Tag

Inflammatory Bowel Disease

27 genetic variants with this tag.

RSID	Gene	Description	Category
rs104895431	NOD2	Rare NOD2 missense variant (Ser431Leu) that reduces NF-κB activation in respo...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Strong
rs104895467	NOD2 NOD2 N852S	Rare NOD2 missense variant (Asn852Ser) that impairs innate immune sensing of ...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Strong
rs12188300	IL12B	Near-gene variant at the IL12B locus associated with psoriasis risk through a...	Psoriasis & Spondyloarthropathy	Inflammatory Bowel Disease	Moderate
rs10758669	JAK2	Intergenic variant near JAK2 that increases JAK2 expression and JAK-STAT sign...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Strong
rs1861494	IFNG IFNG Interferon Gamma	Intronic IFNG variant that modulates interferon-gamma expression, with the T ...	Interferon Signaling & Systemic Autoimmune	Inflammatory Bowel Disease	Moderate
rs17085007	USP12	Regulatory variant at the chromosome 13q12 locus that tags a region upstream ...	Autoimmune Tolerance & T-Cell Regulation	Inflammatory Bowel Disease	Strong
rs2043211	CARD8 C10X	Truncating variant in the NLRP3 inflammasome brake that abolishes CARD8's cas...	TNF, NF-kB & Inflammatory Cytokines	Inflammatory Bowel Disease	Moderate
rs2066808	IL23A	Intronic variant near IL23A encoding the IL-23 p19 subunit; G allele increase...	Psoriasis & Spondyloarthropathy	Inflammatory Bowel Disease	Strong
rs2066844	NOD2 R702W	Missense variant in the NOD2 gene that increases Crohn's disease risk, partic...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Established
rs2066845	NOD2 G908R	NOD2 bacterial sensor variant that increases Crohn's disease risk by impairin...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Established
rs2066847	NOD2 3020insC (1007fs)	The most important Crohn's disease risk variant worldwide — a frameshift inse...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Established
rs3212227	IL12B 3'UTR	IL12B 3'-UTR variant forming the canonical two-SNP psoriasis risk haplotype w...	Psoriasis & Spondyloarthropathy	Inflammatory Bowel Disease	Strong
rs2241879	ATG16L1	Intronic ATG16L1 variant in tight LD with the T300A coding variant; the G ris...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Strong
rs3213094	IL12B Promoter-region	Intronic IL12B variant in linkage with the promoter-regulatory haplotype; T a...	Psoriasis & Spondyloarthropathy	Inflammatory Bowel Disease	Moderate
rs2241880	ATG16L1 T300A	Autophagy gene variant affecting bacterial clearance in gut epithelial cells,...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Established
rs2301436	FGFR1OP	Intronic variant in FGFR1OP (CEP43) at the RNASET2-FGFR1OP-CCR6 autoimmune su...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Strong
rs33996649	PTPN22 R263Q	Protective loss-of-function variant in the PTPN22 catalytic domain that reduc...	Autoimmune Tolerance & T-Cell Regulation	Inflammatory Bowel Disease	Strong
rs3774937	NFKB1 NFKB1 promoter/regulatory variant	Intronic NFKB1 variant with genome-wide significant associations with ulcerat...	Innate Immunity & Infection Defense	Inflammatory Bowel Disease	Strong
rs2631367	SLC22A5 OCTN2 -207C>G	Promoter variant in SLC22A5 (OCTN2) that reduces carnitine transporter expres...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Strong
rs3748067	IL17A	3'UTR variant in IL-17A that alters post-transcriptional regulation via miRNA...	TNF, NF-kB & Inflammatory Cytokines	Inflammatory Bowel Disease	Moderate
rs4077515	CARD9 S12N	Gain-of-function missense variant in the CARD9 adaptor protein that enhances ...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Strong
rs6887695	IL12B Upstream regulatory	Upstream regulatory variant ~60 kb 5' of IL12B, forming the canonical two-SNP...	Psoriasis & Spondyloarthropathy	Inflammatory Bowel Disease	Strong
rs4958847	IRGM	Intronic IRGM variant that impairs autophagy-mediated clearance of intracellu...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Strong
rs7746808	IL23A	Intergenic variant near the IL23A locus associated with psoriasis and psoriat...	Psoriasis & Spondyloarthropathy	Inflammatory Bowel Disease	Emerging
rs6693831	IL23R	Intronic IL23R variant where the minor T allele is associated with increased ...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Moderate
rs6908425	CDKAL1	Intronic variant in CDKAL1, a tRNA methylthiotransferase gene; the C allele i...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Strong
rs6974491	ELMO1	Intronic ELMO1 variant acting as an eQTL that modulates engulfment and cell m...	IBD & Mucosal Immunity	Inflammatory Bowel Disease	Moderate