Tag
Crohn's Disease
22 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs10045431 | IL12B | Upstream tagging SNP at the IL12B locus that marks the Th1/Th17 risk haplotyp... | Psoriasis & Spondyloarthropathy | Strong | |
| rs104895431 | NOD2 | Rare NOD2 missense variant (Ser431Leu) that reduces NF-κB activation in respo... | IBD & Mucosal Immunity | Strong | |
| rs104895444 | NOD2 | Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; c... | IBD & Mucosal Immunity | Moderate | |
| rs104895467 | NOD2 NOD2 N852S | Rare NOD2 missense variant (Asn852Ser) that impairs innate immune sensing of ... | IBD & Mucosal Immunity | Strong | |
| rs10758669 | JAK2 | Intergenic variant near JAK2 that increases JAK2 expression and JAK-STAT sign... | IBD & Mucosal Immunity | Strong | |
| rs11229030 | PRG2 | Intergenic tag SNP in the PRG2/PRG3 eosinophil major basic protein gene clust... | Allergy & Atopic Disease | Moderate | |
| rs11362 | DEFB1 G-20A | 5' UTR variant in the beta-defensin 1 gene that reduces antimicrobial peptide... | IBD & Mucosal Immunity | Moderate | |
| rs1799724 | TNF -857C>T | TNF promoter variant that disrupts an OCT-1 binding site, altering TNF-alpha ... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs11465770 | IL23R | Intronic IL23R variant whose minor T allele tags a protective haplotype that ... | IBD & Mucosal Immunity | Moderate | |
| rs116855232 | NUDT15 Arg139Cys | Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc... | Pharmacogenomics | Established | |
| rs2066847 | NOD2 3020insC (1007fs) | The most important Crohn's disease risk variant worldwide — a frameshift inse... | IBD & Mucosal Immunity | Established | |
| rs2241879 | ATG16L1 | Intronic ATG16L1 variant in tight LD with the T300A coding variant; the G ris... | IBD & Mucosal Immunity | Strong | |
| 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 | |
| rs4077515 | CARD9 S12N | Gain-of-function missense variant in the CARD9 adaptor protein that enhances ... | IBD & Mucosal Immunity | Strong | |
| rs4562997 | SMAD3 | Second intronic enhancer variant in SMAD3 that modulates TGF-beta effector si... | IBD & Mucosal Immunity | Moderate | |
| rs7234029 | PTPN2 | Intronic PTPN2 variant that reduces expression of T-cell protein tyrosine pho... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs492602 | FUT2 FUT2 secretor status proxy | A synonymous FUT2 proxy variant in strong LD with the W143X nonsense allele (... | IBD & Mucosal Immunity | Strong | |
| rs4958847 | IRGM | Intronic IRGM variant that impairs autophagy-mediated clearance of intracellu... | IBD & Mucosal Immunity | Strong | |
| rs17293632 | SMAD3 | Intronic regulatory variant in SMAD3 that alters TGF-beta effector signaling ... | Allergy & Atopic Disease | Strong | |
| rs6908425 | CDKAL1 | Intronic variant in CDKAL1, a tRNA methylthiotransferase gene; the C allele i... | IBD & Mucosal Immunity | Strong | |
| rs2872507 | IKZF3 | 17q21 regulatory variant in the IKZF3-ORMDL3-GSDMB locus with opposite effect... | Allergy & Atopic Disease | Strong |