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	Crohn's Disease	Strong
rs104895431	NOD2	Rare NOD2 missense variant (Ser431Leu) that reduces NF-κB activation in respo...	IBD & Mucosal Immunity	Crohn's Disease	Strong
rs104895444	NOD2	Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; c...	IBD & Mucosal Immunity	Crohn's Disease	Moderate
rs104895467	NOD2 NOD2 N852S	Rare NOD2 missense variant (Asn852Ser) that impairs innate immune sensing of ...	IBD & Mucosal Immunity	Crohn's Disease	Strong
rs10758669	JAK2	Intergenic variant near JAK2 that increases JAK2 expression and JAK-STAT sign...	IBD & Mucosal Immunity	Crohn's Disease	Strong
rs11229030	PRG2	Intergenic tag SNP in the PRG2/PRG3 eosinophil major basic protein gene clust...	Allergy & Atopic Disease	Crohn's Disease	Moderate
rs11362	DEFB1 G-20A	5' UTR variant in the beta-defensin 1 gene that reduces antimicrobial peptide...	IBD & Mucosal Immunity	Crohn's Disease	Moderate
rs1799724	TNF -857C>T	TNF promoter variant that disrupts an OCT-1 binding site, altering TNF-alpha ...	TNF, NF-kB & Inflammatory Cytokines	Crohn's Disease	Moderate
rs11465770	IL23R	Intronic IL23R variant whose minor T allele tags a protective haplotype that ...	IBD & Mucosal Immunity	Crohn's Disease	Moderate
rs116855232	NUDT15 Arg139Cys	Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc...	Pharmacogenomics	Crohn's Disease	Established
rs2066847	NOD2 3020insC (1007fs)	The most important Crohn's disease risk variant worldwide — a frameshift inse...	IBD & Mucosal Immunity	Crohn's Disease	Established
rs2241879	ATG16L1	Intronic ATG16L1 variant in tight LD with the T300A coding variant; the G ris...	IBD & Mucosal Immunity	Crohn's Disease	Strong
rs2301436	FGFR1OP	Intronic variant in FGFR1OP (CEP43) at the RNASET2-FGFR1OP-CCR6 autoimmune su...	IBD & Mucosal Immunity	Crohn's Disease	Strong
rs3197999	MST1 R689C	Macrophage-stimulating protein variant affecting innate immune response and I...	IBD & Mucosal Immunity	Crohn's Disease	Strong
rs4077515	CARD9 S12N	Gain-of-function missense variant in the CARD9 adaptor protein that enhances ...	IBD & Mucosal Immunity	Crohn's Disease	Strong
rs4562997	SMAD3	Second intronic enhancer variant in SMAD3 that modulates TGF-beta effector si...	IBD & Mucosal Immunity	Crohn's Disease	Moderate
rs7234029	PTPN2	Intronic PTPN2 variant that reduces expression of T-cell protein tyrosine pho...	Autoimmune Tolerance & T-Cell Regulation	Crohn's Disease	Strong
rs492602	FUT2 FUT2 secretor status proxy	A synonymous FUT2 proxy variant in strong LD with the W143X nonsense allele (...	IBD & Mucosal Immunity	Crohn's Disease	Strong
rs4958847	IRGM	Intronic IRGM variant that impairs autophagy-mediated clearance of intracellu...	IBD & Mucosal Immunity	Crohn's Disease	Strong
rs17293632	SMAD3	Intronic regulatory variant in SMAD3 that alters TGF-beta effector signaling ...	Allergy & Atopic Disease	Crohn's Disease	Strong
rs6908425	CDKAL1	Intronic variant in CDKAL1, a tRNA methylthiotransferase gene; the C allele i...	IBD & Mucosal Immunity	Crohn's Disease	Strong
rs2872507	IKZF3	17q21 regulatory variant in the IKZF3-ORMDL3-GSDMB locus with opposite effect...	Allergy & Atopic Disease	Crohn's Disease	Strong