Tag
Arthritis
28 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 | |
| rs10050860 | ERAP1 D575N | Missense variant (Asp575Asn) in ERAP1; the protective T allele (Asn575) is co... | Psoriasis & Spondyloarthropathy | Strong | |
| rs10980705 | LPAR1 | Upstream regulatory variant that increases LPAR1 transcriptional activity in ... | Fitness & Body | Emerging | |
| rs10489629 | IL23R | Intronic IL23R variant in LD block 2 where the T allele is associated with in... | IBD & Mucosal Immunity | Strong | |
| rs1217414 | PTPN22 | Intronic PTPN22 variant independently associated with psoriasis and ankylosin... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs13190932 | TRAF3IP2 R74W | Missense variant in the IL-17 adaptor Act1 (Arg74Trp) that is the primary GWA... | Psoriasis & Spondyloarthropathy | Strong | |
| rs10889677 | IL23R | 3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — th... | IBD & Mucosal Immunity | Strong | |
| rs13196377 | TRAF3IP2 Intronic haplotype member | Intronic tagging variant in the TRAF3IP2/TRAF3IP2-AS1 locus that distinguishe... | Psoriasis & Spondyloarthropathy | Moderate | |
| rs17561 | IL1A Ala114Ser | Missense variant in IL-1α (Ala114Ser) that acts as a common hypomorphic mutat... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs13210247 | TRAF3IP2 | Intronic variant in the TRAF3IP2 locus that lies within the antisense lncRNA ... | Psoriasis & Spondyloarthropathy | Strong | |
| rs2004640 | IRF5 G198T | Intronic variant creating alternative splice site that increases autoimmune d... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs11465804 | IL23R | Intronic IL23R variant in strong linkage disequilibrium with the functional R... | IBD & Mucosal Immunity | Strong | |
| rs17482078 | ERAP1 R725Q | Missense variant (Arg725Gln) in the ERAP1 peptide-binding domain that reduces... | Psoriasis & Spondyloarthropathy | Strong | |
| rs12044149 | IL23R | Regulatory variant upstream of the IL-23 receptor gene more strongly associat... | IBD & Mucosal Immunity | Strong | |
| rs2201841 | IL23R | Intronic variant in the IL-23 receptor gene associated with increased risk of... | Psoriasis & Spondyloarthropathy | Strong | |
| rs1343151 | IL23R | Intronic IL23R variant whose minor A allele tags the protective haplotype for... | IBD & Mucosal Immunity | Moderate | |
| rs1495965 | IL23R | Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated ... | IBD & Mucosal Immunity | Strong | |
| rs2233434 | NFKBIE | Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs30187 | ERAP1 K528R | Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosin... | Psoriasis & Spondyloarthropathy | Strong | |
| rs2501431 | CNR2 CNR2 rs2501431 | Synonymous coding variant in the cannabinoid receptor 2 gene that tags a hapl... | TNF, NF-kB & Inflammatory Cytokines | Moderate | |
| rs33980500 | TRAF3IP2 D10N | Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b... | Psoriasis & Spondyloarthropathy | Strong | |
| rs4349859 | HLA-B HLA-B27 proxy | Intronic tag SNP located 41 kb centromeric of HLA-B and 5.4 kb telomeric of M... | Psoriasis & Spondyloarthropathy | Established | |
| rs5742909 | CTLA4 Promoter -318C/T | Promoter variant that increases CTLA-4 transcription; T allele carriers show ... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs61752717 | MEFV M694V | The most common and clinically severe MEFV mutation, converting methionine to... | TNF, NF-kB & Inflammatory Cytokines | Established | |
| rs7152376 | NFKBIA | Regulatory variant upstream of NFKBIA that specifically elevates risk of psor... | Psoriasis & Spondyloarthropathy | Moderate | |
| rs6693831 | IL23R | Intronic IL23R variant where the minor T allele is associated with increased ... | IBD & Mucosal Immunity | Moderate | |
| rs7517847 | IL23R | Intronic IL23R variant in which the T allele increases susceptibility to Croh... | IBD & Mucosal Immunity | Strong | |
| rs911263 | RAD51B RAD51B RA Proxy Variant | Intronic proxy variant in RAD51B associated with seropositive rheumatoid arth... | Allergy & Atopic Disease | Moderate |