Tag

Immune System

38 genetic variants with this tag.

RSID	Gene	Description	Category
rs1537415	GLT6D1	Intronic variant in GLT6D1 reducing GATA-3 transcription factor binding in T ...	Dental & Oral Health	Dental & Oral Health Inflammation Immune System	Strong
rs4986790	TLR4 Asp299Gly	Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recogni...	Immune & Gut	Immune System Inflammation Autoimmune	Strong
rs2738058	DEFA1A3	Intergenic variant downstream of the DEFA1A3 alpha-defensin locus; T risk all...	Dental & Oral Health	Dental & Oral Health Innate Immunity Inflammation	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
rs12785878	DHCR7 Near gene T>G	Influences vitamin D synthesis by regulating how much 7-dehydrocholesterol is...	Vitamins & Micronutrients	Vitamin D Bone Health Immune System	Strong
rs7944926	DHCR7	Near-gene intronic variant in the DHCR7/NADSYN1 locus on chromosome 11 that t...	Vitamins & Micronutrients	Vitamin D Bone Health Immune System	Strong
rs11209026	IL23R R381Q	Strongly protective variant against inflammatory bowel disease and other auto...	Immune & Gut	Inflammation Autoimmune Immune System	Established
rs7940244	NADSYN1 Near DHCR7	Intronic NADSYN1 variant in the DHCR7/NADSYN1 vitamin D locus; T allele tags ...	Vitamins & Micronutrients	Vitamin D Bone Health Immune System	Strong
rs3829251	NADSYN1	Intronic NADSYN1 variant at the DHCR7/NADSYN1 vitamin D locus; A allele was t...	Vitamins & Micronutrients	Vitamin D Bone Health Immune System	Strong
rs61816761	FLG R501X	Nonsense variant eliminating filaggrin protein, the major genetic risk factor...	Immune & Gut	Skin Health Immune & Gut Inflammation	Established
rs1837253	TSLP Upstream Variant	Upstream regulatory variant in TSLP reducing cytokine expression; the protect...	Immune & Gut	Immune & Gut Asthma Inflammation	Strong
rs3126085	FLG	Intronic regulatory variant in the filaggrin gene locus that reduces FLG expr...	Skin & Eyes	Skin Health Inflammation Immune System	Strong
rs1800450	MBL2 Gly54Asp (variant B)	Missense variant disrupting mannose-binding lectin oligomerization, reducing ...	Immune & Gut	Innate Immunity Infectious Disease Complement	Strong
rs1801275	IL4R Q576R	Gain-of-function missense variant in the IL-4 receptor alpha chain that ampli...	Immune & Gut	Immune & Gut Immune System Asthma	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
rs2300747	CD58	Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg...	Immune & Gut	Immune & Gut Autoimmune Neuroinflammation	Strong
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
rs10516487	BANK1 R61H	BANK1 scaffold protein missense variant that shifts B-cell receptor signaling...	Immune & Gut	Autoimmune Lupus Immune System	Strong
rs5743708	TLR2 R753Q	Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	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
rs558269137	FLG 2282del4	Frameshift deletion eliminating filaggrin protein, the second most common Eur...	Immune & Gut	Skin Health Immune & Gut Inflammation	Established
rs4986791	TLR4 Thr399Ile	Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on...	Immune & Gut	Immune System Inflammation Autoimmune	Strong
rs3775291	TLR3 Leu412Phe	Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antivir...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Strong
rs5743618	TLR1 I602S	Coding variant replacing isoleucine with serine at TLR1 position 602, disrupt...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	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
rs3804099	TLR2	Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splic...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
rs8177374	TIRAP Ser180Leu	Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate i...	Immune & Gut	Immune System Inflammation Infectious Disease	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
rs12730935	FLG 3702delG	Frameshift deletion in the third filaggrin repeat domain — the third most com...	Immune & Gut	Skin Health Immune & Gut Inflammation	Established
rs372628716	FLG S3247X	Nonsense variant eliminating filaggrin protein — a minor European FLG null al...	Immune & Gut	Skin Health Immune & Gut Inflammation	Strong
rs4696480	TLR2 T-16934A	Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, asso...	Immune & Gut	Innate Immunity Skin Health Inflammation	Moderate