Tag
IBD
26 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs10045431 | IL12B | Upstream tagging SNP at the IL12B locus; the C allele is associated with incr... | Psoriasis & Spondyloarthropathy | Strong | |
| rs1004819 | IL23R | Intronic IL-23 receptor variant that increases susceptibility to ankylosing s... | IBD & Mucosal Immunity | Strong | |
| rs104895444 | NOD2 | Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; c... | IBD & Mucosal Immunity | Moderate | |
| rs1050152 | SLC22A4 OCTN1 L503F | Missense variant in SLC22A4 encoding the organic cation/ergothioneine transpo... | Allergy & Atopic Disease | Strong | |
| rs10489629 | IL23R | Intronic IL23R variant in LD block 2 where the T allele is associated with in... | IBD & Mucosal Immunity | Strong | |
| rs10758669 | JAK2 | Intergenic variant near JAK2 that increases JAK2 expression and JAK-STAT sign... | IBD & Mucosal Immunity | Strong | |
| rs10889677 | IL23R | 3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — th... | IBD & Mucosal Immunity | Strong | |
| rs11229030 | PRG2 | Intergenic tag SNP in the PRG2/PRG3 eosinophil major basic protein gene clust... | Allergy & Atopic Disease | Moderate | |
| rs11465804 | IL23R | Intronic IL23R variant in strong linkage disequilibrium with the functional R... | IBD & Mucosal Immunity | Strong | |
| rs116855232 | NUDT15 Arg139Cys | Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc... | Pharmacogenomics | Established | |
| rs2201841 | IL23R | Intronic variant in the IL-23 receptor gene associated with increased risk of... | Psoriasis & Spondyloarthropathy | Strong | |
| rs13361189 | IRGM −4299T>C | Autophagy regulator affecting bacterial clearance in the gut and Crohn's dise... | IBD & Mucosal Immunity | Strong | |
| rs1343151 | IL23R | Intronic IL23R variant whose minor A allele tags the protective haplotype for... | IBD & Mucosal Immunity | Moderate | |
| rs1495965 | IL23R | Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated ... | IBD & Mucosal Immunity | Strong | |
| rs35829419 | NLRP3 Q705K | Gain-of-function missense variant in the NLRP3 inflammasome sensor that eleva... | Innate Immunity & Infection Defense | Moderate | |
| rs2301436 | FGFR1OP | Intronic variant in FGFR1OP (CEP43) at the RNASET2-FGFR1OP-CCR6 autoimmune su... | IBD & Mucosal Immunity | Strong | |
| rs3197999 | MST1 R689C | Macrophage-stimulating protein variant affecting innate immune response and I... | IBD & Mucosal Immunity | Strong | |
| rs3816769 | STAT3 STAT3 co-variant | Intronic STAT3 variant where the T allele (reference, ~66%) increases risk fo... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs4562997 | SMAD3 | Second intronic enhancer variant in SMAD3 that modulates TGF-beta effector si... | IBD & Mucosal Immunity | Moderate | |
| rs7234029 | PTPN2 | Intronic PTPN2 variant increasing susceptibility to Crohn's disease, rheumato... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs6693831 | IL23R | Intronic IL23R variant where the minor T allele is associated with increased ... | IBD & Mucosal Immunity | Moderate | |
| rs689466 | PTGS2 A-1195G | Promoter variant in the PTGS2/COX-2 gene that reduces baseline COX-2 expressi... | IBD & Mucosal Immunity | Moderate | |
| rs7753394 | TNFAIP3 | Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3 | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs6908425 | CDKAL1 | Intronic variant in CDKAL1, a tRNA methylthiotransferase gene; the C allele i... | IBD & Mucosal Immunity | Strong | |
| rs7517847 | IL23R | Intronic IL23R variant in which the T allele increases susceptibility to Croh... | IBD & Mucosal Immunity | Strong | |
| rs7927997 | EMSY EMSY/C11orf30 Atopy Regulatory Variant | Regulatory variant near C11orf30 (EMSY) on chromosome 11q13.5 | Allergy & Atopic Disease | Strong |