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 | Strong | |
| rs10499194 | TNFAIP3 | Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protecti... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs10516487 | BANK1 R61H | BANK1 scaffold protein missense variant that shifts B-cell receptor signaling... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs1016140 | CD58 | Intronic CD58 variant with a dual role — the G allele increases T-cell activi... | Neurology & Cognition | Moderate | |
| rs12188300 | IL12B | Near-gene variant at the IL12B locus associated with psoriasis risk through a... | Psoriasis & Spondyloarthropathy | Moderate | |
| rs10489629 | IL23R | Intronic IL23R variant in LD block 2 where the T allele is associated with in... | IBD & Mucosal Immunity | 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 | Established | |
| rs10758669 | JAK2 | Intergenic variant near JAK2 that increases JAK2 expression and JAK-STAT sign... | IBD & Mucosal Immunity | Strong | |
| rs1270942 | CFB | Intronic variant in Complement Factor B associated with strongly elevated sys... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs13207033 | TNFAIP3 | Intergenic protective variant near TNFAIP3 that tags a haplotype associated w... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs13190932 | TRAF3IP2 R74W | Missense variant in the IL-17 adaptor Act1 (Arg74Trp) that is the primary GWA... | Psoriasis & Spondyloarthropathy | Strong | |
| rs12722489 | IL2RA | Intronic variant in IL2RA intron 1 that creates an estrogen-responsive enhanc... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs13193677 | TRAF3IP2 | Intronic variant near the TRAF3IP2 locus (annotated in IPCEF1 at chr6q25.2 by... | Psoriasis & Spondyloarthropathy | Moderate | |
| rs17266594 | BANK1 Branch-point splice | Intronic branch-point variant in BANK1 that shifts isoform balance toward ful... | B-Cell Immunity & Antibody-Mediated Disease | 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 | |
| rs12870438 | EPSTI1 | Intronic variant in the immune-response gene EPSTI1, associated in recessive ... | Endometriosis & Uterine Health | Moderate | |
| rs13196377 | TRAF3IP2 Intronic haplotype member | Intronic tagging variant in the TRAF3IP2/TRAF3IP2-AS1 locus that distinguishe... | Psoriasis & Spondyloarthropathy | Moderate | |
| rs150597413 | FLG S3247X | Nonsense variant eliminating filaggrin protein — a minor European FLG null al... | Skin & Eyes | Strong | |
| rs11465770 | IL23R | Intronic IL23R variant whose minor T allele tags a protective haplotype that ... | IBD & Mucosal Immunity | Moderate | |
| rs13210247 | TRAF3IP2 | Intronic variant in the TRAF3IP2 locus that lies within the antisense lncRNA ... | Psoriasis & Spondyloarthropathy | 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 | Moderate | |
| rs187084 | TLR9 Promoter -1486T/C | Promoter variant that alters transcription factor binding and TLR9 expression... | Innate Immunity & Infection Defense | Moderate | |
| rs13361189 | IRGM −4299T>C | Autophagy regulator affecting bacterial clearance in the gut and Crohn's dise... | IBD & Mucosal Immunity | Strong | |
| rs2104286 | IL2RA | Intronic variant affecting IL-2 receptor alpha chain expression and soluble I... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs2108225 | SLC26A3 SLC26A3 Ulcerative Colitis Susceptibility Variant | Regulatory variant at the SLC26A3 locus associated with ulcerative colitis su... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs2201841 | IL23R | Intronic variant in the IL-23 receptor gene associated with increased risk of... | Psoriasis & Spondyloarthropathy | Strong | |
| rs2230926 | TNFAIP3 F127C | Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negat... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs2569190 | CD14 -159C>T | Promoter variant affecting CD14 expression and LPS receptor signaling — deter... | Innate Immunity & Infection Defense | Strong | |
| rs3733197 | BANK1 A383T | BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signalin... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs12044852 | CD58 | Intronic CD58 variant in strong LD with rs2300747 (r²=0.929); the C allele dr... | Neurology & Cognition | Strong | |
| rs2275913 | IL17A -197G>A | Promoter variant in the NFAT binding site that increases IL-17A transcription... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs352140 | TLR9 | Synonymous variant in TLR9 that increases receptor expression, amplifying inn... | Innate Immunity & Infection Defense | Moderate | |
| rs397507563 | FLG 3702delG | Frameshift deletion in the third filaggrin repeat domain — the third most com... | Skin & Eyes | Established | |
| rs35829419 | NLRP3 Q705K | Gain-of-function missense variant in the NLRP3 inflammasome sensor that eleva... | Innate Immunity & Infection Defense | Moderate | |
| rs4810485 | CD40 | Intronic variant in CD40 regulating B-cell surface expression; the G allele d... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs2241879 | ATG16L1 | Intronic ATG16L1 variant in tight LD with the T300A coding variant; the G ris... | IBD & Mucosal Immunity | Strong | |
| rs558269137 | FLG 2282del4 | Frameshift deletion eliminating filaggrin protein, the second most common Eur... | Skin & Eyes | Established | |
| rs33980500 | TRAF3IP2 D10N | Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b... | Psoriasis & Spondyloarthropathy | Strong | |
| rs1335532 | CD58 | Intronic CD58 variant that sits inside the miR-548ac stem-loop; the A allele ... | Neurology & Cognition | Strong | |
| rs61816761 | FLG R501X | Nonsense variant eliminating filaggrin protein, the major genetic risk factor... | Skin & Eyes | Established | |
| rs1414273 | CD58 | Intronic CD58 variant hosting the miR-548ac stem-loop; the C allele creates a... | Neurology & Cognition | Strong | |
| rs2631367 | SLC22A5 OCTN2 -207C>G | Promoter variant in SLC22A5 (OCTN2) that reduces carnitine transporter expres... | IBD & Mucosal Immunity | Strong | |
| rs3775291 | TLR3 Leu412Phe | Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antivir... | Innate Immunity & Infection Defense | Strong | |
| rs7574865 | STAT4 Intron 3 | Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs3197999 | MST1 R689C | Macrophage-stimulating protein variant affecting innate immune response and I... | IBD & Mucosal Immunity | Strong | |
| rs4406273 | HLA-C | Near-HLA-C intergenic variant that tags HLA-C*06:02 haplotype, conferring ris... | Psoriasis & Spondyloarthropathy | Strong | |
| rs3804099 | TLR2 | Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splic... | Innate Immunity & Infection Defense | Moderate | |
| rs396991 | FCGR3A V158F | Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig... | Innate Immunity & Infection Defense | Strong | |
| rs610604 | TNFAIP3 | Intronic variant in TNFAIP3 whose G allele is the primary psoriasis susceptib... | Psoriasis & Spondyloarthropathy | Strong | |
| rs4077515 | CARD9 S12N | Gain-of-function missense variant in the CARD9 adaptor protein that enhances ... | IBD & Mucosal Immunity | Strong | |
| rs5029937 | TNFAIP3 | Intronic risk variant within TNFAIP3 intron 2 that independently increases su... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs5029939 | TNFAIP3 | Intronic variant near TNFAIP3 that tags a 6q23 haplotype strongly associated ... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs4958847 | IRGM | Intronic IRGM variant that impairs autophagy-mediated clearance of intracellu... | IBD & Mucosal Immunity | Strong | |
| rs4696480 | TLR2 T-16934A | Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, asso... | Innate Immunity & Infection Defense | Moderate | |
| rs6920220 | TNFAIP3 | Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impair... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs4833095 | TLR1 N248S | Missense variant replacing asparagine with serine at TLR1 position 248 in the... | Innate Immunity & Infection Defense | Strong | |
| rs1800693 | TNFRSF1A | Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking ... | Neurology & Cognition | Strong | |
| rs5743618 | TLR1 I602S | Coding variant replacing isoleucine with serine at TLR1 position 602, disrupt... | Innate Immunity & Infection Defense | Strong | |
| rs5743708 | TLR2 R753Q | Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to... | Innate Immunity & Infection Defense | Strong | |
| rs7517847 | IL23R | Intronic IL23R variant in which the T allele increases susceptibility to Croh... | IBD & Mucosal Immunity | Strong | |
| rs1801275 | IL4R Q576R | Gain-of-function missense variant in the IL-4 receptor alpha chain that ampli... | Allergy & Atopic Disease | Strong | |
| rs5743810 | TLR6 Ser249Pro | Coding variant replacing serine with proline at TLR6 position 249, altering T... | Innate Immunity & Infection Defense | Moderate | |
| rs5743836 | TLR9 Promoter -1237T/C | TLR9 promoter variant that creates an IL-6-responsive element and estrogen-se... | Innate Immunity & Infection Defense | Moderate | |
| rs1837253 | TSLP Upstream Variant | Upstream regulatory variant in TSLP reducing cytokine expression; the protect... | Allergy & Atopic Disease | Strong | |
| rs2300747 | CD58 | Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg... | Neurology & Cognition | Strong | |
| rs3129934 | HLA-DRB5 DR15 haplotype tag | Tag SNP for HLA-DRB5*01:01 on the DR15 susceptibility haplotype, physically n... | Neurology & Cognition | 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 | Established | |
| rs3194051 | IL7R I356V | Exon 8 missense variant in the IL-7 receptor alpha chain (Ile356Val) associat... | Neurology & Cognition | Moderate | |
| rs61816766 | FLG Filaggrin second variant | Intronic FLG-locus variant strongly associated with atopic dermatitis — the C... | Allergy & Atopic Disease | Strong | |
| rs6897932 | IL7R T244I | Splicing variant in the IL-7 receptor alpha chain that shifts the balance tow... | Neurology & Cognition | Strong | |
| rs9271366 | HLA-DQA1 eQTL | Intergenic eQTL near HLA-DQA1 that tags the DR15 haplotype (DRB1*15:01/DQA1*0... | Neurology & Cognition | Established | |
| rs9275328 | HLA-DQB1 DQB1 region | Intergenic SNP between HLA-DQB1 and HLA-DQA2 that tags the DQB1*06:02 allele,... | Neurology & Cognition | Strong |