Tag

IBD

36 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	IBD	Strong
rs1004819	IL23R	Intronic IL-23 receptor variant that increases susceptibility to ankylosing s...	IBD & Mucosal Immunity	IBD	Strong
rs104895444	NOD2	Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; c...	IBD & Mucosal Immunity	IBD	Moderate
rs1050152	SLC22A4 OCTN1 L503F	Missense variant in SLC22A4 encoding the organic cation/ergothioneine transpo...	Allergy & Atopic Disease	IBD	Strong
rs10489629	IL23R	Intronic IL23R variant in LD block 2 where the T allele is associated with in...	IBD & Mucosal Immunity	IBD	Strong
rs10751659	PRG3 PRG3 Eosinophil Major Basic Protein Homologue Variant	Intronic variant in the PRG3 gene encoding eosinophil major basic protein hom...	Allergy & Atopic Disease	IBD	Emerging
rs10758669	JAK2	Intergenic variant near JAK2 that increases JAK2 expression and JAK-STAT sign...	IBD & Mucosal Immunity	IBD	Strong
rs10889677	IL23R	3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — th...	IBD & Mucosal Immunity	IBD	Strong
rs11229030	PRG2	Intergenic tag SNP in the PRG2/PRG3 eosinophil major basic protein gene clust...	Allergy & Atopic Disease	IBD	Moderate
rs11465770	IL23R	Intronic IL23R variant whose minor T allele tags a protective haplotype that ...	IBD & Mucosal Immunity	IBD	Moderate
rs11465804	IL23R	Intronic IL23R variant in strong linkage disequilibrium with the functional R...	IBD & Mucosal Immunity	IBD	Strong
rs17085007	USP12	Regulatory variant at the chromosome 13q12 locus that tags a region upstream ...	Autoimmune Tolerance & T-Cell Regulation	IBD	Strong
rs116855232	NUDT15 Arg139Cys	Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc...	Pharmacogenomics	IBD	Established
rs13361189	IRGM −4299T>C	Autophagy regulator affecting bacterial clearance in the gut and Crohn's dise...	IBD & Mucosal Immunity	IBD	Strong
rs1343151	IL23R	Intronic IL23R variant whose minor A allele tags the protective haplotype for...	IBD & Mucosal Immunity	IBD	Moderate
rs2108225	SLC26A3 SLC26A3 Ulcerative Colitis Susceptibility Variant	Regulatory variant at the SLC26A3 locus associated with ulcerative colitis su...	Autoimmune Tolerance & T-Cell Regulation	IBD	Moderate
rs2201841	IL23R	Intronic variant in the IL-23 receptor gene associated with increased risk of...	Psoriasis & Spondyloarthropathy	IBD	Strong
rs1495965	IL23R	Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated ...	IBD & Mucosal Immunity	IBD	Strong
rs1800972	DEFB1 DEFB1 -44C>G	Promoter variant in the beta-defensin 1 gene that reduces constitutive hBD-1 ...	IBD & Mucosal Immunity	IBD	Moderate
rs2066847	NOD2 3020insC (1007fs)	The most important Crohn's disease risk variant worldwide — a frameshift inse...	IBD & Mucosal Immunity	IBD	Established
rs35829419	NLRP3 Q705K	Gain-of-function missense variant in the NLRP3 inflammasome sensor that eleva...	Innate Immunity & Infection Defense	IBD	Moderate
rs2301436	FGFR1OP	Intronic variant in FGFR1OP (CEP43) at the RNASET2-FGFR1OP-CCR6 autoimmune su...	IBD & Mucosal Immunity	IBD	Strong
rs2631367	SLC22A5 OCTN2 -207C>G	Promoter variant in SLC22A5 (OCTN2) that reduces carnitine transporter expres...	IBD & Mucosal Immunity	IBD	Strong
rs3197999	MST1 R689C	Macrophage-stimulating protein variant affecting innate immune response and I...	IBD & Mucosal Immunity	IBD	Strong
rs3816769	STAT3 STAT3 co-variant	Intronic STAT3 variant where the T allele (reference, ~66%) increases risk fo...	TNF, NF-kB & Inflammatory Cytokines	IBD	Moderate
rs4562997	SMAD3	Second intronic enhancer variant in SMAD3 that modulates TGF-beta effector si...	IBD & Mucosal Immunity	IBD	Moderate
rs7234029	PTPN2	Intronic PTPN2 variant that reduces expression of T-cell protein tyrosine pho...	Autoimmune Tolerance & T-Cell Regulation	IBD	Strong
rs492602	FUT2 FUT2 secretor status proxy	A synonymous FUT2 proxy variant in strong LD with the W143X nonsense allele (...	IBD & Mucosal Immunity	IBD	Strong
rs6693831	IL23R	Intronic IL23R variant where the minor T allele is associated with increased ...	IBD & Mucosal Immunity	IBD	Moderate
rs689466	PTGS2 A-1195G	Promoter variant in the PTGS2/COX-2 gene that reduces baseline COX-2 expressi...	IBD & Mucosal Immunity	IBD	Moderate
rs7753394	TNFAIP3	Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3 that co-...	TNF, NF-kB & Inflammatory Cytokines	IBD	Moderate
rs6908425	CDKAL1	Intronic variant in CDKAL1, a tRNA methylthiotransferase gene; the C allele i...	IBD & Mucosal Immunity	IBD	Strong
rs9807989	IL18R1	Upstream regulatory variant of IL18R1 on chromosome 2q12; the T risk allele i...	TNF, NF-kB & Inflammatory Cytokines	IBD	Moderate
rs7517847	IL23R	Intronic IL23R variant in which the T allele increases susceptibility to Croh...	IBD & Mucosal Immunity	IBD	Strong
rs6589702	PRG2 PRG2 Eosinophil Major Basic Protein Variant	Intergenic regulatory variant near the PRG2/PRG3 eosinophil granule protein c...	Allergy & Atopic Disease	IBD	Emerging
rs7927997	EMSY EMSY/C11orf30 Atopy Regulatory Variant	Regulatory variant near C11orf30 (EMSY) on chromosome 11q13.5; the T allele r...	Allergy & Atopic Disease	IBD	Strong