Tag

Immune & Gut

73 genetic variants with this tag.

RSID	Gene	Description	Category
rs1004819	IL23R	Intronic IL-23 receptor variant that increases susceptibility to ankylosing s...	IBD & Mucosal Immunity	Immune & Gut	Strong
rs10499194	TNFAIP3	Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protecti...	TNF, NF-kB & Inflammatory Cytokines	Immune & Gut	Strong
rs10516487	BANK1 R61H	BANK1 scaffold protein missense variant that shifts B-cell receptor signaling...	B-Cell Immunity & Antibody-Mediated Disease	Immune & Gut	Strong
rs1016140	CD58	Intronic CD58 variant with a dual role — the G allele increases T-cell activi...	Neurology & Cognition	Immune & Gut	Moderate
rs12188300	IL12B	Near-gene variant at the IL12B locus associated with psoriasis risk through a...	Psoriasis & Spondyloarthropathy	Immune & Gut	Moderate
rs10489629	IL23R	Intronic IL23R variant in LD block 2 where the T allele is associated with in...	IBD & Mucosal Immunity	Immune & Gut	Strong
rs12191877	HLA-C Tag for *06:02	Tag SNP for HLA-C*06:02, the strongest genetic risk factor for psoriasis, det...	Psoriasis & Spondyloarthropathy	Immune & Gut	Established
rs10758669	JAK2	Intergenic variant near JAK2 that increases JAK2 expression and JAK-STAT sign...	IBD & Mucosal Immunity	Immune & Gut	Strong
rs1270942	CFB	Intronic variant in Complement Factor B associated with strongly elevated sys...	B-Cell Immunity & Antibody-Mediated Disease	Immune & Gut	Strong
rs13207033	TNFAIP3	Intergenic protective variant near TNFAIP3 that tags a haplotype associated w...	TNF, NF-kB & Inflammatory Cytokines	Immune & Gut	Strong
rs13190932	TRAF3IP2 R74W	Missense variant in the IL-17 adaptor Act1 (Arg74Trp) that is the primary GWA...	Psoriasis & Spondyloarthropathy	Immune & Gut	Strong
rs12722489	IL2RA	Intronic variant in IL2RA intron 1 that creates an estrogen-responsive enhanc...	Autoimmune Tolerance & T-Cell Regulation	Immune & Gut	Strong
rs13193677	TRAF3IP2	Intronic variant near the TRAF3IP2 locus (annotated in IPCEF1 at chr6q25.2 by...	Psoriasis & Spondyloarthropathy	Immune & Gut	Moderate
rs17266594	BANK1 Branch-point splice	Intronic branch-point variant in BANK1 that shifts isoform balance toward ful...	B-Cell Immunity & Antibody-Mediated Disease	Immune & Gut	Strong
rs11229030	PRG2	Intergenic tag SNP in the PRG2/PRG3 eosinophil major basic protein gene clust...	Allergy & Atopic Disease	Immune & Gut	Moderate
rs11362	DEFB1 G-20A	5' UTR variant in the beta-defensin 1 gene that reduces antimicrobial peptide...	IBD & Mucosal Immunity	Immune & Gut	Moderate
rs12870438	EPSTI1	Intronic variant in the immune-response gene EPSTI1, associated in recessive ...	Endometriosis & Uterine Health	Immune & Gut	Moderate
rs13196377	TRAF3IP2 Intronic haplotype member	Intronic tagging variant in the TRAF3IP2/TRAF3IP2-AS1 locus that distinguishe...	Psoriasis & Spondyloarthropathy	Immune & Gut	Moderate
rs150597413	FLG S3247X	Nonsense variant eliminating filaggrin protein — a minor European FLG null al...	Skin & Eyes	Immune & Gut	Strong
rs11465770	IL23R	Intronic IL23R variant whose minor T allele tags a protective haplotype that ...	IBD & Mucosal Immunity	Immune & Gut	Moderate
rs13210247	TRAF3IP2	Intronic variant in the TRAF3IP2 locus that lies within the antisense lncRNA ...	Psoriasis & Spondyloarthropathy	Immune & Gut	Strong
rs11466750	TSLP 3'UTR Splice Variant	3'UTR variant in TSLP that acts as an eQTL driving higher TSLP mRNA expressio...	Allergy & Atopic Disease	Immune & Gut	Moderate
rs187084	TLR9 Promoter -1486T/C	Promoter variant that alters transcription factor binding and TLR9 expression...	Innate Immunity & Infection Defense	Immune & Gut	Moderate
rs13361189	IRGM −4299T>C	Autophagy regulator affecting bacterial clearance in the gut and Crohn's dise...	IBD & Mucosal Immunity	Immune & Gut	Strong
rs2104286	IL2RA	Intronic variant affecting IL-2 receptor alpha chain expression and soluble I...	Autoimmune Tolerance & T-Cell Regulation	Immune & Gut	Strong
rs2108225	SLC26A3 SLC26A3 Ulcerative Colitis Susceptibility Variant	Regulatory variant at the SLC26A3 locus associated with ulcerative colitis su...	Autoimmune Tolerance & T-Cell Regulation	Immune & Gut	Moderate
rs2201841	IL23R	Intronic variant in the IL-23 receptor gene associated with increased risk of...	Psoriasis & Spondyloarthropathy	Immune & Gut	Strong
rs2230926	TNFAIP3 F127C	Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negat...	TNF, NF-kB & Inflammatory Cytokines	Immune & Gut	Strong
rs2569190	CD14 -159C>T	Promoter variant affecting CD14 expression and LPS receptor signaling — deter...	Innate Immunity & Infection Defense	Immune & Gut	Strong
rs3733197	BANK1 A383T	BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signalin...	B-Cell Immunity & Antibody-Mediated Disease	Immune & Gut	Strong
rs12044852	CD58	Intronic CD58 variant in strong LD with rs2300747 (r²=0.929); the C allele dr...	Neurology & Cognition	Immune & Gut	Strong
rs2275913	IL17A -197G>A	Promoter variant in the NFAT binding site that increases IL-17A transcription...	TNF, NF-kB & Inflammatory Cytokines	Immune & Gut	Strong
rs352140	TLR9	Synonymous variant in TLR9 that increases receptor expression, amplifying inn...	Innate Immunity & Infection Defense	Immune & Gut	Moderate
rs397507563	FLG 3702delG	Frameshift deletion in the third filaggrin repeat domain — the third most com...	Skin & Eyes	Immune & Gut	Established
rs35829419	NLRP3 Q705K	Gain-of-function missense variant in the NLRP3 inflammasome sensor that eleva...	Innate Immunity & Infection Defense	Immune & Gut	Moderate
rs4810485	CD40	Intronic variant in CD40 regulating B-cell surface expression; the G allele d...	B-Cell Immunity & Antibody-Mediated Disease	Immune & Gut	Strong
rs2241879	ATG16L1	Intronic ATG16L1 variant in tight LD with the T300A coding variant; the G ris...	IBD & Mucosal Immunity	Immune & Gut	Strong
rs558269137	FLG 2282del4	Frameshift deletion eliminating filaggrin protein, the second most common Eur...	Skin & Eyes	Immune & Gut	Established
rs33980500	TRAF3IP2 D10N	Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b...	Psoriasis & Spondyloarthropathy	Immune & Gut	Strong
rs1335532	CD58	Intronic CD58 variant that sits inside the miR-548ac stem-loop; the A allele ...	Neurology & Cognition	Immune & Gut	Strong
rs61816761	FLG R501X	Nonsense variant eliminating filaggrin protein, the major genetic risk factor...	Skin & Eyes	Immune & Gut	Established
rs1414273	CD58	Intronic CD58 variant hosting the miR-548ac stem-loop; the C allele creates a...	Neurology & Cognition	Immune & Gut	Strong
rs2631367	SLC22A5 OCTN2 -207C>G	Promoter variant in SLC22A5 (OCTN2) that reduces carnitine transporter expres...	IBD & Mucosal Immunity	Immune & Gut	Strong
rs3775291	TLR3 Leu412Phe	Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antivir...	Innate Immunity & Infection Defense	Immune & Gut	Strong
rs7574865	STAT4 Intron 3	Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response...	Interferon Signaling & Systemic Autoimmune	Immune & Gut	Strong
rs3197999	MST1 R689C	Macrophage-stimulating protein variant affecting innate immune response and I...	IBD & Mucosal Immunity	Immune & Gut	Strong
rs4406273	HLA-C	Near-HLA-C intergenic variant that tags HLA-C*06:02 haplotype, conferring ris...	Psoriasis & Spondyloarthropathy	Immune & Gut	Strong
rs3804099	TLR2	Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splic...	Innate Immunity & Infection Defense	Immune & Gut	Moderate
rs396991	FCGR3A V158F	Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig...	Innate Immunity & Infection Defense	Immune & Gut	Strong
rs610604	TNFAIP3	Intronic variant in TNFAIP3 whose G allele is the primary psoriasis susceptib...	Psoriasis & Spondyloarthropathy	Immune & Gut	Strong
rs4077515	CARD9 S12N	Gain-of-function missense variant in the CARD9 adaptor protein that enhances ...	IBD & Mucosal Immunity	Immune & Gut	Strong
rs5029937	TNFAIP3	Intronic risk variant within TNFAIP3 intron 2 that independently increases su...	TNF, NF-kB & Inflammatory Cytokines	Immune & Gut	Strong
rs5029939	TNFAIP3	Intronic variant near TNFAIP3 that tags a 6q23 haplotype strongly associated ...	TNF, NF-kB & Inflammatory Cytokines	Immune & Gut	Strong
rs4958847	IRGM	Intronic IRGM variant that impairs autophagy-mediated clearance of intracellu...	IBD & Mucosal Immunity	Immune & Gut	Strong
rs4696480	TLR2 T-16934A	Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, asso...	Innate Immunity & Infection Defense	Immune & Gut	Moderate
rs6920220	TNFAIP3	Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impair...	TNF, NF-kB & Inflammatory Cytokines	Immune & Gut	Strong
rs4833095	TLR1 N248S	Missense variant replacing asparagine with serine at TLR1 position 248 in the...	Innate Immunity & Infection Defense	Immune & Gut	Strong
rs1800693	TNFRSF1A	Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking ...	Neurology & Cognition	Immune & Gut	Strong
rs5743618	TLR1 I602S	Coding variant replacing isoleucine with serine at TLR1 position 602, disrupt...	Innate Immunity & Infection Defense	Immune & Gut	Strong
rs5743708	TLR2 R753Q	Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to...	Innate Immunity & Infection Defense	Immune & Gut	Strong
rs7517847	IL23R	Intronic IL23R variant in which the T allele increases susceptibility to Croh...	IBD & Mucosal Immunity	Immune & Gut	Strong
rs1801275	IL4R Q576R	Gain-of-function missense variant in the IL-4 receptor alpha chain that ampli...	Allergy & Atopic Disease	Immune & Gut	Strong
rs5743810	TLR6 Ser249Pro	Coding variant replacing serine with proline at TLR6 position 249, altering T...	Innate Immunity & Infection Defense	Immune & Gut	Moderate
rs5743836	TLR9 Promoter -1237T/C	TLR9 promoter variant that creates an IL-6-responsive element and estrogen-se...	Innate Immunity & Infection Defense	Immune & Gut	Moderate
rs1837253	TSLP Upstream Variant	Upstream regulatory variant in TSLP reducing cytokine expression; the protect...	Allergy & Atopic Disease	Immune & Gut	Strong
rs2300747	CD58	Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg...	Neurology & Cognition	Immune & Gut	Strong
rs3129934	HLA-DRB5 DR15 haplotype tag	Tag SNP for HLA-DRB5*01:01 on the DR15 susceptibility haplotype, physically n...	Neurology & Cognition	Immune & Gut	Strong
rs3135388	HLA-DRA Tag for DRB1*15:01	Tag SNP for HLA-DRB1*15:01 (physically located near HLA-DRA), the strongest g...	Neurology & Cognition	Immune & Gut	Established
rs3194051	IL7R I356V	Exon 8 missense variant in the IL-7 receptor alpha chain (Ile356Val) associat...	Neurology & Cognition	Immune & Gut	Moderate
rs61816766	FLG Filaggrin second variant	Intronic FLG-locus variant strongly associated with atopic dermatitis — the C...	Allergy & Atopic Disease	Immune & Gut	Strong
rs6897932	IL7R T244I	Splicing variant in the IL-7 receptor alpha chain that shifts the balance tow...	Neurology & Cognition	Immune & Gut	Strong
rs9271366	HLA-DQA1 eQTL	Intergenic eQTL near HLA-DQA1 that tags the DR15 haplotype (DRB115:01/DQA10...	Neurology & Cognition	Immune & Gut	Established
rs9275328	HLA-DQB1 DQB1 region	Intergenic SNP between HLA-DQB1 and HLA-DQA2 that tags the DQB1*06:02 allele,...	Neurology & Cognition	Immune & Gut	Strong