Research
Tag

Autoimmunity

19 genetic variants with this tag.

RSID Gene Description Category
rs1048990 PSMA6 PSMA6 -8C>G 5'UTR variant that enhances PSMA6 transcription, amplifying proteasome-driven... Innate Immunity & Infection Defense Moderate
rs1143627 IL1B -31T>C Promoter variant that elevates IL-1β transcription, increasing risk of H. pyl... TNF, NF-kB & Inflammatory Cytokines 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
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
rs28929454 SERPINA1 SERPINA1 intronic variant strongly associated with elevated mortality in ANCA... B-Cell Immunity & Antibody-Mediated Disease Emerging
rs2364480 LTBR Synonymous coding variant in the lymphotoxin-beta receptor gene associated wi... Psoriasis & Spondyloarthropathy Moderate
rs34557412 TNFRSF13B TACI C104R Missense variant in the TACI receptor's cysteine-rich ligand-binding domain t... B-Cell Immunity & Antibody-Mediated Disease Strong
rs7514229 TNFSF4 TNFSF4 OX40 ligand variant Intronic variant in TNFSF4 that tags an upstream regulatory haplotype associa... Interferon Signaling & Systemic Autoimmune Moderate
rs3790565 IL12RB2 Intronic IL12RB2 variant associated with IL-12 signaling pathway variation an... IBD & Mucosal Immunity Moderate
rs3850641 TNFSF4 TNFSF4 (OX40L) Intron 1 Variant Intronic variant in TNFSF4 (OX40 ligand) linked to a promoter haplotype that ... Coronary Artery Disease & Atherosclerosis Moderate
rs72634030 RABEP1 Intronic RABEP1 variant associated with rheumatoid arthritis risk, acting thr... Autoimmune Tolerance & T-Cell Regulation Emerging
rs7530511 IL23R Leu310Pro Missense variant in the IL-23 receptor that substitutes leucine for proline a... IBD & Mucosal Immunity Moderate
rs2523506 DDX39B Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) ... 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
rs76428106 FLT3 FLT3 Intronic Splice Variant Low-frequency intronic variant in FLT3 that creates a cryptic splice site, tr... Hormones & Sleep Strong
rs4794067 TBX21 TBX21 T-bet Promoter -1993T>C Promoter variant ~1993 bp upstream of TBX21 (encoding the T-bet master transc... Allergy & Atopic Disease Moderate
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