Tag

MHC Antigen Presentation

20 genetic variants with this tag.

RSID	Gene	Description	Category
rs10050860	ERAP1 D575N	Missense variant (Asp575Asn) in the ERAP1 catalytic domain that modestly redu...	Psoriasis & Spondyloarthropathy	MHC Antigen Presentation	Strong
rs115161931	CTSS	Independent CTSS-locus GWAS signal for atopic dermatitis on chromosome 1q21.3...	Allergy & Atopic Disease	MHC Antigen Presentation	Moderate
rs17482078	ERAP1 R725Q	Missense variant (Arg725Gln) in the ERAP1 peptide-binding domain that reduces...	Psoriasis & Spondyloarthropathy	MHC Antigen Presentation	Strong
rs2269475	AIF1 AIF1 Arg69Trp	Missense variant in allograft inflammatory factor 1 (Iba1), a macrophage-expr...	B-Cell Immunity & Antibody-Mediated Disease	MHC Antigen Presentation	Moderate
rs26653	ERAP1	Missense variant (Arg127Pro) in ERAP1 that subtly alters ER peptide trimming ...	Psoriasis & Spondyloarthropathy	MHC Antigen Presentation	Strong
rs27044	ERAP1 Gln730Glu	Missense variant in the ERAP1 C-terminal regulatory domain modulating peptide...	Psoriasis & Spondyloarthropathy	MHC Antigen Presentation	Moderate
rs27524	ERAP1	Intronic ERAP1 variant that increases expression, raising psoriasis risk spec...	Psoriasis & Spondyloarthropathy	MHC Antigen Presentation	Strong
rs419788	SKIV2L	Intronic SKIV2L variant in the MHC class III region; the T allele tags an ind...	Interferon Signaling & Systemic Autoimmune	MHC Antigen Presentation	Moderate
rs30187	ERAP1 K528R	Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosin...	Psoriasis & Spondyloarthropathy	MHC Antigen Presentation	Strong
rs660895	HLA-DRB1	Regulatory tag SNP in the HLA-DRB1 region; the G allele marks the HLA-DRB1*04...	Interferon Signaling & Systemic Autoimmune	MHC Antigen Presentation	Strong
rs6910071	TSBP1	MHC-region intronic variant tagging HLA-DRB1 shared epitope haplotypes; G all...	Interferon Signaling & Systemic Autoimmune	MHC Antigen Presentation	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	MHC Antigen Presentation	Established
rs9268839	HLA-DRA	Intergenic tag SNP upstream of HLA-DRA; the G allele is the primary GWAS sign...	Interferon Signaling & Systemic Autoimmune	MHC Antigen Presentation	Strong
rs9277535	HLA-DPB1	3' UTR eQTL that reduces HLA-DPB1 expression, impairing antigen presentation ...	Interferon Signaling & Systemic Autoimmune	MHC Antigen Presentation	Strong
rs146527530	CTSS CTSS AD Risk Signal (Budu-Aggrey 2023)	Third independent CTSS-locus atopic dermatitis risk signal from the Budu-Aggr...	Allergy & Atopic Disease	MHC Antigen Presentation	Moderate
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	MHC Antigen Presentation	Strong
rs187080438	CTSS Cathepsin S antigen presentation variant	Intronic variant in the CTSS locus associated with elevated atopic dermatitis...	Allergy & Atopic Disease	MHC Antigen Presentation	Moderate
rs2040410	HLA-DQA1 HLA-DQ Autoimmune Tag SNP	Intronic tag SNP near HLA-DQA1 that marks the DR3 (DRB10301-DQA10501-DQB1*0...	Allergy & Atopic Disease	MHC Antigen Presentation	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	MHC Antigen Presentation	Established
rs7192	HLA-DRA HLA-DRA Leu242Val	Missense variant (Leu242Val) in the HLA-DRA alpha chain; the T allele tags HL...	Allergy & Atopic Disease	MHC Antigen Presentation	Strong