(CD,unadj) 0.54, 95% CI: 0.41-0.72, p = 7*10-4; OR(IBD,unadj): 0.61, 95% CI: 0.48-0.77, p = 0.001) were associated with reduced risk of CD. | 0.340104897 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2476601 | 16185327 | 52 | ACP1 | umls:C0021390 | BeFree | The aim of this study was to assess the possible association between the protein tyrosine phosphatase non-receptor 22 (PTPN22) gene 1858C-->T (rs2476601, encoding R620W) polymorphism and inflammatory bowel disease (IBD). | 0.001628651 | 2005 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2476601 | 16760194 | 26191 | PTPN22 | umls:C0021390 | BeFree | This meta-analysis showed the association between the T-allele and the T/T genotype and JIA (OR = 1.34, P = 0.03; OR = 1.97, P = 0.02) but did not reveal the association between the PTPN22 C1858T polymorphism and IBD, psoriasis, multiple sclerosis, Addison's disease and Celiac disease. | 0.129001189 | 2007 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2488389 | 23128233 | 163486 | DENND1B | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | DENND1B | 1 | 197662011 | G | A |
| rs2490271 | 17068223 | 339479 | BRINP3 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | BRINP3 | 1 | 190473841 | G | A |
| rs2501432 | 25599774 | 1269 | CNR2 | umls:C0021390 | BeFree | These pilot findings suggest that CB2 Q63R polymorphism does not play a major role in genetic susceptibility to IBD or in its disease phenotypes among Turkish subjects. | 0.000542884 | 2015 | CNR2 | 1 | 23875430 | T | C |
| rs2542151 | 22457781 | 5771 | PTPN2 | umls:C0021390 | BeFree | Genomic DNA from 2131 individuals of Caucasian origin (905 patients with CD, 318 patients with UC, and 908 healthy, unrelated controls) was analyzed for two SNPs in the PTPN2 region (rs2542151, rs7234029) for which associations with IBD were found in previous studies in other cohorts. | 0.123995683 | 2012 | NA | 18 | 12779948 | G | T |
| rs2569190 | 23049772 | 929 | CD14 | umls:C0021390 | BeFree | Association between CD14 gene C-260T polymorphism and inflammatory bowel disease: a meta-analysis. | 0.011725539 | 2012 | CD14;TMCO6 | 5 | 140633331 | A | G |
| rs2593549 | 17068223 | 744 | MPPED2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | LOC105376609 | 11 | 30603811 | A | G |
| rs259964 | 23128233 | 128611 | ZNF831 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | ZNF831 | 20 | 59249254 | A | G |
| rs2631367 | 21279723 | 6583 | SLC22A4 | umls:C0021390 | BeFree | To evaluate the association of the IBD5 locus to the predisposition of inflammatory bowel diseases (IBDs), a series of meta-analyses between five IBD5 variants (OCTN1 C1672T, OCTN2 G-207C, OCTN1/2 TC haplotype, IGR2096a_1, IGR2198a_1 and IGR2230a_1) and Crohn's disease (CD) and ulcerative colitis (UC) were performed, which included a total of 26 studies. | 0.141169923 | 2011 | SLC22A5;LOC553103 | 5 | 132369766 | C | G |
| rs2631367 | 16519742 | 6584 | SLC22A5 | umls:C0021390 | BeFree | Polymorphisms in the organic cation transporter (OCTN) genes SLC22A4 (OCTN1; polymorphism 1672C/T) and SLC22A5 (OCTN2; polymorphism -207G/C) at the inflammatory bowel disease (IBD) 5 locus comprise a two-allele haplotype (SLC22A-TC) associated with increased risk for Crohn's disease (CD). | 0.019726837 | 2006 | SLC22A5;LOC553103 | 5 | 132369766 | C | G |
| rs2631367 | 21279723 | 6584 | SLC22A5 | umls:C0021390 | BeFree | To evaluate the association of the IBD5 locus to the predisposition of inflammatory bowel diseases (IBDs), a series of meta-analyses between five IBD5 variants (OCTN1 C1672T, OCTN2 G-207C, OCTN1/2 TC haplotype, IGR2096a_1, IGR2198a_1 and IGR2230a_1) and Crohn's disease (CD) and ulcerative colitis (UC) were performed, which included a total of 26 studies. | 0.019726837 | 2011 | SLC22A5;LOC553103 | 5 | 132369766 | C | G |
| rs2631367 | 16519742 | 6583 | SLC22A4 | umls:C0021390 | BeFree | Polymorphisms in the organic cation transporter (OCTN) genes SLC22A4 (OCTN1; polymorphism 1672C/T) and SLC22A5 (OCTN2; polymorphism -207G/C) at the inflammatory bowel disease (IBD) 5 locus comprise a two-allele haplotype (SLC22A-TC) associated with increased risk for Crohn's disease (CD). | 0.141169923 | 2006 | SLC22A5;LOC553103 | 5 | 132369766 | C | G |
| rs26528 | 23128233 | 246778 | IL27 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12764398 | 2012 | IL27;NPIPB8 | 16 | 28506388 | T | C |
| rs272893 | 17476680 | 9231 | DLG5 | umls:C0021390 | BeFree | Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitment domain 15); Asp299Gly and Thr399Ile of TLR4; -207G-->C, 1672C-->T (L503F), rs3792876, rs274551, rs272893, and rs273900 of SLC22A4/5; and 113G-->A as well as rs2289311, rs1270912, and rs2165047 of DLG5 (Drosophila discs large homologue 5) were assessed in 103 pediatric-onset and 696 adult-onset IBD patients. | 0.157420217 | 2007 | SLC22A4;LOC553103 | 5 | 132327369 | T | C |
| rs273900 | 17476680 | 9231 | DLG5 | umls:C0021390 | BeFree | Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitment domain 15); Asp299Gly and Thr399Ile of TLR4; -207G-->C, 1672C-->T (L503F), rs3792876, rs274551, rs272893, and rs273900 of SLC22A4/5; and 113G-->A as well as rs2289311, rs1270912, and rs2165047 of DLG5 (Drosophila discs large homologue 5) were assessed in 103 pediatric-onset and 696 adult-onset IBD patients. | 0.157420217 | 2007 | LOC553103 | 5 | 132358913 | G | A |
| rs274551 | 17476680 | 9231 | DLG5 | umls:C0021390 | BeFree | Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitment domain 15); Asp299Gly and Thr399Ile of TLR4; -207G-->C, 1672C-->T (L503F), rs3792876, rs274551, rs272893, and rs273900 of SLC22A4/5; and 113G-->A as well as rs2289311, rs1270912, and rs2165047 of DLG5 (Drosophila discs large homologue 5) were assessed in 103 pediatric-onset and 696 adult-onset IBD patients. | 0.157420217 | 2007 | SLC22A5 | 5 | 132391988 | T | C |
| rs2762051 | 24911414 | 60498 | IGAN1 | umls:C0021390 | BeFree | These four variants are implicated in complex phenotypes such as ulcerative colitis and AIDS progression disease (rs10491434), Celiac disease (rs2762051), Crohn's disease, IgA nephropathy and early-onset inflammatory bowel disease (rs713875) and height (rs6569648). | 0.000271442 | 2014 | DLEU1 | 13 | 50261579 | C | T |
| rs2790216 | 23128233 | 253430 | IPMK | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | IPMK | 10 | 58238165 | G | A |
| rs2819130 | 17068223 | 5236 | PGM1 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 1 | 63765870 | G | A |
| rs2836878 | 18758464 | 8624 | PSMG1 | umls:C0021390 | GAD | [Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.] | 0.002367032 | 2008 | NA | 21 | 39093608 | G | A |
| rs2841974 | 17068223 | 339512 | C1orf110 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 1 | 162989228 | G | A |
| rs2841979 | 17068223 | 339512 | C1orf110 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | LOC105371515 | 1 | 162990046 | A | G |
| rs2899961 | 17068223 | 23116 | FAM179B | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | FAM179B | 14 | 45037654 | G | T |
| rs2910164 | 23543085 | 406938 | MIR146A | umls:C0021390 | BeFree | In the present preliminary study we evaluated the associations of two SNPs (rs2910164 and rs11614913 in miR-146a and miR-196a2, respectively) with the risk of inflammatory bowel disease (IBD) in a Greek population. | 0.000542884 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2930047 | 23128233 | 1611 | DAP | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | DAP | 5 | 10695414 | T | C |
| rs3087243 | 20491567 | 1493 | CTLA4 | umls:C0021390 | BeFree | We have evaluated functional polymorphism (rs3087243; in literature known also as CTLA4 CT60) in the cytotoxic T lymphocyte antigen 4 (CTLA4) gene, previously associated with several autoimmune diseases, for potential association with inflammatory bowel diseases (IBD). | 0.009001189 | 2010 | CTLA4 | 2 | 203874196 | G | A |
| rs3197999 | 22237417 | 4485 | MST1 | umls:C0021390 | BeFree | Macrophage-stimulating protein polymorphism rs3197999 is associated with a gain of function: implications for inflammatory bowel disease. | 0.130553895 | 2012 | MST1 | 3 | 49684099 | G | A |
| rs3197999 | 23128233 | 4485 | MST1 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.130553895 | 2012 | MST1 | 3 | 49684099 | G | A |
| rs352140 | 19455129 | 149233 | IL23R | umls:C0021390 | 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. | 0.340104897 | 2009 | TLR9 | 3 | 52222681 | C | A,T |
| rs352140 | 19455129 | 50941 | IBD5 | umls:C0021390 | 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. | 0.132887252 | 2009 | TLR9 | 3 | 52222681 | C | A,T |
| rs352140 | 19455129 | 9231 | DLG5 | umls:C0021390 | 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. | 0.157420217 | 2009 | TLR9 | 3 | 52222681 | C | A,T |
| rs352140 | 19455129 | 54106 | TLR9 | umls:C0021390 | 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. | 0.000542884 | 2009 | TLR9 | 3 | 52222681 | C | A,T |
| rs352140 | 19455129 | 55054 | ATG16L1 | umls:C0021390 | 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. | 0.173188927 | 2009 | TLR9 | 3 | 52222681 | C | A,T |
| rs35675666 | 23128233 | 11315 | PARK7 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | PARK7 | 1 | 7961913 | G | C,T |
| rs35761398 | 25599774 | 1269 | CNR2 | umls:C0021390 | BeFree | These pilot findings suggest that CB2 Q63R polymorphism does not play a major role in genetic susceptibility to IBD or in its disease phenotypes among Turkish subjects. | 0.000542884 | 2015 | NA | NA | NA | NA | NA |
| rs3743195 | 17068223 | 5923 | RASGRF1 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | RASGRF1 | 15 | 78973524 | G | A |
| rs374499 | 17068223 | 133619 | PRRC1 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 5 | 127561368 | G | A |
| rs3749171 | 23128233 | 2859 | GPR35 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | GPR35 | 2 | 240630275 | C | T |
| rs3792876 | 17476680 | 9231 | DLG5 | umls:C0021390 | BeFree | Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitment domain 15); Asp299Gly and Thr399Ile of TLR4; -207G-->C, 1672C-->T (L503F), rs3792876, rs274551, rs272893, and rs273900 of SLC22A4/5; and 113G-->A as well as rs2289311, rs1270912, and rs2165047 of DLG5 (Drosophila discs large homologue 5) were assessed in 103 pediatric-onset and 696 adult-onset IBD patients. | 0.157420217 | 2007 | SLC22A4 | 5 | 132301616 | C | T |
| rs3851228 | 23128233 | 643749 | TRAF3IP2-AS1 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | TRAF3IP2-AS1 | 6 | 111526988 | A | T |
| rs386629540 | 25599774 | 1269 | CNR2 | umls:C0021390 | BeFree | These pilot findings suggest that CB2 Q63R polymorphism does not play a major role in genetic susceptibility to IBD or in its disease phenotypes among Turkish subjects. | 0.000542884 | 2015 | NA | NA | NA | NA | NA |
| rs397507444 | 17111197 | 1636 | ACE | umls:C0021390 | BeFree | There was a statistical difference between the proportions of the mutated allele frequencies of Beta-Fibrinogen-455G-A, MTHFR A1298C and ACE-I/D in IBD. | 0.013006804 | 2006 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17111197 | 4524 | MTHFR | umls:C0021390 | BeFree | There was a statistical difference between the proportions of the mutated allele frequencies of Beta-Fibrinogen-455G-A, MTHFR A1298C and ACE-I/D in IBD. | 0.016645169 | 2006 | MTHFR | 1 | 11794407 | T | G |
| rs4246905 | 23128233 | 9966 | TNFSF15 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.265003785 | 2012 | TNFSF15 | 9 | 114790969 | T | C |
| rs4358188 | 21272798 | 671 | BPI | umls:C0021390 | BeFree | Association between bactericidal/permeability increasing protein (BPI) gene polymorphism (Lys216Glu) and inflammatory bowel disease. | 0.000814326 | 2011 | BPI;LOC105372612 | 20 | 38318446 | G | A |
| rs4435030 | 17068223 | 341152 | OR2AT4 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 11 | 75094960 | C | A |
| rs4552569 | 23308121 | 8213 | BAS | umls:C0021390 | BeFree | The correlation between genetic polymorphisms, AS activity indexes, (namely, BASDAI, BASFI and BAS-G) and AS complications (uveitis and inflammatory bowel disease) were tested using the markers, rs4552569 and rs17095830. | 0.000271442 | 2013 | NA | 5 | 83877774 | C | T |
| rs4613763 | 17068223 | 1601 | DAB2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 5 | 40392626 | T | C |
| rs4646249 | 17068223 | 10 | NAT2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002909916 | 2006 | NA | 8 | 18402921 | T | G |
| rs4676410 | 19915574 | 53342 | IL17D | umls:C0021390 | 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)). | 0.002985861 | 2009 | GPR35 | 2 | 240624322 | G | A |
| rs4721 | 17068223 | 5919 | RARRES2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002638474 | 2006 | RARRES2;LRRC61 | 7 | 150338437 | T | G,C,A |
| rs4721 | 17068223 | 65999 | LRRC61 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | RARRES2;LRRC61 | 7 | 150338437 | T | G,C,A |
| rs4748442 | 17068223 | 221074 | SLC39A12 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 10 | 18110590 | C | T |
| rs4773094 | 17068223 | 8660 | IRS2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 13 | 109789136 | G | A |
| rs477515 | 18758464 | 3117 | HLA-DQA1 | umls:C0021390 | GAD | [Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.] | 0.004734064 | 2008 | NA | 6 | 32601914 | G | A |
| rs4810663 | 17068223 | 55959 | SULF2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | SULF2 | 20 | 47711762 | C | T |
| rs4821544 | 18580884 | 4689 | NCF4 | umls:C0021390 | BeFree | NCF4 and IRGM were significantly associated with ileal CD (P-value(rs4821544)=0.0090, odds ratio (OR)=1.425, 95% confidence interval (CI): 1.092-1.859; P-value(rs13361189)=0.0017, OR=1.942, 95% CI: 1.274-2.959; P-value(rs4958847)=0.0022, OR=1.767, 95% CI: 1.224-2.558), but not with other forms of inflammatory bowel disease (IBD). | 0.002638474 | 2008 | NCF4 | 22 | 36862461 | T | C |
| rs4821544 | 17068223 | 4689 | NCF4 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002638474 | 2006 | NCF4 | 22 | 36862461 | T | C |
| rs4845604 | 23128233 | 6097 | RORC | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.120271442 | 2012 | RORC | 1 | 151829204 | G | A |
| rs4878061 | 17068223 | 401535 | C9orf170 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 9 | 87344686 | G | A |
| rs4911259 | 23128233 | 1789 | DNMT3B | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | DNMT3B | 20 | 32788476 | T | G |
| rs4958847 | 22065112 | 345611 | IRGM | umls:C0021390 | BeFree | We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958847, rs11747270 and rs13361189 within IRGM) in adult German inflammatory bowel disease patients (CD, n = 464; ulcerative colitis (UC), n = 292) and matched healthy controls (n = 508). | 0.13272543 | 2012 | IRGM | 5 | 150860025 | G | A |
| rs4958847 | 18580884 | 4689 | NCF4 | umls:C0021390 | BeFree | NCF4 and IRGM were significantly associated with ileal CD (P-value(rs4821544)=0.0090, odds ratio (OR)=1.425, 95% confidence interval (CI): 1.092-1.859; P-value(rs13361189)=0.0017, OR=1.942, 95% CI: 1.274-2.959; P-value(rs4958847)=0.0022, OR=1.767, 95% CI: 1.224-2.558), but not with other forms of inflammatory bowel disease (IBD). | 0.002638474 | 2008 | IRGM | 5 | 150860025 | G | A |
| rs4986790 | 18174680 | 4695 | NDUFA2 | umls:C0021390 | BeFree | The c.1-260C>T promoter variant of CD14 but not the c.896A>G (p.D299G) variant of toll-like receptor 4 (TLR4) genes is associated with inflammatory bowel disease. | 0.001628651 | 2007 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 18034244 | 7099 | TLR4 | umls:C0021390 | BeFree | Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) have been shown to be associated with increased risk of Gram-negative bacteremia in sepsis patients and with susceptibility to inflammatory bowel disease. | 0.034166795 | 2008 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 18174680 | 7099 | TLR4 | umls:C0021390 | BeFree | The c.1-260C>T promoter variant of CD14 but not the c.896A>G (p.D299G) variant of toll-like receptor 4 (TLR4) genes is associated with inflammatory bowel disease. | 0.034166795 | 2007 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 18174680 | 929 | CD14 | umls:C0021390 | BeFree | The c.1-260C>T promoter variant of CD14 but not the c.896A>G (p.D299G) variant of toll-like receptor 4 (TLR4) genes is associated with inflammatory bowel disease. | 0.011725539 | 2007 | TLR4 | 9 | 117713024 | A | G |
| rs4986791 | 18034244 | 7099 | TLR4 | umls:C0021390 | BeFree | Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) have been shown to be associated with increased risk of Gram-negative bacteremia in sepsis patients and with susceptibility to inflammatory bowel disease. | 0.034166795 | 2008 | TLR4 | 9 | 117713324 | C | T |
| rs5498 | 15334773 | 3383 | ICAM1 | umls:C0021390 | BeFree | Prevalence of the K469E polymorphism of intercellular adhesion molecule 1 gene in Italian patients with inflammatory bowel disease. | 0.01617823 | 2004 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 12477764 | 3383 | ICAM1 | umls:C0021390 | BeFree | Association between K469E allele of intercellular adhesion molecule 1 gene and inflammatory bowel disease in a Japanese population. | 0.01617823 | 2003 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 16570073 | 3383 | ICAM1 | umls:C0021390 | 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. | 0.01617823 | 2006 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 16741608 | 10392 | NOD1 | umls:C0021390 | 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. | 0.013711509 | 2006 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 16741608 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2006 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 18647548 | 1234 | CCR5 | umls:C0021390 | BeFree | The frequency of well-known mutations (R702W, G908W and 1007fs in the NOD2 gene; K469E in the ICAM-1 gene, and Delta32 in the CCR5 gene) involved in IBD was tested in 45 patients with CD and 22 patients with UC. | 0.006905599 | 2008 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5498 | 25942347 | 3383 | ICAM1 | umls:C0021390 | BeFree | The polymorphisms K469E and G261R of intercellular adhesion molecule-1 and susceptibility to inflammatory bowel disease: a meta-analysis. | 0.01617823 | 2016 | ICAM1;ICAM4;LOC105372272 | 19 | 10285007 | A | G |
| rs5743289 | 18758464 | 64127 | NOD2 | umls:C0021390 | GWASCAT | Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. | 0.396685649 | 2008 | NOD2 | 16 | 50722863 | C | G,T |
| rs5743293 | 22269043 | 64127 | NOD2 | umls:C0021390 | BeFree | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r SNP (rs11465804) showed a significant association to IBD (p < 0.03). | 0.396685649 | 2012 | NOD2 | 16 | 50729870 | - | C |
| rs5743293 | 22269043 | 149233 | IL23R | umls:C0021390 | BeFree | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r SNP (rs11465804) showed a significant association to IBD (p < 0.03). | 0.340104897 | 2012 | NOD2 | 16 | 50729870 | - | C |
| rs5743342 | 16741608 | 64127 | NOD2 | umls:C0021390 | 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. | 0.396685649 | 2006 | NOD1 | 7 | 30452303 | C | T |
| rs5743342 | 16741608 | 10392 | NOD1 | umls:C0021390 | 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. | 0.013711509 | 2006 | NOD1 | 7 | 30452303 | C | T |
| rs5743836 | 19455129 | 55054 | ATG16L1 | umls:C0021390 | 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. | 0.173188927 | 2009 | TLR9 | 3 | 52226766 | A | G |
| rs5743836 | 19455129 | 9231 | DLG5 | umls:C0021390 | 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. | 0.157420217 | 2009 | TLR9 | 3 | 52226766 | A | G |
| rs5743836 | 19455129 | 54106 | TLR9 | umls:C0021390 | 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. | 0.000542884 | 2009 | TLR9 | 3 | 52226766 | A | G |
| rs5743836 | 19455129 | 149233 | IL23R | umls:C0021390 | 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. | 0.340104897 | 2009 | TLR9 | 3 | 52226766 | A | G |
| rs5743836 | 19455129 | 50941 | IBD5 | umls:C0021390 | 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. | 0.132887252 | 2009 | TLR9 | 3 | 52226766 | A | G |
| rs601338 | 23075394 | 2524 | FUT2 | umls:C0021390 | BeFree | Association study of FUT2 (rs601338) with celiac disease and inflammatory bowel disease in the Finnish population. | 0.000542884 | 2012 | FUT2;LOC105447645 | 19 | 48703417 | G | A |
| rs6062504 | 23128233 | 84619 | ZGPAT | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.122367032 | 2012 | ZGPAT | 20 | 63717555 | A | G,T |
| rs610325 | 17068223 | 6860 | SYT4 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 18 | 43373168 | G | T |
| rs6142618 | 23128233 | 9777 | TM9SF4 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | TM9SF4 | 20 | 32137845 | A | G |
| rs62636489 | 17509943 | 3856 | KRT8 | umls:C0021390 | BeFree | A novel but rare keratin-8 Arg341-to-Cys is identified in IBD patients. | 0.003810118 | 2007 | KRT8 | 12 | 52898860 | G | A |
| rs630923 | 23128233 | 643 | CXCR5 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | CXCR5 | 11 | 118883644 | C | A |
| rs6439924 | 17068223 | 64084 | CLSTN2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | CLSTN2;LOC105374132 | 3 | 140450815 | A | C |
| rs6478109 | 18758464 | 9966 | TNFSF15 | umls:C0021390 | GAD | [Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.] | 0.265003785 | 2008 | TNFSF15 | 9 | 114806486 | A | G |
| rs6478109 | 18758464 | 9966 | TNFSF15 | umls:C0021390 | GWASCAT | Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. | 0.265003785 | 2008 | TNFSF15 | 9 | 114806486 | A | G |
| rs6509542 | 17068223 | 10775 | POP4 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | LOC105372353 | 19 | 29662928 | T | C |
| rs6509616 | 17068223 | 9668 | ZNF432 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | ZNF432 | 19 | 52035025 | A | C |
| rs6545800 | 23128233 | 109 | ADCY3 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.120271442 | 2012 | ADCY3 | 2 | 24896016 | C | T |
| rs6569648 | 24911414 | 60498 | IGAN1 | umls:C0021390 | BeFree | These four variants are implicated in complex phenotypes such as ulcerative colitis and AIDS progression disease (rs10491434), Celiac disease (rs2762051), Crohn's disease, IgA nephropathy and early-onset inflammatory bowel disease (rs713875) and height (rs6569648). | 0.000271442 | 2014 | L3MBTL3 | 6 | 130027974 | C | T |
| rs6586030 | 23128233 | 81619 | TSPAN14 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | TSPAN14 | 10 | 80494291 | A | G |
| rs670523 | 23128233 | 6016 | RIT1 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | RIT1 | 1 | 155908941 | A | G |
| rs6733000 | 17068223 | 338 | APOB | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.004734064 | 2006 | NA | 2 | 21729332 | C | T |
| rs6792314 | 17068223 | 6304 | SATB1 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 3 | 18632501 | A | G |
| rs6817952 | 20848514 | 6373 | CXCL11 | umls:C0021390 | BeFree | CXCL11 rs6817952 nucleotide substitution was determined in 501 German individuals with IBD (336 CD, 165 UC) including 258 children and 243 adults as well as in 231 controls by a TaqMan SNP genotyping assay. | 0.002638474 | 2010 | ART3;CXCL11 | 4 | 76035890 | G | A,T |
| rs6828740 | 24487271 | 100270916 | RPSAP35 | umls:C0021390 | GWASCAT | Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients. | 0.12 | 2014 | NA | 4 | 117413463 | T | C |
| rs6828740 | 24487271 | 3683 | ITGAL | umls:C0021390 | BeFree | Genetic associations with EN included known IBD susceptibility genes (PTGER4 [P = 8.8 × 10], ITGAL [0.03]) as well as SOCS5 (9.64 × 10), CD207 (3.14 × 10), ITGB3 (7.56 × 10), and rs6828740 (4q26) (P < 5.0 × 10). | 0.002638474 | 2014 | NA | 4 | 117413463 | T | C |
| rs6828740 | 24487271 | 3690 | ITGB3 | umls:C0021390 | BeFree | Genetic associations with EN included known IBD susceptibility genes (PTGER4 [P = 8.8 × 10], ITGAL [0.03]) as well as SOCS5 (9.64 × 10), CD207 (3.14 × 10), ITGB3 (7.56 × 10), and rs6828740 (4q26) (P < 5.0 × 10). | 0.002638474 | 2014 | NA | 4 | 117413463 | T | C |
| rs6828740 | 24487271 | 9655 | SOCS5 | umls:C0021390 | BeFree | Genetic associations with EN included known IBD susceptibility genes (PTGER4 [P = 8.8 × 10], ITGAL [0.03]) as well as SOCS5 (9.64 × 10), CD207 (3.14 × 10), ITGB3 (7.56 × 10), and rs6828740 (4q26) (P < 5.0 × 10). | 0.000271442 | 2014 | NA | 4 | 117413463 | T | C |
| rs6828740 | 24487271 | 5734 | PTGER4 | umls:C0021390 | BeFree | Genetic associations with EN included known IBD susceptibility genes (PTGER4 [P = 8.8 × 10], ITGAL [0.03]) as well as SOCS5 (9.64 × 10), CD207 (3.14 × 10), ITGB3 (7.56 × 10), and rs6828740 (4q26) (P < 5.0 × 10). | 0.005276948 | 2014 | NA | 4 | 117413463 | T | C |
| rs6828740 | 24487271 | 50489 | CD207 | umls:C0021390 | BeFree | Genetic associations with EN included known IBD susceptibility genes (PTGER4 [P = 8.8 × 10], ITGAL [0.03]) as well as SOCS5 (9.64 × 10), CD207 (3.14 × 10), ITGB3 (7.56 × 10), and rs6828740 (4q26) (P < 5.0 × 10). | 0.000271442 | 2014 | NA | 4 | 117413463 | T | C |
| rs6863411 | 23128233 | 80762 | NDFIP1 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | NDFIP1 | 5 | 142133639 | A | T |
| rs6871626 | 23103228 | 3593 | IL12B | umls:C0021390 | 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. | 0.012354299 | 2012 | NA | 5 | 159399784 | C | A |
| rs6871626 | 23103228 | 8809 | IL18R1 | umls:C0021390 | 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. | 0.000542884 | 2012 | NA | 5 | 159399784 | C | A |
| rs6885006 | 17068223 | 7903 | ST8SIA4 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | LOC105379102 | 5 | 101693040 | T | G |
| rs6887695 | 22479607 | 149233 | IL23R | umls:C0021390 | BeFree | The IL12B SNP rs6887695 modulates the susceptibility and the phenotype of IBD, although the effect on IBD susceptibilty is less pronounced than that of IL23R gene variants. | 0.340104897 | 2012 | NA | 5 | 159395637 | G | C |
| rs713875 | 24911414 | 60498 | IGAN1 | umls:C0021390 | BeFree | These four variants are implicated in complex phenotypes such as ulcerative colitis and AIDS progression disease (rs10491434), Celiac disease (rs2762051), Crohn's disease, IgA nephropathy and early-onset inflammatory bowel disease (rs713875) and height (rs6569648). | 0.000271442 | 2014 | HORMAD2;LOC105372988 | 22 | 30196498 | C | G |
| rs7194886 | 17068223 | 124460 | SNX20 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 16 | 50691282 | C | T |
| rs7234029 | 22457781 | 5771 | PTPN2 | umls:C0021390 | BeFree | Genomic DNA from 2131 individuals of Caucasian origin (905 patients with CD, 318 patients with UC, and 908 healthy, unrelated controls) was analyzed for two SNPs in the PTPN2 region (rs2542151, rs7234029) for which associations with IBD were found in previous studies in other cohorts. | 0.123995683 | 2012 | PTPN2 | 18 | 12877061 | A | G |
| rs727088 | 23128233 | 10666 | CD226 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | CD226 | 18 | 69863203 | G | A |
| rs7282490 | 23128233 | 8209 | C21orf33 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | LOC105377139 | 21 | 44195858 | G | A |
| rs7298326 | 17068223 | 160335 | TMTC2 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | TMTC2 | 12 | 83131459 | A | G |
| rs7404095 | 23128233 | 5579 | PRKCB | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | PRKCB | 16 | 23853269 | T | C |
| rs744166 | 22065112 | 345611 | IRGM | umls:C0021390 | BeFree | We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958847, rs11747270 and rs13361189 within IRGM) in adult German inflammatory bowel disease patients (CD, n = 464; ulcerative colitis (UC), n = 292) and matched healthy controls (n = 508). | 0.13272543 | 2012 | STAT3 | 17 | 42362183 | A | G |
| rs7495132 | 23128233 | 64784 | CRTC3 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | CRTC3;CRTC3-AS1 | 15 | 90629669 | C | T |
| rs7528684 | 17389014 | 3123 | HLA-DRB1 | umls:C0021390 | BeFree | Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G, rs7528684 and -110C>T, rs11264799) in patients with IBD and their interaction with HLA-DRB1 and CARD15 in patients with UC and CD, respectively. | 0.010358398 | 2007 | FCRL3 | 1 | 157701026 | A | G |
| rs7528684 | 17389014 | 64127 | NOD2 | umls:C0021390 | BeFree | Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G, rs7528684 and -110C>T, rs11264799) in patients with IBD and their interaction with HLA-DRB1 and CARD15 in patients with UC and CD, respectively. | 0.396685649 | 2007 | FCRL3 | 1 | 157701026 | A | G |
| rs7554511 | 23128233 | 55765 | C1orf106 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.24 | 2012 | C1orf106 | 1 | 200908434 | C | A |
| rs7574865 | 20153791 | 6775 | STAT4 | umls:C0021390 | BeFree | The aim of the present study was to reevaluate the role of the STAT4 rs7574865 polymorphism on IBD. | 0.121628651 | 2010 | STAT4 | 2 | 191099907 | T | G |
| rs7574865 | 18759272 | 6775 | STAT4 | umls:C0021390 | BeFree | The association of STAT4 polymorphism rs7574865 with RA was validated in patients of Spanish origin (for T versus G, P = 1.2 x 10(-6), odds ratio [OR] 1.59, 95% confidence interval [95% CI] 1.31-1.92), and the association was described for the first time in both clinical forms of inflammatory bowel disease, Crohn's disease and ulcerative colitis (for T versus G, P = 0.006, OR 1.29, 95% CI 1.07-1.55), and in type 1 diabetes mellitus (for T versus G, P = 0.008, OR 1.36, 95% CI 1.07-1.71). | 0.121628651 | 2008 | STAT4 | 2 | 191099907 | T | G |
| rs7603516 | 17068223 | 401014 | TEX41 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | TEX41 | 2 | 144747126 | T | G |
| rs7608910 | 23128233 | 150962 | PUS10 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | PUS10 | 2 | 60977721 | A | G |
| rs763780 | 18088064 | 112744 | IL17F | umls:C0021390 | BeFree | Role of the novel Th17 cytokine IL-17F in inflammatory bowel disease (IBD): upregulated colonic IL-17F expression in active Crohn's disease and analysis of the IL17F p.His161Arg polymorphism in IBD. | 0.003724241 | 2008 | IL17F;LOC105375088 | 6 | 52236941 | T | C |
| rs7657746 | 23128233 | 84162 | KIAA1109 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | KIAA1109 | 4 | 122240464 | A | G |
| rs7658978 | 17068223 | 80216 | ALPK1 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | ALPK1 | 4 | 112423408 | A | C |
| rs7660673 | 17068223 | 442117 | GALNTL6 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | GALNTL6 | 4 | 172875881 | C | T |
| rs8005161 | 23128233 | 8477 | GPR65 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | GPR65 | 14 | 88006251 | C | T |
| rs8044151 | 17068223 | 29117 | BRD7 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 16 | 50489283 | G | A |
| rs8049439 | 19915574 | 11273 | ATXN2L | umls:C0021390 | GAD | [Common variants at five new loci associated with early-onset inflammatory bowel disease.] | 0.122367032 | 2009 | ATXN2L;NPIPB8 | 16 | 28826194 | T | C |
| rs8049439 | 19915574 | 11273 | ATXN2L | umls:C0021390 | GWASCAT | Common variants at five new loci associated with early-onset inflammatory bowel disease. | 0.122367032 | 2009 | ATXN2L;NPIPB8 | 16 | 28826194 | T | C |
| rs8049439 | 19915574 | 53342 | IL17D | umls:C0021390 | 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)). | 0.002985861 | 2009 | ATXN2L;NPIPB8 | 16 | 28826194 | T | C |
| rs8050910 | 17068223 | 339145 | FAM92B | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002638474 | 2006 | FAM92B | 16 | 85105567 | G | T |
| rs8054797 | 17068223 | 29117 | BRD7 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | NA | 16 | 50385293 | C | A |
| rs8060598 | 17068223 | 1540 | CYLD | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | CYLD | 16 | 50747891 | T | C |
| rs886898 | 17068223 | 775 | CACNA1C | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | CACNA1C | 12 | 2372770 | T | C |
| rs899305 | 17068223 | 54715 | RBFOX1 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | RBFOX1 | 16 | 7150562 | A | G |
| rs907611 | 23128233 | 4046 | LSP1 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | LSP1 | 11 | 1852842 | G | A |
| rs925255 | 23128233 | 403150 | FLJ31356 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | FOSL2;FLJ31356 | 2 | 28391927 | C | T |
| rs925255 | 23128233 | 2355 | FOSL2 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | FOSL2;FLJ31356 | 2 | 28391927 | C | T |
| rs9303363 | 17068223 | 252983 | STXBP4 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | STXBP4 | 17 | 55060613 | A | G |
| rs9358372 | 23128233 | 54901 | CDKAL1 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.124734064 | 2012 | CDKAL1 | 6 | 20812357 | G | A |
| rs937815 | 17068223 | 55205 | ZNF532 | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.002367032 | 2006 | ZNF532 | 18 | 58900674 | G | T |
| rs941823 | 23128233 | 646982 | LINC00598 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | LINC00598 | 13 | 40439840 | T | C |
| rs949978 | 17068223 | 338 | APOB | umls:C0021390 | GAD | [A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.] | 0.004734064 | 2006 | NA | 2 | 21727485 | A | G |
| rs9557195 | 23128233 | 1880 | GPR183 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | GPR183;UBAC2 | 13 | 99304368 | T | C |
| rs9557195 | 23128233 | 337867 | UBAC2 | umls:C0021390 | GWASCAT | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | 0.12 | 2012 | GPR183;UBAC2 | 13 | 99304368 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:132) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 1 | 1247494 | rs12103 | T | C | rs12103 | 23128233 | 8.00E-13 | NA | 1.1 | [1.06-1.14] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs12103-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 1 | 8021973 | rs35675666 | G | T | rs35675666 | 23128233 | 1.00E-15 | NA | 1.11 | [1.07-1.16] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs35675666-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 1 | 22702231 | rs12568930 | T | C | rs12568930 | 23128233 | 1.00E-17 | NA | 1.1 | [1.05-1.14] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs12568930-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 1 | 67681669 | rs7517847 | T | G | rs7517847 | 17068223 | 4.00E-13 | NA | 1.61 | [1.35-1.92] | 547 cases; 548 controls | NOPOP(1095) | ALL(1095) | NOPOP(1095) | ALL(1095) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs7517847-C | Research Support, N.I.H., Extramural | T | IL23R |
| 1 | 67705958 | rs11209026 | G | A | rs11209026 | 17068223 | 4.00E-11 | NA | 3.84 | [2.33-6.66] | 547 cases; 548 controls | NOPOP(1095) | ALL(1095) | NOPOP(1095) | ALL(1095) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs11209026-A | Research Support, N.I.H., Extramural | G | IL23R |
| 1 | 67705958 | rs11209026 | G | A | rs11209026 | 18758464 | 7.00E-11 | NA | 2.56 | [1.92-3.45] | 1,011 cases; 4,250 controls | NOPOP(5261) | ALL(5261) | NOPOP(5261) | ALL(5261) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 1 | 67705958 | rs11209026 | G | A | rs11209026 | 23128233 | 8.00E-161 | NA | 2.01 | [1.89-2.15] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs11209026-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 1 | 70995562 | rs2651244 | G | A | rs2651244 | 23128233 | 2.00E-08 | NA | 1.02 | [0.99-1.04] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2651244-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 1 | 151801680 | rs4845604 | G | A | rs4845604 | 23128233 | 4.00E-16 | NA | 1.14 | [1.10-1.19] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs4845604-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 1 | 155878732 | rs670523 | A | G | rs670523 | 23128233 | 6.00E-11 | NA | 1.06 | [1.03-1.09] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs670523-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 1 | 160856964 | rs4656958 | A | G | rs4656958 | 23128233 | 7.00E-09 | NA | 1.06 | [1.03-1.09] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs4656958-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 1 | 161479745 | rs1801274 | A | G | rs1801274 | 23128233 | 2.00E-38 | NA | 1.12 | [1.09-1.16] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1801274-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 1 | 197631141 | rs2488389 | G | A | rs2488389 | 23128233 | 8.00E-13 | NA | 1.12 | [1.08-1.15] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2488389-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 1 | 200877562 | rs7554511 | C | A | rs7554511 | 23128233 | 1.00E-32 | NA | 1.16 | [1.13-1.20] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs7554511-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 1 | 206939904 | rs3024505 | G | A | rs3024505 | 23128233 | 7.00E-42 | NA | 1.21 | [1.16-1.25] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs3024505-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 25118885 | rs6545800 | C | T | rs6545800 | 23128233 | 6.00E-16 | NA | 1.11 | [1.08-1.14] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs6545800-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 28614794 | rs925255 | C | T | rs925255 | 23128233 | 3.00E-15 | NA | 1.09 | [1.06-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs925255-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 43806918 | rs10495903 | C | T | rs10495903 | 23128233 | 8.00E-12 | NA | 1.09 | [1.04-1.13] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs10495903-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 61204856 | rs7608910 | A | G | rs7608910 | 23128233 | 9.00E-32 | NA | 1.14 | [1.11-1.17] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs7608910-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 65667272 | rs6740462 | C | A | rs6740462 | 23128233 | 2.00E-08 | NA | 1.08 | [1.05-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs6740462-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 103070568 | rs917997 | T | C | rs917997 | 23128233 | 3.00E-20 | NA | 1.1 | [1.07-1.14] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs917997-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 163110536 | rs2111485 | A | G | rs2111485 | 23128233 | 2.00E-08 | NA | 1.07 | [1.03-1.10] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2111485-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 191931464 | rs1517352 | A | C | rs1517352 | 23128233 | 3.00E-11 | NA | 1.08 | [1.05-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1517352-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 219151218 | rs2382817 | A | C | rs2382817 | 23128233 | 4.00E-12 | NA | 1.07 | [1.04-1.10] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2382817-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 2 | 241569692 | rs3749171 | C | T | rs3749171 | 23128233 | 3.00E-21 | NA | 1.14 | [1.09-1.18] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs3749171-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 3 | 18767404 | rs4256159 | C | T | rs4256159 | 23128233 | 9.00E-15 | NA | 1.11 | [1.06-1.15] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs4256159-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 3 | 49721532 | rs3197999 | G | A | rs3197999 | 23128233 | 1.00E-47 | NA | 1.18 | [1.14-1.22] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs3197999-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 4 | 74857708 | rs2472649 | A | G | rs2472649 | 23128233 | 3.00E-08 | NA | 1.1 | [1.05-1.15] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2472649-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 4 | 123161619 | rs7657746 | A | G | rs7657746 | 23128233 | 3.00E-13 | NA | 1.12 | [1.08-1.15] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs7657746-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 5 | 10695526 | rs2930047 | T | C | rs2930047 | 23128233 | 1.00E-08 | NA | 1.07 | [1.03-1.10] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2930047-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 5 | 40410584 | rs11742570 | T | C | rs11742570 | 23128233 | 2.00E-82 | NA | 1.2 | [1.16-1.23] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs11742570-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 5 | 96252803 | rs1363907 | G | A | rs1363907 | 23128233 | 6.00E-13 | NA | 1.07 | [1.04-1.10] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1363907-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 5 | 130017287 | rs4836519 | T | C | rs4836519 | 23128233 | 4.00E-10 | NA | 1.07 | [1.04-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs4836519-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 5 | 131770805 | rs2188962 | C | T | rs2188962 | 23128233 | 1.00E-52 | NA | 1.16 | [1.13-1.19] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2188962-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 5 | 141513204 | rs6863411 | A | T | rs6863411 | 23128233 | 4.00E-14 | NA | 1.09 | [1.06-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs6863411-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 5 | 150277909 | rs11741861 | A | G | rs11741861 | 23128233 | 3.00E-37 | NA | 1.25 | [1.19-1.31] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs11741861-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 5 | 158826792 | rs6871626 | C | A | rs6871626 | 23128233 | 1.00E-42 | NA | 1.18 | [1.15-1.22] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs6871626-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 5 | 159972021 | rs1592749 | T | G | rs1592749 | 20014019 | 1.00E-06 | Response to anti-TNF alpha therapy in inflammatory bowel disease | NA | NA | 94 pediatric CD and UC patients | NOPOP(94) | ALL(94) | NOPOP(94) | ALL(94) | Response to anti-TNF alpha therapy in inflammatory bowel disease | HPOID:0100281 | Chronic colitis | DOID:0050589 | inflammatory bowel disease | NA | NA | NA | NA | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 5 | 176794191 | rs12654812 | G | A | rs12654812 | 23128233 | 2.00E-08 | NA | 1.07 | [1.04-1.10] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs12654812-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 6 | 14719496 | rs17119 | G | A | rs17119 | 23128233 | 3.00E-11 | NA | 1.07 | [1.03-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs17119-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 6 | 20812588 | rs9358372 | G | A | rs9358372 | 23128233 | 9.00E-14 | NA | 1.09 | [1.06-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs9358372-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 6 | 32569691 | rs477515 | G | A | rs477515 | 18758464 | 1.00E-08 | 1.38 | [1.23-1.54] | 1,011 cases; 4,250 controls | NOPOP(5261) | ALL(5261) | NOPOP(5261) | ALL(5261) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study | |
| 6 | 32586854 | rs9271366 | G | A | rs9271366 | 21699788 | 2.00E-70 | UC vs. CD | 4.44 | [3.74-5.27] | 744 Japanese ancestry cases; 905 Japanese ancestry controls | Japanese(1649) | ALL(1649) | ASN(1649) | ALL(1649) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs9271366-C | Research Support, Non-U.S. Gov't | A | NA |
| 6 | 32586854 | rs9271366 | G | A | rs9271366 | 21699788 | 3.00E-31 | UC vs. Control | 2.41 | [2.07-2.81] | 744 Japanese ancestry cases; 905 Japanese ancestry controls | Japanese(1649) | ALL(1649) | ASN(1649) | ALL(1649) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs9271366-C | Research Support, Non-U.S. Gov't | A | NA |
| 6 | 32586854 | rs9271366 | G | A | rs9271366 | 21699788 | 8.00E-11 | CD vs. Control | 1.79 | [1.49-2.13] | 744 Japanese ancestry cases; 905 Japanese ancestry controls | Japanese(1649) | ALL(1649) | ASN(1649) | ALL(1649) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs9271366-T | Research Support, Non-U.S. Gov't | A | NA |
| 6 | 72406319 | rs4707930 | T | G | rs4707930 | 20014019 | 6.00E-06 | Response to anti-TNF alpha therapy in inflammatory bowel disease | NA | NA | 94 pediatric CD and UC patients | NOPOP(94) | ALL(94) | NOPOP(94) | ALL(94) | Response to anti-TNF alpha therapy in inflammatory bowel disease | HPOID:0100281 | Chronic colitis | DOID:0050589 | inflammatory bowel disease | NA | NA | NA | NA | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 90973159 | rs1847472 | C | A | rs1847472 | 23128233 | 2.00E-10 | NA | 1.06 | [1.03-1.09] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1847472-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 6 | 106435025 | rs6568421 | A | G | rs6568421 | 23128233 | 8.00E-20 | NA | 1.11 | [1.07-1.14] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs6568421-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 6 | 111848191 | rs3851228 | A | T | rs3851228 | 23128233 | 1.00E-13 | NA | 1.15 | [1.09-1.22] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs3851228-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 6 | 138006504 | rs6920220 | G | A | rs6920220 | 23128233 | 1.00E-21 | NA | 1.1 | [1.06-1.14] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs6920220-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 6 | 143898894 | rs12199775 | A | G | rs12199775 | 23128233 | 2.00E-08 | NA | 1.13 | [1.07-1.20] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs12199775-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 6 | 167373547 | rs1819333 | T | G | rs1819333 | 23128233 | 7.00E-21 | NA | 1.08 | [1.05-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1819333-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 7 | 50304461 | rs1456896 | C | T | rs1456896 | 23128233 | 7.00E-15 | NA | 1.09 | [1.05-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1456896-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 7 | 98759117 | rs9297145 | C | A | rs9297145 | 23128233 | 8.00E-12 | NA | 1.08 | [1.05-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs9297145-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 7 | 100315517 | rs1734907 | A | G | rs1734907 | 23128233 | 2.00E-13 | NA | 1.11 | [1.07-1.16] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1734907-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 7 | 116892846 | rs38904 | T | C | rs38904 | 23128233 | 1.00E-08 | NA | 1.05 | [1.02-1.09] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs38904-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 8 | 126534671 | rs921720 | A | G | rs921720 | 23128233 | 8.00E-20 | NA | 1.08 | [1.05-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs921720-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 8 | 130624105 | rs1991866 | G | C | rs1991866 | 23128233 | 2.00E-09 | NA | 1.05 | [1.02-1.08] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1991866-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 9 | 4981602 | rs10758669 | C | A | rs10758669 | 23128233 | 8.00E-45 | NA | 1.17 | [1.14-1.21] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs10758669-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 9 | 93928416 | rs4743820 | C | T | rs4743820 | 23128233 | 4.00E-09 | NA | 1.06 | [1.02-1.09] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs4743820-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 9 | 117553249 | rs4246905 | T | C | rs4246905 | 23128233 | 3.00E-32 | NA | 1.14 | [1.11-1.18] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs4246905-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 9 | 117568766 | rs6478109 | A | G | rs6478109 | 18758464 | 3.00E-08 | 1.36 | [1.22-1.52] | 1,011 cases; 4,250 controls | NOPOP(5261) | ALL(5261) | NOPOP(5261) | ALL(5261) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study | |
| 9 | 117592638 | rs2006996 | T | C | rs2006996 | 21699788 | 4.00E-13 | UC vs. CD | 1.67 | [1.47-1.92] | 744 Japanese ancestry cases; 905 Japanese ancestry controls | Japanese(1649) | ALL(1649) | ASN(1649) | ALL(1649) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2006996-T | Research Support, Non-U.S. Gov't | T | NA |
| 9 | 117592638 | rs2006996 | T | C | rs2006996 | 21699788 | 4.00E-16 | CD vs. Control | 1.75 | [1.53-1.99] | 744 Japanese ancestry cases; 905 Japanese ancestry controls | Japanese(1649) | ALL(1649) | ASN(1649) | ALL(1649) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2006996-C | Research Support, Non-U.S. Gov't | T | NA |
| 9 | 139266405 | rs10781499 | G | A | rs10781499 | 23128233 | 4.00E-56 | NA | 1.19 | [1.15-1.22] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs10781499-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 10 | 6081230 | rs12722515 | C | A | rs12722515 | 23128233 | 4.00E-10 | NA | 1.1 | [1.06-1.15] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs12722515-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 10 | 30728101 | rs1042058 | T | C | rs1042058 | 23128233 | 6.00E-11 | NA | 1.08 | [1.04-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1042058-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 10 | 35295431 | rs11010067 | C | G | rs11010067 | 23128233 | 2.00E-25 | NA | 1.12 | [1.08-1.15] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs11010067-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 10 | 59997926 | rs2790216 | G | A | rs2790216 | 23128233 | 8.00E-09 | NA | 1.07 | [1.03-1.10] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2790216-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 10 | 64445564 | rs10761659 | A | G | rs10761659 | 23128233 | 6.00E-46 | NA | 1.17 | [1.13-1.20] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs10761659-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 10 | 75673101 | rs2227564 | T | C | rs2227564 | 23128233 | 7.00E-10 | NA | 1.08 | [1.05-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2227564-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 10 | 81032532 | rs1250546 | A | G | rs1250546 | 23128233 | 3.00E-18 | NA | 1.1 | [1.06-1.13] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1250546-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 10 | 81060317 | rs1250550 | C | A | rs1250550 | 19915574 | 6.00E-09 | NA | 1.16 | [1.09-1.25] | 2,413 European ancestry cases; 6,158 European ancestry controls | European(8571) | ALL(8571) | EUR(8571) | ALL(8571) | Inflammatory bowel disease (early onset) | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 10 | 82254047 | rs6586030 | A | G | rs6586030 | 23128233 | 9.00E-16 | NA | 1.12 | [1.08-1.16] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs6586030-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 10 | 94436851 | rs7911264 | T | C | rs7911264 | 23128233 | 3.00E-08 | NA | 1.07 | [1.03-1.10] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs7911264-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 10 | 101284237 | rs4409764 | T | G | rs4409764 | 23128233 | 1.00E-54 | NA | 1.18 | [1.15-1.22] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs4409764-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 11 | 1874072 | rs907611 | G | A | rs907611 | 23128233 | 3.00E-10 | NA | 1.07 | [1.03-1.10] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs907611-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 11 | 58339124 | rs10896794 | T | C | rs10896794 | 23128233 | 7.00E-10 | NA | 1.08 | [1.04-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs10896794-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 11 | 60776209 | rs11230563 | C | T | rs11230563 | 23128233 | 9.00E-13 | NA | 1.09 | [1.05-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs11230563-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 11 | 61564299 | rs4246215 | G | T | rs4246215 | 23128233 | 2.00E-15 | NA | 1.08 | [1.05-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs4246215-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 11 | 64150370 | rs559928 | T | C | rs559928 | 23128233 | 4.00E-11 | NA | 1.1 | [1.06-1.14] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs559928-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 11 | 65656564 | rs2231884 | C | T | rs2231884 | 23128233 | 3.00E-10 | NA | 1.08 | [1.04-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2231884-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 11 | 76299194 | rs2155219 | G | T | rs2155219 | 23128233 | 4.00E-36 | NA | 1.15 | [1.12-1.19] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2155219-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 11 | 87125438 | rs6592362 | A | G | rs6592362 | 23128233 | 2.00E-08 | NA | 1.08 | [1.05-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs6592362-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 11 | 118754353 | rs630923 | C | A | rs630923 | 23128233 | 7.00E-09 | NA | 1.07 | [1.04-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs630923-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 12 | 12657513 | rs11612508 | A | G | rs11612508 | 23128233 | 1.00E-08 | NA | 1.06 | [1.02-1.09] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs11612508-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 12 | 40792300 | rs11564258 | G | A | rs11564258 | 23128233 | 6.00E-29 | NA | 1.33 | [1.22-1.46] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs11564258-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 12 | 48208368 | rs11168249 | T | C | rs11168249 | 23128233 | 8.00E-09 | NA | 1.05 | [1.02-1.08] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs11168249-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 12 | 68500075 | rs7134599 | G | A | rs7134599 | 23128233 | 9.00E-32 | NA | 1.1 | [1.06-1.13] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs7134599-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 13 | 27531267 | rs17085007 | T | C | rs17085007 | 23128233 | 3.00E-19 | NA | 1.11 | [1.06-1.15] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs17085007-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 13 | 41013977 | rs941823 | T | C | rs941823 | 23128233 | 2.00E-14 | NA | 1.07 | [1.04-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs941823-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 13 | 79888476 | rs1155848 | T | C | rs1155848 | 20014019 | 5.00E-07 | Response to anti-TNF alpha therapy in inflammatory bowel disease | NA | NA | 94 pediatric CD and UC patients | NOPOP(94) | ALL(94) | NOPOP(94) | ALL(94) | Response to anti-TNF alpha therapy in inflammatory bowel disease | HPOID:0100281 | Chronic colitis | DOID:0050589 | inflammatory bowel disease | NA | NA | NA | NA | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 13 | 99956622 | rs9557195 | T | C | rs9557195 | 23128233 | 2.00E-14 | NA | 1.11 | [1.08-1.15] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs9557195-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 14 | 69273905 | rs194749 | T | C | rs194749 | 23128233 | 3.00E-10 | NA | 1.08 | [1.04-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs194749-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 14 | 75701221 | rs4899554 | C | T | rs4899554 | 23128233 | 3.00E-08 | NA | 1.08 | [1.04-1.13] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs4899554-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 14 | 88472595 | rs8005161 | C | T | rs8005161 | 23128233 | 2.00E-14 | NA | 1.15 | [1.10-1.21] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs8005161-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 15 | 67442596 | rs17293632 | C | T | rs17293632 | 23128233 | 6.00E-16 | NA | 1.07 | [1.03-1.10] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs17293632-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 15 | 91172901 | rs7495132 | C | T | rs7495132 | 23128233 | 9.00E-11 | NA | 1.13 | [1.08-1.19] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs7495132-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 16 | 11373320 | rs529866 | C | T | rs529866 | 23128233 | 2.00E-16 | NA | 1.12 | [1.09-1.17] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs529866-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 16 | 23864590 | rs7404095 | T | C | rs7404095 | 23128233 | 1.00E-09 | NA | 1.06 | [1.03-1.09] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs7404095-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 16 | 28517709 | rs26528 | T | C | rs26528 | 23128233 | 1.00E-21 | NA | 1.1 | [1.07-1.13] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs26528-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 16 | 28837515 | rs8049439 | T | C | rs8049439 | 19915574 | 2.00E-09 | NA | 1.14 | [1.00-1.30] | 2,413 European ancestry cases; 6,158 European ancestry controls | European(8571) | ALL(8571) | EUR(8571) | ALL(8571) | Inflammatory bowel disease (early onset) | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs8049439-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 16 | 50756774 | rs5743289 | C | G,T | rs5743289 | 18758464 | 4.00E-10 | NA | 1.46 | [1.29-1.64] | 1,011 cases; 4,250 controls | NOPOP(5261) | ALL(5261) | NOPOP(5261) | ALL(5261) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs5743289-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 16 | 50756881 | rs2076756 | A | G | rs2076756 | 17068223 | 5.00E-10 | NA | NA | NA | 547 cases; 548 controls | NOPOP(1095) | ALL(1095) | NOPOP(1095) | ALL(1095) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | A | NOD2 |
| 16 | 86011337 | rs10521318 | C | T | rs10521318 | 23128233 | 1.00E-09 | NA | 1.16 | [1.09-1.22] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs10521318-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 17 | 32593974 | rs3091316 | G | A | rs3091316 | 23128233 | 1.00E-26 | NA | 1.12 | [1.09-1.16] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs3091316-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 17 | 37912377 | rs12946510 | C | T | rs12946510 | 23128233 | 4.00E-38 | NA | 1.16 | [1.12-1.19] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs12946510-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 17 | 40527544 | rs12942547 | A | G | rs12942547 | 23128233 | 6.00E-22 | NA | 1.1 | [1.07-1.14] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs12942547-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 17 | 57963537 | rs1292053 | A | G | rs1292053 | 23128233 | 9.00E-13 | NA | 1.08 | [1.04-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1292053-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 18 | 12809340 | rs1893217 | A | G | rs1893217 | 23128233 | 3.00E-26 | NA | 1.17 | [1.13-1.22] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1893217-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 18 | 46395022 | rs7240004 | A | G | rs7240004 | 23128233 | 1.00E-09 | NA | 1.06 | [1.03-1.09] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs7240004-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 18 | 67530439 | rs727088 | G | A | rs727088 | 23128233 | 5.00E-09 | NA | 1.08 | [1.05-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs727088-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 19 | 10512911 | rs11879191 | G | A | rs11879191 | 23128233 | 2.00E-18 | NA | 1.14 | [1.10-1.18] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs11879191-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 19 | 33731551 | rs17694108 | G | A | rs17694108 | 23128233 | 6.00E-15 | NA | 1.1 | [1.06-1.14] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs17694108-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 19 | 33750314 | rs10500264 | G | A | rs10500264 | 19915574 | 4.00E-10 | NA | 1.21 | [1.11-1.31] | 2,413 European ancestry cases; 6,158 European ancestry controls | European(8571) | ALL(8571) | EUR(8571) | ALL(8571) | Inflammatory bowel disease (early onset) | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 19 | 55383051 | rs11672983 | G | A | rs11672983 | 23128233 | 7.00E-11 | NA | 1.09 | [1.05-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs11672983-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 20 | 30725648 | rs6142618 | A | G | rs6142618 | 23128233 | 6.00E-10 | NA | 1.07 | [1.04-1.10] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs6142618-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 20 | 31376282 | rs4911259 | T | G | rs4911259 | 23128233 | 1.00E-09 | NA | 1.08 | [1.04-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs4911259-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 20 | 44742064 | rs1569723 | C | A | rs1569723 | 23128233 | 1.00E-13 | NA | 1.09 | [1.06-1.13] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs1569723-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 20 | 48955424 | rs913678 | T | C | rs913678 | 23128233 | 5.00E-08 | NA | 1.06 | [1.02-1.09] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs913678-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 20 | 57824309 | rs259964 | A | G | rs259964 | 23128233 | 1.00E-12 | NA | 1.09 | [1.05-1.12] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs259964-A | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 20 | 62343956 | rs2315008 | T | G | rs2315008 | 18758464 | 9.00E-15 | NA | 1.36 | [1.05-1.76] | 1,011 cases; 4,250 controls | NOPOP(5261) | ALL(5261) | NOPOP(5261) | ALL(5261) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2315008-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 20 | 62348907 | rs6062504 | A | G | rs6062504 | 23128233 | 1.00E-23 | NA | 1.1 | [1.07-1.14] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs6062504-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 21 | 16817938 | rs2823286 | G | A | rs2823286 | 23128233 | 9.00E-30 | NA | 1.16 | [1.12-1.19] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2823286-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 21 | 40465534 | rs2836878 | G | A | rs2836878 | 18758464 | 4.00E-12 | NA | 1.41 | [1.08-1.84] | 1,011 cases; 4,250 controls | NOPOP(5261) | ALL(5261) | NOPOP(5261) | ALL(5261) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
| 21 | 40465534 | rs2836878 | G | A | rs2836878 | 23128233 | 5.00E-48 | NA | 1.18 | [1.14-1.22] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2836878-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 21 | 45615741 | rs7282490 | G | A | rs7282490 | 23128233 | 2.00E-26 | NA | 1.11 | [1.07-1.14] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs7282490-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 22 | 21922904 | rs2266959 | G | T | rs2266959 | 23128233 | 1.00E-16 | NA | 1.11 | [1.07-1.15] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2266959-T | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 22 | 30486826 | rs2412970 | A | G | rs2412970 | 23128233 | 3.00E-14 | NA | 1.08 | [1.05-1.11] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2412970-G | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| 22 | 30529631 | rs2412973 | C | A | rs2412973 | 19915574 | 2.00E-09 | NA | 1.15 | [1.01-1.31] | 2,413 European ancestry cases; 6,158 European ancestry controls | European(8571) | ALL(8571) | EUR(8571) | ALL(8571) | Inflammatory bowel disease (early onset) | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 22 | 39659773 | rs2413583 | C | T | rs2413583 | 23128233 | 4.00E-33 | NA | 1.21 | [1.16-1.26] | 12,924 European ancestry cases; 21,442 European ancestry controls | European(34366) | ALL(34366) | EUR(34366) | ALL(34366) | Inflammatory bowel disease | HPOID:0004386 | Gastrointestinal inflammation | DOID:0050589 | inflammatory bowel disease | D015212 | Inflammatory Bowel Diseases | EFOID:0003767 | inflammatory bowel disease | Gastrointestinal infection | rs2413583-C | Research Support, N.I.H., Extramural | Meta-Analysis | Research Support, Non-U.S. Gov't |
| X | 133322604 | rs765132 | C | T | rs765132 | 20014019 | 1.00E-06 | Response to anti-TNF alpha therapy in inflammatory bowel disease | NA | NA | 94 pediatric CD and UC patients | NOPOP(94) | ALL(94) | NOPOP(94) | ALL(94) | Response to anti-TNF alpha therapy in inflammatory bowel disease | HPOID:0100281 | Chronic colitis | DOID:0050589 | inflammatory bowel disease | NA | NA | NA | NA | Gastrointestinal infection | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:4) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0021390 | methotrexate | D008727 | 1959/5/2 | inflammatory bowel diseases | MESH:D015212 | therapeutic | 1450620 | ||
| C0021390 | nabumetone | C035605 | 42924-53-8 | inflammatory bowel diseases | MESH:D015212 | marker/mechanism | 16469680 | ||
| C0021390 | omeprazole | D009853 | 73590-58-6 | inflammatory bowel diseases | MESH:D015212 | therapeutic | 8071518 | ||
| C0021390 | rifaximin | C042734 | - | inflammatory bowel diseases | MESH:D015212 | therapeutic | 22790967 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |