Tag

Immune & Autoimmune

23 genetic variants with this tag.

RSID	Gene	Description	Category
rs2187668	HLA-DQA1 DQ2.5 tag	Tag SNP for HLA-DQ2.5 haplotype, the strongest genetic risk factor for celiac...	Immune & Gut	Immune & Autoimmune Celiac Disease Gluten Sensitivity	Established
rs7454108	HLA-DQB1 DQ8 tag	Tag SNP identifying HLA-DQ8 haplotype, second strongest genetic risk factor f...	Immune & Gut	Immune & Autoimmune Celiac Disease Type 1 Diabetes	Established
rs1800896	IL10 -1082 A>G	Promoter variant affecting IL-10 production — the master anti-inflammatory cy...	Immune & Gut	Immune & Autoimmune Inflammation Autoimmune	Strong
rs1800629	TNF -308 G>A	Promoter variant increasing TNF-alpha production approximately 2-fold, associ...	Immune & Gut	Immune & Autoimmune Inflammation Drug Metabolism	Strong
rs3087243	CTLA4 CT60	Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation...	Immune & Gut	Immune & Autoimmune Thyroid Diabetes	Strong
rs2004640	IRF5 G198T	Intronic variant creating alternative splice site that increases type I inter...	Immune & Gut	Immune & Autoimmune Inflammation Interferon	Strong
rs1800872	IL10 -592 C>A	Promoter variant affecting IL-10 production — a key anti-inflammatory cytokin...	Heart & Inflammation	Inflammation Cardiovascular Immune & Autoimmune	Strong
rs2275913	IL17A -197G>A	Promoter variant in the NFAT binding site that increases IL-17A transcription...	Immune & Gut	Immune & Gut Immune & Autoimmune Inflammation	Strong
rs2104286	IL2RA	Intronic variant affecting IL-2 receptor alpha chain expression and soluble I...	Immune & Gut	Immune & Gut Autoimmune Type 1 Diabetes	Strong
rs1990760	IFIH1 Ala946Thr	Gain-of-function missense variant in the MDA5 viral RNA sensor, enhancing typ...	Immune & Gut	Immune & Autoimmune Type 1 Diabetes Innate Immunity	Strong
rs10488631	IRF5	Near-gene regulatory variant tagging an IRF5 haplotype that elevates interfer...	Immune & Gut	Immune & Autoimmune Interferon Lupus	Strong
rs4810485	CD40	Intronic variant in CD40 regulating B-cell surface expression; the G allele d...	Immune & Gut	Immune & Autoimmune Rheumatoid Arthritis Inflammation	Strong
rs3135388	HLA-DRA Tag for DRB1*15:01	Tag SNP for HLA-DRB1*15:01 (physically located near HLA-DRA), the strongest g...	Immune & Gut	Immune & Gut Immune & Autoimmune HLA	Established
rs6897932	IL7R T244I	A missense variant in the IL-7 receptor alpha chain that increases soluble IL...	Immune & Gut	Immune & Autoimmune Multiple Sclerosis T-Cell Regulation	Strong
rs12722489	IL2RA	Intronic variant in IL2RA intron 1 that creates an estrogen-responsive enhanc...	Immune & Gut	Immune & Gut Immune & Autoimmune Autoimmune	Strong
rs1800693	TNFRSF1A	Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking ...	Immune & Gut	Immune & Autoimmune Inflammation Drug Metabolism	Strong
rs12191877	HLA-C Tag for *06:02	Tag SNP for HLA-C*06:02, the strongest genetic risk factor for psoriasis, det...	Immune & Gut	Immune & Autoimmune Psoriasis Autoimmunity	Established
rs12188300	IL12B	Near-gene variant at the IL12B locus associated with psoriasis risk through a...	Immune & Gut	Immune & Gut Immune & Autoimmune Inflammation	Moderate
rs1270942	CFB	Intronic variant in Complement Factor B associated with strongly elevated sys...	Immune & Gut	Complement System Lupus Autoimmune	Strong
rs12979860	IFNL4	Intronic variant in IFNL4 — the strongest host genetic predictor of hepatitis...	Immune & Gut	Innate Immunity Inflammation Infectious Disease	Established
rs11808092	EVI5	Missense variant in EVI5's coiled-coil domain altering immune cell traffickin...	Immune & Gut	Autoimmune Immune & Autoimmune Multiple Sclerosis	Strong
rs2523506	DDX39B	Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) ...	Immune & Gut	Immune & Autoimmune Multiple Sclerosis RNA Splicing	Strong
rs13277113	BLK	Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase ex...	Immune & Gut	Autoimmune Lupus Immune System	Strong