Tag

Autoimmune

53 genetic variants with this tag.

RSID	Gene	Description	Category
rs4986790	TLR4 Asp299Gly	Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recogni...	Immune & Gut	Immune System Inflammation Autoimmune	Strong
rs1800896	IL10 -1082 A>G	Promoter variant affecting IL-10 production — the master anti-inflammatory cy...	Immune & Gut	Immune & Autoimmune Inflammation Autoimmune	Strong
rs2476601	PTPN22 R620W	The strongest non-HLA autoimmune risk allele, affecting T-cell and B-cell sig...	Immune & Gut	Autoimmune Immune System Rheumatoid Arthritis	Established
rs1205	CRP +1846C>T	3' UTR variant that modulates baseline C-reactive protein levels and inflamma...	Heart & Inflammation	Inflammation Cardiovascular Diabetes	Strong
rs11209026	IL23R R381Q	Strongly protective variant against inflammatory bowel disease and other auto...	Immune & Gut	Inflammation Autoimmune Immune System	Established
rs3197999	MST1 R689C	Macrophage-stimulating protein variant affecting innate immune response and I...	Immune & Gut	Immune & Gut IBD Innate Immunity	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
rs2230926	TNFAIP3 F127C	Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negat...	Immune & Gut	Autoimmune Inflammation Gut Barrier	Strong
rs116855232	NUDT15 Arg139Cys	Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc...	Pharmacogenomics	Drug Metabolism Pharmacogenomics Chemotherapy	Established
rs3184504	SH2B3 R262W	Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing b...	Heart & Inflammation	Cardiovascular Inflammation Autoimmune	Strong
rs396991	FCGR3A V158F	Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig...	Immune & Gut	Immune & Gut Pharmacogenomics Innate Immunity	Strong
rs2104286	IL2RA	Intronic variant affecting IL-2 receptor alpha chain expression and soluble I...	Immune & Gut	Immune & Gut Autoimmune Type 1 Diabetes	Strong
rs6920220	TNFAIP3	Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impair...	Immune & Gut	Autoimmune Inflammation Rheumatoid Arthritis	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
rs12212067	FOXO3	Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription fac...	Longevity & Aging	Longevity Aging Inflammation	Strong
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
rs2300747	CD58	Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg...	Immune & Gut	Immune & Gut Autoimmune Neuroinflammation	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
rs27524	ERAP1	Intronic ERAP1 variant that increases expression, raising psoriasis risk spec...	Immune & Gut	Immune System Autoimmune Inflammation	Strong
rs4406273	HLA-C	Near-HLA-C intergenic variant that tags HLA-C*06:02 haplotype, conferring ris...	Immune & Gut	Immune & Gut HLA Autoimmune	Strong
rs33980500	TRAF3IP2 D10N	Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b...	Immune & Gut	Immune System Autoimmune Inflammation	Strong
rs1270942	CFB	Intronic variant in Complement Factor B associated with strongly elevated sys...	Immune & Gut	Complement System Lupus Autoimmune	Strong
rs7574865	STAT4 Intron 3	Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response...	Immune & Gut	Immune & Gut Lupus Interferon	Strong
rs10516487	BANK1 R61H	BANK1 scaffold protein missense variant that shifts B-cell receptor signaling...	Immune & Gut	Autoimmune Lupus Immune System	Strong
rs11808092	EVI5	Missense variant in EVI5's coiled-coil domain altering immune cell traffickin...	Immune & Gut	Autoimmune Immune & Autoimmune Multiple Sclerosis	Strong
rs13277113	BLK	Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase ex...	Immune & Gut	Autoimmune Lupus Immune System	Strong
rs352140	TLR9	Synonymous variant in TLR9 that increases receptor expression, amplifying inn...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
rs729302	IRF5	Near-gene variant tagging an IRF5 protective haplotype in the 5' promoter reg...	Immune & Gut	Immune & Autoimmune Interferon Lupus	Strong
rs4986791	TLR4 Thr399Ile	Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on...	Immune & Gut	Immune System Inflammation Autoimmune	Strong
rs1800871	IL10 -819 C>T	Promoter variant in the IL-10 haplotype system — regulates IL-10 anti-inflamm...	Immune & Gut	Inflammation Immune & Autoimmune Autoimmune	Strong
rs4149584	TNFRSF1A R92Q	Missense variant in TNF receptor 1 that causes low-penetrance TRAPS (recurren...	Immune & Gut	Immune & Autoimmune Inflammation Neuroinflammation	Strong
rs2201841	IL23R	Intronic variant in the IL-23 receptor gene associated with increased risk of...	Immune & Gut	Immune & Gut Autoimmune Inflammation	Strong
rs9332739	C2 E318D	Missense variant in complement component C2 forming a protective haplotype wi...	Immune & Gut	Eye Health Complement System Inflammation	Strong
rs3131379	MSH5	Intronic variant in the HLA class III region near MSH5 associated with lupus ...	Immune & Gut	Immune & Autoimmune Lupus Interferon	Strong
rs3733197	BANK1 A383T	BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signalin...	Immune & Gut	Autoimmune Lupus Immune System	Strong
rs26653	ERAP1	Missense variant (Arg127Pro) in ERAP1 that subtly alters ER peptide trimming ...	Immune & Gut	Immune System Autoimmune MHC Antigen Presentation	Strong
rs30187	ERAP1 K528R	Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosin...	Immune & Gut	Immune System Autoimmune Inflammation	Strong
rs12044852	CD58	Intronic CD58 variant in strong LD with rs2300747 (r²=0.929); the C allele dr...	Immune & Gut	Immune & Gut Multiple Sclerosis T-Cell Regulation	Strong
rs1883832	CD40 Kozak -1C>T	Kozak sequence variant at position −1 of the CD40 start codon — the C allele ...	Immune & Gut	Immune & Autoimmune B-Cell Signaling Thyroid	Strong
rs13210247	TRAF3IP2	Intronic variant in the TRAF3IP2 locus that lies within the antisense lncRNA ...	Immune & Gut	Immune & Gut Autoimmune Inflammation	Strong
rs13190932	TRAF3IP2 R74W	Missense variant in the IL-17 adaptor Act1 (Arg74Trp) that is the primary GWA...	Immune & Gut	Immune & Gut Autoimmune Inflammation	Strong
rs10499194	TNFAIP3	Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protecti...	Immune & Gut	Autoimmune Inflammation Rheumatoid Arthritis	Strong
rs8177374	TIRAP Ser180Leu	Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate i...	Immune & Gut	Immune System Inflammation Infectious Disease	Strong
rs231775	CTLA4 Thr17Ala	Missense variant in the CTLA-4 leader peptide that reduces surface expression...	Immune & Gut	Immune & Autoimmune Autoimmune Thyroid	Strong
rs547154	C2 IVS10	Intronic C2 variant forming the H7 protective haplotype with CFB R32Q, reduci...	Immune & Gut	Eye Health Complement System Inflammation	Strong
rs3024491	IL10 Intronic variant	Intronic IL10 variant that reduces anti-inflammatory cytokine production, ind...	Immune & Gut	Inflammation Immune & Autoimmune Gut Health	Moderate
rs7517847	IL23R	Intronic IL23R variant in which the T allele increases susceptibility to Croh...	Immune & Gut	Immune & Gut Autoimmune IBD	Strong
rs1004819	IL23R	Intronic IL-23 receptor variant that increases susceptibility to ankylosing s...	Immune & Gut	Inflammation Autoimmune IBD	Strong
rs187084	TLR9 Promoter -1486T/C	Promoter variant that alters transcription factor binding and TLR9 expression...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
rs4728142	IRF5 Promoter Indel Tag (CGGGG insertion)	Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromati...	Immune & Gut	Immune & Autoimmune Interferon Lupus	Strong