Tag
Immune & Autoimmune
91 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs10488631 | IRF5 | Near-gene regulatory variant tagging an IRF5 haplotype that elevates interfer... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs10399931 | CHI3L1 CHI3L1 eQTL Partner Variant | Upstream regulatory variant in the CHI3L1 YKL-40 quantitative trait locus; th... | Allergy & Atopic Disease | Moderate | |
| rs10818488 | TRAF1 TRAF1-C5 rheumatoid arthritis variant | Intergenic regulatory variant between TRAF1 and C5 on chromosome 9; the A all... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs12101255 | TSHR | Intronic regulatory variant in TSHR intron 1; the T allele disrupts thymic ex... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs10954213 | IRF5 3'UTR polyadenylation | 3'UTR variant creating a functional polyadenylation site; A allele produces a... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs10984447 | DBC1 DBC1 multiple sclerosis susceptibility variant | Intronic variant in DBC1 (DBCCR1/BRINP1) at 9q33.1 associated with multiple s... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs12101261 | TSHR TSHR Intron 1 Adjacent Regulatory Variant | Intronic regulatory variant in TSHR intron 1 that is the primary PLZF repress... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs1217414 | PTPN22 | Intronic PTPN22 variant independently associated with psoriasis and ankylosin... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| 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 | |
| rs1270942 | CFB | Intronic variant in Complement Factor B associated with strongly elevated sys... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs13245639 | IRF5 Regulatory | Cis-regulatory IRF5 variant in near-perfect LD (r²=0.97) with the rs729302 pr... | Interferon Signaling & Systemic Autoimmune | Moderate | |
| rs11052552 | CLECL1 | Intronic variant in CLECL1, a dendritic-cell costimulatory C-type lectin, ass... | Appetite & Obesity | Moderate | |
| rs13277113 | BLK | Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase ex... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs1800896 | IL10 -1082 A>G | Promoter variant affecting IL-10 production — the master anti-inflammatory cy... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs10889677 | IL23R | 3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — th... | IBD & Mucosal Immunity | Strong | |
| rs12722489 | IL2RA | Intronic variant in IL2RA intron 1 that creates an estrogen-responsive enhanc... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs1990760 | IFIH1 Ala946Thr | Gain-of-function missense variant in the MDA5 viral RNA sensor, enhancing typ... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs1539243 | IKBKE IKBKE Ile67 synonymous variant | Synonymous coding variant in exon 4 of IKBKE (IKK-epsilon); the C allele tags... | Psoriasis & Spondyloarthropathy | Moderate | |
| rs1799724 | TNF -857C>T | TNF promoter variant that disrupts an OCT-1 binding site, altering TNF-alpha ... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs1883832 | CD40 Kozak -1C>T | Kozak sequence variant at position −1 of the CD40 start codon — the C allele ... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs2004640 | IRF5 G198T | Intronic variant creating alternative splice site that increases autoimmune d... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs1800629 | TNF -308 G>A | Promoter variant increasing TNF-alpha production approximately 2-fold, associ... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs2187668 | HLA-DQA1 DQ2.5 tag | Tag SNP for HLA-DQ2.5 haplotype, the strongest genetic risk factor for celiac... | Interferon Signaling & Systemic Autoimmune | Established | |
| rs2248932 | BLK Promoter/Intronic | Intronic BLK variant in the FAM167A-BLK regulatory locus that reduces B-lymph... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs12044149 | IL23R | Regulatory variant upstream of the IL-23 receptor gene more strongly associat... | IBD & Mucosal Immunity | Strong | |
| rs179247 | TSHR TSHR Intron 1 Graves' Disease Risk Variant | Intronic regulatory variant in TSHR intron 1; the A allele reduces thymic exp... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs1800630 | TNF -863C>A | TNF promoter variant that disrupts NF-κB p50-p50 binding, reducing TNF-alpha ... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs2104286 | IL2RA | Intronic variant affecting IL-2 receptor alpha chain expression and soluble I... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs2280714 | IRF5 3'UTR | Downstream regulatory variant in the IRF5 3' region that elevates IRF5 mRNA e... | Interferon Signaling & Systemic Autoimmune | Moderate | |
| rs2736340 | BLK | FAM167A-BLK region regulatory variant that reduces B-lymphoid tyrosine kinase... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs2230600 | PTPN13 I1522M | Missense variant in PTPN13 (FAP-1) converting Ile to Met at position 1522; th... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs2256774 | IL2RA | Intronic IL2RA variant independently associated with psoriasis susceptibility | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs3024505 | IL10 3' downstream variant | Downstream IL10 enhancer variant that disrupts a STAT3 binding site, reducing... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs12979860 | IFNL4 | Intronic variant in IFNL4 — the strongest host genetic predictor of hepatitis... | Pharmacogenomics | Established | |
| rs2268458 | TSHR TSHR Intron 1 Meta-Analysis Variant | Intronic variant in TSHR intron 1; the C allele increases susceptibility to G... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs12980275 | IFNL3 | Downstream variant near IFNL3 — third IL28B locus predictor of hepatitis C sp... | Pharmacogenomics | Established | |
| rs1495965 | IL23R | Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated ... | IBD & Mucosal Immunity | Strong | |
| rs3131379 | MSH5 | Intronic variant in the HLA class III region near MSH5 associated with lupus ... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs11808092 | EVI5 | Missense variant in EVI5's coiled-coil domain altering immune cell traffickin... | Neurology & Cognition | Strong | |
| rs231775 | CTLA4 Thr17Ala | Missense variant in the CTLA-4 leader peptide that reduces surface expression... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs3212227 | IL12B 3'UTR | IL12B 3'-UTR variant forming the canonical two-SNP psoriasis risk haplotype w... | Psoriasis & Spondyloarthropathy | Strong | |
| rs3748079 | ITPR3 ITPR3 rs3748079 | Promoter variant in the ITPR3 calcium channel gene affecting NKX2.5 binding a... | B-Cell Immunity & Antibody-Mediated Disease | Moderate | |
| rs2275913 | IL17A -197G>A | Promoter variant in the NFAT binding site that increases IL-17A transcription... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs2469434 | CD226 | Deep-intronic variant in the CD226 (DNAM-1) co-stimulatory receptor gene asso... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs3213094 | IL12B Promoter-region | Intronic IL12B variant in linkage with the promoter-regulatory haplotype; T a... | Psoriasis & Spondyloarthropathy | Moderate | |
| rs4728142 | IRF5 Promoter Indel Tag (CGGGG insertion) | Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromati... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs4810485 | CD40 | Intronic variant in CD40 regulating B-cell surface expression; the G allele d... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs4840568 | BLK | Regulatory variant 2kb upstream of BLK that tags reduced B-lymphoid tyrosine ... | B-Cell Immunity & Antibody-Mediated Disease | Moderate | |
| rs3087243 | CTLA4 CT60 | Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs6910071 | TSBP1 | MHC-region intronic variant tagging HLA-DRB1 shared epitope haplotypes; G all... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs3134883 | IL2RA | Intronic IL2RA variant independently associated with rheumatoid arthritis ris... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs3748067 | IL17A | 3'UTR variant in IL-17A that alters post-transcriptional regulation via miRNA... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs729302 | IRF5 | Near-gene variant tagging an IRF5 protective haplotype in the 5' promoter reg... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs17696736 | NAA25 NAA25 G/A | Intronic tag SNP at the 12q24 locus, increasing risk for type 1 diabetes, juv... | Blood Sugar & Diabetes | Strong | |
| rs2301436 | FGFR1OP | Intronic variant in FGFR1OP (CEP43) at the RNASET2-FGFR1OP-CCR6 autoimmune su... | IBD & Mucosal Immunity | Strong | |
| rs33996649 | PTPN22 R263Q | Protective loss-of-function variant in the PTPN22 catalytic domain that reduc... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs3761847 | TRAF1 | Intronic GWAS variant in the TRAF1-C5 locus on chromosome 9 robustly associat... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs7454108 | HLA-DQB1 DQ8 tag | Tag SNP identifying HLA-DQ8 haplotype, second strongest genetic risk factor f... | Interferon Signaling & Systemic Autoimmune | Established | |
| rs13424006 | IL1RL1 | Intronic IL1RL1 variant in the 10th intron of the ST2 receptor gene; C allele... | Allergy & Atopic Disease | Moderate | |
| rs3796508 | TLR6 Val327Met | Missense variant substituting valine with methionine at position 327 of TLR6,... | Innate Immunity & Infection Defense | Emerging | |
| rs582757 | TNFAIP3 TNFAIP3 A20 regulatory variant | Intronic regulatory variant in TNFAIP3 — the primary NF-kB brake gene — with ... | Psoriasis & Spondyloarthropathy | Strong | |
| rs41295061 | IL2RA | Regulatory variant in the IL2RA locus altering LEF1 transcription factor bind... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs5742909 | CTLA4 Promoter -318C/T | Promoter variant that increases CTLA-4 transcription; T allele carriers show ... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs9268839 | HLA-DRA | Intergenic tag SNP upstream of HLA-DRA; the G allele is the primary GWAS sign... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs9277535 | HLA-DPB1 | 3' UTR eQTL that reduces HLA-DPB1 expression, impairing antigen presentation ... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs6693831 | IL23R | Intronic IL23R variant where the minor T allele is associated with increased ... | IBD & Mucosal Immunity | Moderate | |
| rs763361 | CD226 Gly307Ser | Missense variant in the T-cell and NK-cell co-stimulatory receptor CD226 (DNA... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs763780 | IL17F His161Arg | Missense variant that reduces IL-17F bioactivity and acts as a natural IL-17F... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs7530511 | IL23R Leu310Pro | Missense variant in the IL-23 receptor that substitutes leucine for proline a... | IBD & Mucosal Immunity | Moderate | |
| rs1950897 | RAD51B RAD51B Intronic RA Susceptibility Variant | Intronic variant in RAD51B on chromosome 14; the T allele is associated with ... | Allergy & Atopic Disease | Strong | |
| rs2040410 | HLA-DQA1 HLA-DQ Autoimmune Tag SNP | Intronic tag SNP near HLA-DQA1 that marks the DR3 (DRB1*0301-DQA1*0501-DQB1*0... | Allergy & Atopic Disease | Strong | |
| rs2227284 | IL4 IL4 T+2979G | Intronic regulatory variant in IL-4, the master Th2 cytokine; the T allele im... | Allergy & Atopic Disease | Moderate | |
| rs2240032 | RAD50 RAD50 RHS7 TH2-LCR Variant | Intronic RAD50 variant in the Th2 locus control region (RHS7); T allele alter... | Allergy & Atopic Disease | Moderate | |
| rs2243250 | IL4 IL4 -589C>T | Promoter polymorphism 589 bases upstream of the IL-4 transcription start site... | Allergy & Atopic Disease | Strong | |
| rs2243290 | IL4 IL4 Intron 3 Protective Haplotype Variant | Intronic IL4 variant that forms part of the protective C-G-C haplotype (rs224... | Allergy & Atopic Disease | Moderate | |
| rs2523506 | DDX39B | Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) ... | Neurology & Cognition | Strong | |
| rs78534766 | ADCY7 ADCY7 D439E | Low-frequency missense variant in adenylyl cyclase 7 that reduces cAMP synthe... | Hormones & Sleep | 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 | |
| rs4803217 | IFNL3 3'UTR | 3' untranslated region variant in IFNL3 (IL28B) that controls mRNA stability ... | Pharmacogenomics | Strong | |
| rs6062486 | RTEL1 Telomere helicase immune variant | Intronic variant in RTEL1 (regulator of telomere elongation helicase 1) assoc... | Allergy & Atopic Disease | Strong | |
| rs4149584 | TNFRSF1A R92Q | Missense variant in TNF receptor 1 that causes low-penetrance TRAPS (recurren... | Neurology & Cognition | Strong | |
| rs7125552 | EMSY EMSY Haplotype Partner Allergy Variant | Intronic EMSY variant that defines the high-risk haplotype at 11q13.5; the G ... | Allergy & Atopic Disease | Moderate | |
| rs7130588 | LRRC32 | Regulatory variant near LRRC32 (GARP) on chromosome 11q13.5; the G allele inc... | Allergy & Atopic Disease | Strong | |
| rs7927894 | EMSY | Regulatory variant near the EMSY/C11orf30 locus; T allele is the broadest kno... | Allergy & Atopic Disease | Strong | |
| rs872129 | CHI3L1 CHI3L1 eQTL Variant | Third independent eQTL signal at the CHI3L1/YKL-40 locus on chromosome 1q32.1... | Allergy & Atopic Disease | Moderate | |
| rs911263 | RAD51B RAD51B RA Proxy Variant | Intronic proxy variant in RAD51B associated with seropositive rheumatoid arth... | Allergy & Atopic Disease | Moderate | |
| rs8099917 | IFNL3 | Intergenic variant upstream of IFNL3 — second major IL28B locus predictor of ... | Pharmacogenomics | Established | |
| 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 |