Tag
MHC Antigen Presentation
15 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs10050860 | ERAP1 D575N | Missense variant (Asp575Asn) in ERAP1; the protective T allele (Asn575) is co... | Psoriasis & Spondyloarthropathy | Strong | |
| rs17482078 | ERAP1 R725Q | Missense variant (Arg725Gln) in the ERAP1 peptide-binding domain that reduces... | Psoriasis & Spondyloarthropathy | Strong | |
| rs2269475 | AIF1 AIF1 Arg69Trp | Missense variant in allograft inflammatory factor 1 (Iba1), a macrophage-expr... | B-Cell Immunity & Antibody-Mediated Disease | Moderate | |
| rs27524 | ERAP1 | Intronic ERAP1 variant that increases expression, raising psoriasis risk spec... | Psoriasis & Spondyloarthropathy | Strong | |
| rs30187 | ERAP1 K528R | Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosin... | Psoriasis & Spondyloarthropathy | Strong | |
| rs419788 | SKIV2L | Intronic SKIV2L variant in the MHC class III region; the T allele tags an ind... | Interferon Signaling & Systemic Autoimmune | Moderate | |
| rs660895 | HLA-DRB1 | Regulatory tag SNP in the HLA-DRB1 region; the G allele marks the HLA-DRB1*04... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs6910071 | TSBP1 | MHC-region intronic variant tagging HLA-DRB1 shared epitope haplotypes; G all... | Interferon Signaling & Systemic Autoimmune | 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 | |
| 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 | |
| rs17612852 | HLA-DQA1 HLA-DQA1 Peanut Allergy Tag SNP | Intronic tag SNP in HLA-DQA1 in strong LD with HLA-DQA1*01:02; the G allele i... | 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 | |
| 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 | |
| rs7192 | HLA-DRA HLA-DRA Leu242Val | Missense variant (Leu242Val) in the HLA-DRA alpha chain; the T allele tags HL... | Allergy & Atopic Disease | Strong |