Tag

Immune & Gut

49 genetic variants with this tag.

RSID	Gene	Description	Category
rs12870438	EPSTI1	Intronic variant in the immune-response gene EPSTI1, associated in recessive ...	Fertility & Reproductive Health	Male Fertility Sperm Quality Fertility	Moderate
rs13361189	IRGM −4299T>C	Autophagy regulator affecting bacterial clearance in the gut and Crohn's dise...	Immune & Gut	Immune & Gut Autophagy IBD	Strong
rs3197999	MST1 R689C	Macrophage-stimulating protein variant affecting innate immune response and I...	Immune & Gut	Immune & Gut IBD Innate Immunity	Strong
rs61816761	FLG R501X	Nonsense variant eliminating filaggrin protein, the major genetic risk factor...	Immune & Gut	Skin Health Immune & Gut Inflammation	Established
rs35829419	NLRP3 Q705K	Gain-of-function missense variant in the NLRP3 inflammasome sensor that eleva...	Immune & Gut	Immune & Gut Inflammation Gout	Moderate
rs2275913	IL17A -197G>A	Promoter variant in the NFAT binding site that increases IL-17A transcription...	Immune & Gut	Immune & Gut Immune & Autoimmune Inflammation	Strong
rs1837253	TSLP Upstream Variant	Upstream regulatory variant in TSLP reducing cytokine expression; the protect...	Immune & Gut	Immune & Gut Asthma Inflammation	Strong
rs2569190	CD14 -159C>T	Promoter variant affecting CD14 expression and LPS receptor signaling — deter...	Immune & Gut	Immune & Gut Innate Immunity Inflammation	Strong
rs4077515	CARD9 S12N	Gain-of-function missense variant in the CARD9 adaptor protein that enhances ...	Immune & Gut	Immune & Gut Innate Immunity Gut Microbiome	Strong
rs2230926	TNFAIP3 F127C	Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negat...	Immune & Gut	Autoimmune Inflammation Gut Barrier	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
rs396991	FCGR3A V158F	Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig...	Immune & Gut	Immune & Gut Pharmacogenomics Innate Immunity	Strong
rs10758669	JAK2	Intergenic variant near JAK2 that increases JAK2 expression and JAK-STAT sign...	Immune & Gut	Immune & Gut Gut Barrier IBD	Strong
rs11362	DEFB1 G-20A	5' UTR variant in the beta-defensin 1 gene that reduces antimicrobial peptide...	Immune & Gut	Innate Immunity Gut Health Immune & Gut	Moderate
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
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
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
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
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
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
rs5743708	TLR2 R753Q	Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	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
rs3775291	TLR3 Leu412Phe	Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antivir...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Strong
rs2201841	IL23R	Intronic variant in the IL-23 receptor gene associated with increased risk of...	Immune & Gut	Immune & Gut Autoimmune Inflammation	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
rs3804099	TLR2	Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splic...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
rs9271366	HLA-DQA1 eQTL	Intergenic eQTL near HLA-DQA1 that tags the DR15 haplotype (DRB115:01/DQA10...	Immune & Gut	Immune & Gut Immune & Autoimmune HLA	Established
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
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
rs5743810	TLR6 Ser249Pro	Coding variant replacing serine with proline at TLR6 position 249, altering T...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	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
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