Tag
Rheumatoid Arthritis
57 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs10181656 | STAT4 | Intronic STAT4 tagging SNP on the primary SLE risk haplotype; the sentinel va... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs10499194 | TNFAIP3 | Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protecti... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs10488631 | IRF5 | Near-gene regulatory variant tagging an IRF5 haplotype that elevates interfer... | Interferon Signaling & Systemic Autoimmune | Strong | |
| 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 | |
| rs11264799 | FCRL3 | Upstream regulatory variant in FCRL3 with a strong eQTL effect on FCRL3 expre... | B-Cell Immunity & Antibody-Mediated Disease | Emerging | |
| rs1234314 | TNFSF4 | Intronic variant in TNFSF4 that reduces OX40 ligand promoter activity and is ... | Interferon Signaling & Systemic Autoimmune | Moderate | |
| rs13207033 | TNFAIP3 | Intergenic protective variant near TNFAIP3 that tags a haplotype associated w... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs12720356 | TYK2 Ile684Ser | A missense variant in the TYK2 pseudokinase (JH2) domain that partially impai... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs13277113 | BLK | Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase ex... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs12730735 | PTPN22 | Intronic PTPN22 haplotype tag variant that refines autoimmune risk stratifica... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs1801274 | FCGR2A H131R | Missense variant in Fc gamma receptor IIa that substitutes histidine (H131, h... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs1800630 | TNF -863C>A | TNF promoter variant that disrupts NF-κB p50-p50 binding, reducing TNF-alpha ... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs201408742 | GPR174 | X-linked intergenic variant near GPR174 (G protein-coupled receptor 174), a l... | TNF, NF-kB & Inflammatory Cytokines | Emerging | |
| rs2248932 | BLK Promoter/Intronic | Intronic BLK variant in the FAM167A-BLK regulatory locus that reduces B-lymph... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs2269475 | AIF1 AIF1 Arg69Trp | Missense variant in allograft inflammatory factor 1 (Iba1), a macrophage-expr... | B-Cell Immunity & Antibody-Mediated Disease | Moderate | |
| rs2105325 | LOC100506023 LOC100506023 rs2105325 | Intronic variant in LOC100506023 (PRDX6-AS1) and TNFSF4 at the 1q25.1 locus, ... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs2234067 | ETV7 ETV7 rs2234067 | Upstream regulatory variant near ETV7, an interferon-inducible transcriptiona... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs2736340 | BLK | FAM167A-BLK region regulatory variant that reduces B-lymphoid tyrosine kinase... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs2230926 | TNFAIP3 F127C | Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negat... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs2233434 | NFKBIE | Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs3733197 | BANK1 A383T | BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signalin... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs2234663 | IL1RN | Intron 2 VNTR polymorphism in IL1RN that alters IL-1Ra isoform balance and is... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs2304256 | TYK2 TYK2 V362F | A common missense and splicing variant in TYK2 that promotes exon 8 inclusion... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs3738919 | ITGAV ITGAV integrin alpha-V variant | Intronic ITGAV variant associated with rheumatoid arthritis susceptibility in... | B-Cell Immunity & Antibody-Mediated Disease | Emerging | |
| rs3748079 | ITPR3 ITPR3 rs3748079 | Promoter variant in the ITPR3 calcium channel gene affecting NKX2.5 binding a... | B-Cell Immunity & Antibody-Mediated Disease | Moderate | |
| rs2469434 | CD226 | Deep-intronic variant in the CD226 (DNAM-1) co-stimulatory receptor gene asso... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs2476601 | PTPN22 R620W | The strongest non-HLA autoimmune risk allele, affecting T-cell and B-cell sig... | Autoimmune Tolerance & T-Cell Regulation | Established | |
| rs2501431 | CNR2 CNR2 rs2501431 | Synonymous coding variant in the cannabinoid receptor 2 gene that tags a hapl... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs4810485 | CD40 | Intronic variant in CD40 regulating B-cell surface expression; the G allele d... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs660895 | HLA-DRB1 | Regulatory tag SNP in the HLA-DRB1 region; the G allele marks the HLA-DRB1*04... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs2488457 | PTPN22 | Promoter variant in PTPN22 that alters gene expression and modulates autoimmu... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs6910071 | TSBP1 | MHC-region intronic variant tagging HLA-DRB1 shared epitope haplotypes; G all... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs3087243 | CTLA4 CT60 | Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs3134883 | IL2RA | Intronic IL2RA variant independently associated with rheumatoid arthritis ris... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs33996649 | PTPN22 R263Q | Protective loss-of-function variant in the PTPN22 catalytic domain that reduc... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs35018800 | TYK2 TYK2 Ala928Val | A rare missense variant in the TYK2 pseudokinase (JH2) domain that partially ... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs7574865 | STAT4 Intron 3 | Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs3761847 | TRAF1 | Intronic GWAS variant in the TRAF1-C5 locus on chromosome 9 robustly associat... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs582757 | TNFAIP3 TNFAIP3 A20 regulatory variant | Intronic regulatory variant in TNFAIP3 — the primary NF-kB brake gene — with ... | Psoriasis & Spondyloarthropathy | Strong | |
| rs9268839 | HLA-DRA | Intergenic tag SNP upstream of HLA-DRA; the G allele is the primary GWAS sign... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs3890745 | MMEL1 MMEL1 rs3890745 | Intronic variant near MMEL1 and TNFRSF14 on chromosome 1p36; the C allele is ... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs4845625 | IL6R | Intronic IL6R variant associated with coronary artery disease risk, elevated ... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs5742909 | CTLA4 Promoter -318C/T | Promoter variant that increases CTLA-4 transcription; T allele carriers show ... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs7528684 | FCRL3 -169C>T | Promoter variant in FCRL3 that alters NF-κB binding and elevates FCRL3 expres... | B-Cell Immunity & Antibody-Mediated Disease | Moderate | |
| rs9378815 | IRF4 | Regulatory variant ~15 kb upstream of IRF4 that modulates germinal center B c... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs5029937 | TNFAIP3 | Intronic risk variant within TNFAIP3 intron 2 that independently increases su... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs7234029 | PTPN2 | Intronic PTPN2 variant that reduces expression of T-cell protein tyrosine pho... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs72634030 | RABEP1 | Intronic RABEP1 variant associated with rheumatoid arthritis risk, acting thr... | Autoimmune Tolerance & T-Cell Regulation | Emerging | |
| rs6920220 | TNFAIP3 | Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impair... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs763361 | CD226 Gly307Ser | Missense variant in the T-cell and NK-cell co-stimulatory receptor CD226 (DNA... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs7753394 | TNFAIP3 | Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3 that co-... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs1885013 | RAD51B RAD51B Rheumatoid Arthritis Variant | Intronic variant in RAD51B (RAD51 paralog B), a DNA double-strand break repai... | Allergy & Atopic Disease | Moderate | |
| rs34536443 | TYK2 TYK2 p.Pro1104Ala | A missense variant in TYK2 that partially impairs JAK-family signaling downst... | Hormones & Sleep | Strong | |
| rs1950897 | RAD51B RAD51B Intronic RA Susceptibility Variant | Intronic variant in RAD51B on chromosome 14; the T allele is associated with ... | Allergy & Atopic Disease | Strong | |
| rs907091 | IKZF3 IKZF3 miRNA Binding Region Variant | A 3'UTR variant in IKZF3 that alters miR-326 binding affinity, reducing Aiolo... | Allergy & Atopic Disease | Moderate | |
| rs911263 | RAD51B RAD51B RA Proxy Variant | Intronic proxy variant in RAD51B associated with seropositive rheumatoid arth... | Allergy & Atopic Disease | Moderate | |
| rs963917 | RAD51B RAD51B Central European RA Variant | A 3' UTR variant in RAD51B that alters miRNA-616 binding efficiency and is as... | Allergy & Atopic Disease | Emerging |