Tag

Innate Immunity

105 genetic variants with this tag.

RSID	Gene	Description	Category
rs1017861	CHD7 CHD7 AIS susceptibility locus	Intronic variant in CHD7, a chromatin remodeler critical for neural crest cel...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs10206753	IL1RL1 IL1RL1 TIR Domain Risk Haplotype	Missense variant in IL1RL1 encoding the Leu551Ser amino acid change in the in...	Allergy & Atopic Disease	Innate Immunity	Strong
rs1024611	CCL2 A-2518G	Promoter variant that increases CCL2 (MCP-1) transcription, amplifying monocy...	Vascular Inflammation & Remodeling	Innate Immunity	Moderate
rs1047031	DEFB1	3'UTR variant in the beta-defensin 1 gene that disrupts a microRNA binding si...	Dental & Oral Health	Innate Immunity	Moderate
rs1041981	LTA Thr26Asn (TNFB*2)	Missense variant in lymphotoxin-alpha, a TNF superfamily cytokine essential f...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs104895431	NOD2	Rare NOD2 missense variant (Ser431Leu) that reduces NF-κB activation in respo...	IBD & Mucosal Immunity	Innate Immunity	Strong
rs1064793792	SERPING1	Frameshift deletion in SERPING1 eliminating C1-inhibitor function — causes he...	B-Cell Immunity & Antibody-Mediated Disease	Innate Immunity	Established
rs104895444	NOD2	Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; c...	IBD & Mucosal Immunity	Innate Immunity	Moderate
rs1048990	PSMA6 PSMA6 -8C>G	5'UTR variant that enhances PSMA6 transcription, amplifying proteasome-driven...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs1064793917	SERPING1	Frameshift deletion in SERPING1 (p.Lys390fs) abolishing C1-inhibitor producti...	B-Cell Immunity & Antibody-Mediated Disease	Innate Immunity	Established
rs10794648	IFNLR1/GRHL3	Intergenic regulatory variant near IFNLR1 that contacts GRHL3 via chromatin l...	Interferon Signaling & Systemic Autoimmune	Innate Immunity	Moderate
rs104895467	NOD2 NOD2 N852S	Rare NOD2 missense variant (Asn852Ser) that impairs innate immune sensing of ...	IBD & Mucosal Immunity	Innate Immunity	Strong
rs10738445	BNC2 BNC2 AIS susceptibility variant	Intronic enhancer variant in basonuclin-2 that increases YY1 binding and BNC2...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs10954213	IRF5 3'UTR polyadenylation	3'UTR variant creating a functional polyadenylation site; A allele produces a...	Interferon Signaling & Systemic Autoimmune	Innate Immunity	Strong
rs11726117	ALPK1 ALPK1 variant	Missense variant in the innate immune kinase ALPK1 (Met861Thr); the C allele ...	Uric Acid & Kidney Function	Innate Immunity	Moderate
rs10751659	PRG3 PRG3 Eosinophil Major Basic Protein Homologue Variant	Intronic variant in the PRG3 gene encoding eosinophil major basic protein hom...	Allergy & Atopic Disease	Innate Immunity	Emerging
rs10759931	TLR4 -2604G>A	Promoter variant in Toll-like receptor 4 that drives higher TLR4 expression a...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs10849448	LTBR	Regulatory variant in the lymphotoxin beta receptor gene associated with incr...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs114947103	CDHR3 CDHR3 intronic variant	Intronic CDHR3 variant in high linkage disequilibrium with the C529Y function...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs17561	IL1A Ala114Ser	Missense variant in IL-1α (Ala114Ser) that acts as a common hypomorphic mutat...	TNF, NF-kB & Inflammatory Cytokines	Innate Immunity	Moderate
rs12252	IFITM3 IFITM3 rs12252 (c.42T>C)	Splice-region synonymous variant in the innate antiviral gene IFITM3; the G a...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs11362	DEFB1 G-20A	5' UTR variant in the beta-defensin 1 gene that reduces antimicrobial peptide...	IBD & Mucosal Immunity	Innate Immunity	Moderate
rs1801274	FCGR2A H131R	Missense variant in Fc gamma receptor IIa that substitutes histidine (H131, h...	B-Cell Immunity & Antibody-Mediated Disease	Innate Immunity	Strong
rs146906133	FRMD5 FRMD5 UTI susceptibility variant	Intronic variant in FRMD5 — a cell-adhesion scaffolding gene — where the rare...	Innate Immunity & Infection Defense	Innate Immunity	Emerging
rs2738058	DEFA1A3	Intergenic variant downstream of the DEFA1A3 alpha-defensin locus; T risk all...	Dental & Oral Health	Innate Immunity	Strong
rs1539243	IKBKE IKBKE Ile67 synonymous variant	Synonymous coding variant in exon 4 of IKBKE (IKK-epsilon); the C allele tags...	Psoriasis & Spondyloarthropathy	Innate Immunity	Moderate
rs1800450	MBL2 Gly54Asp (variant B)	Missense variant disrupting mannose-binding lectin oligomerization, reducing ...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs1990760	IFIH1 Ala946Thr	Gain-of-function missense variant in the MDA5 viral RNA sensor, enhancing typ...	Interferon Signaling & Systemic Autoimmune	Innate Immunity	Strong
rs187084	TLR9 Promoter -1486T/C	Promoter variant that alters transcription factor binding and TLR9 expression...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs2043211	CARD8 C10X	Truncating variant in the NLRP3 inflammasome brake that abolishes CARD8's cas...	TNF, NF-kB & Inflammatory Cytokines	Innate Immunity	Moderate
rs2288904	SLC44A2 R154Q	Missense variant that impairs platelet-neutrophil binding and blocks flow-dep...	Von Willebrand & Anticoagulant Proteins	Innate Immunity	Strong
rs117648444	IFNL4 Pro70Ser (P70S)	Missense variant in IFNL4 exon 2 that reduces IFN-λ4 protein activity; the Se...	Pharmacogenomics	Innate Immunity	Strong
rs13900	CCL2 CCL2 3'UTR variant	3'UTR variant that increases CCL2 mRNA stability via enhanced HuR binding, el...	Vascular Inflammation & Remodeling	Innate Immunity	Moderate
rs1978060	TBX1	Intronic variant in TBX1 acting as a cis-eQTL that reduces TBX1 expression an...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs230523	NFKB1	Intronic variant in the master immune transcription factor NF-κB1, associated...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs2364480	LTBR	Synonymous coding variant in the lymphotoxin-beta receptor gene associated wi...	Psoriasis & Spondyloarthropathy	Innate Immunity	Moderate
rs34557412	TNFRSF13B TACI C104R	Missense variant in the TACI receptor's cysteine-rich ligand-binding domain t...	B-Cell Immunity & Antibody-Mediated Disease	Innate Immunity	Strong
rs1800972	DEFB1 DEFB1 -44C>G	Promoter variant in the beta-defensin 1 gene that reduces constitutive hBD-1 ...	IBD & Mucosal Immunity	Innate Immunity	Moderate
rs2569190	CD14 -159C>T	Promoter variant affecting CD14 expression and LPS receptor signaling — deter...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs12979860	IFNL4	Intronic variant in IFNL4 — the strongest host genetic predictor of hepatitis...	Pharmacogenomics	Innate Immunity	Established
rs2066844	NOD2 R702W	Missense variant in the NOD2 gene that increases Crohn's disease risk, partic...	IBD & Mucosal Immunity	Innate Immunity	Established
rs28362491	NFKB1 -94ins/delATTG	Promoter insertion/deletion polymorphism reducing NF-κB p50 transcription and...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs12980275	IFNL3	Downstream variant near IFNL3 — third IL28B locus predictor of hepatitis C sp...	Pharmacogenomics	Innate Immunity	Established
rs2976388	PSCA PSCA bladder urothelial variant	Intronic PSCA variant that tags a regulatory region active in bladder urothel...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs3738198	SLC30A1 ZnT1 variant	Intronic variant in the ZnT1 zinc efflux transporter gene; the minor C allele...	Iron & Mineral Transport	Innate Immunity	Emerging
rs2066847	NOD2 3020insC (1007fs)	The most important Crohn's disease risk variant worldwide — a frameshift inse...	IBD & Mucosal Immunity	Innate Immunity	Established
rs352140	TLR9	Synonymous variant in TLR9 that increases receptor expression, amplifying inn...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs403016	FCGR3A	Rare missense variant in Fc gamma receptor IIIa (CD16a) causing an Arg36Ser s...	B-Cell Immunity & Antibody-Mediated Disease	Innate Immunity	Emerging
rs12551256	IL33 IL33 protective asthma variant	Intronic IL33 variant where the G allele is negatively associated with asthma...	Allergy & Atopic Disease	Innate Immunity	Emerging
rs35829419	NLRP3 Q705K	Gain-of-function missense variant in the NLRP3 inflammasome sensor that eleva...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs12551268	IL33 IL33 asthma-protective variant	Intronic IL33 variant where A-allele carriers showed a protective trend again...	Allergy & Atopic Disease	Innate Immunity	Emerging
rs28940578	MEFV M694I	Exon 10 missense variant in the inflammasome regulator pyrin, converting meth...	TNF, NF-kB & Inflammatory Cytokines	Innate Immunity	Strong
rs35947132	PRF1 A91V	Common perforin variant that reduces cytolytic activity by ~50%, acting as a ...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs12936231	ORMDL3 ORMDL3 17q21 eQTL	Regulatory tagging SNP in the 17q21 asthma locus that is the strongest eQTL f...	Allergy & Atopic Disease	Innate Immunity	Strong
rs28940579	MEFV V726A	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Innate Immunity	Strong
rs3758524	LTBR LTBR regulatory variant	Intronic regulatory variant near the lymphotoxin beta receptor gene influenci...	Innate Immunity & Infection Defense	Innate Immunity	Emerging
rs511278	FCGR2A	Intronic FCGR2A variant in linkage disequilibrium with the H131R functional p...	B-Cell Immunity & Antibody-Mediated Disease	Innate Immunity	Moderate
rs12946510	IKZF3 IKZF3 17q21 FOXO1-enhancer variant	Regulatory variant in a FOXO1-binding enhancer element flanking the IKZF3 gen...	Allergy & Atopic Disease	Innate Immunity	Strong
rs28940580	MEFV M680I	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Innate Immunity	Strong
rs3764880	TLR8 A1G	X-linked initiator codon variant in TLR8 that fine-tunes the ratio of two TLR...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs1927911	TLR4	Intronic TLR4 variant in the innate immune receptor gene; the A allele associ...	Vascular Inflammation & Remodeling	Innate Immunity	Moderate
rs3743930	MEFV E148Q	Exon 2 missense variant in the inflammasome regulator pyrin; the most common ...	TNF, NF-kB & Inflammatory Cytokines	Innate Immunity	Moderate
rs3774937	NFKB1 NFKB1 promoter/regulatory variant	Intronic NFKB1 variant with genome-wide significant associations with ulcerat...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs41298997	IKBKE	Intronic variant in IKBKE (IKK-epsilon) associated with psoriasis susceptibil...	Psoriasis & Spondyloarthropathy	Innate Immunity	Moderate
rs6837293	PRKG2	Intronic variant in PRKG2 (cGMP-dependent protein kinase II); the T allele wa...	Uric Acid & Kidney Function	Innate Immunity	Emerging
rs3775291	TLR3 Leu412Phe	Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antivir...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs3197999	MST1 R689C	Macrophage-stimulating protein variant affecting innate immune response and I...	IBD & Mucosal Immunity	Innate Immunity	Strong
rs3796508	TLR6 Val327Met	Missense variant substituting valine with methionine at position 327 of TLR6,...	Innate Immunity & Infection Defense	Innate Immunity	Emerging
rs1342326	IL33 IL33 regulatory variant	Regulatory variant upstream of IL33; the C allele elevates IL-33 expression, ...	Allergy & Atopic Disease	Innate Immunity	Strong
rs3804099	TLR2	Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splic...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs396991	FCGR3A V158F	Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs72553883	TNFRSF13B A181E	Transmembrane domain missense variant in TACI that abolishes NF-κB signaling,...	B-Cell Immunity & Antibody-Mediated Disease	Innate Immunity	Strong
rs1420101	IL1RL1	Intronic regulatory variant in IL1RL1 that lowers soluble ST2 (sST2) decoy re...	Allergy & Atopic Disease	Innate Immunity	Strong
rs397515563	DNAI1 DNAI1 IVS19+1G>A	Splice donor variant disrupting DNAI1 intron 19, causing in-frame deletion of...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs4077515	CARD9 S12N	Gain-of-function missense variant in the CARD9 adaptor protein that enhances ...	IBD & Mucosal Immunity	Innate Immunity	Strong
rs4252130	PLG PLG promoter/intronic variant	Intronic PLG variant tagging a regional haplotype that reduces plasminogen ex...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs146597587	IL33	Rare splice acceptor variant that abolishes IL-33/ST2 signalling; the C allel...	Allergy & Atopic Disease	Innate Immunity	Strong
rs4252185	PLG	Intronic PLG variant (intron 1) whose C allele is enriched in Europeans and a...	Innate Immunity & Infection Defense	Innate Immunity	Emerging
rs4648127	NFKB1 NFKB1 intronic variant	Rare protective intronic variant in the master immune transcription factor NF...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs61752717	MEFV M694V	The most common and clinically severe MEFV mutation, converting methionine to...	TNF, NF-kB & Inflammatory Cytokines	Innate Immunity	Established
rs72634030	RABEP1	Intronic RABEP1 variant associated with rheumatoid arthritis risk, acting thr...	Autoimmune Tolerance & T-Cell Regulation	Innate Immunity	Emerging
rs4696480	TLR2 T-16934A	Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, asso...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs4833095	TLR1 N248S	Missense variant replacing asparagine with serine at TLR1 position 248 in the...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs7753394	TNFAIP3	Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3 that co-...	TNF, NF-kB & Inflammatory Cytokines	Innate Immunity	Moderate
rs9807989	IL18R1	Upstream regulatory variant of IL18R1 on chromosome 2q12; the T risk allele i...	TNF, NF-kB & Inflammatory Cytokines	Innate Immunity	Moderate
rs5743618	TLR1 I602S	Coding variant replacing isoleucine with serine at TLR1 position 602, disrupt...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs5743708	TLR2 R753Q	Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs5743810	TLR6 Ser249Pro	Coding variant replacing serine with proline at TLR6 position 249, altering T...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs5743836	TLR9 Promoter -1237T/C	TLR9 promoter variant that creates an IL-6-responsive element and estrogen-se...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs6519605	TBX1	Intergenic variant on chromosome 22q11 (merged into rs133255) located downstr...	Innate Immunity & Infection Defense	Innate Immunity	Emerging
rs28362944	SERPING1	5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, re...	Hormones & Sleep	Innate Immunity	Moderate
rs7047299	IFNA21	Regulatory variant upstream of interferon alpha-21 associated with increased ...	Innate Immunity & Infection Defense	Innate Immunity	Moderate
rs73015965	PLG Lys38Glu (K38E)	Missense variant in plasminogen that reduces fibrinolytic activity and impair...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs8177374	TIRAP Ser180Leu	Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate i...	Innate Immunity & Infection Defense	Innate Immunity	Strong
rs4926	SERPING1 Val480Met	Missense variant in C1-inhibitor gene associated with insomnia risk through n...	Hormones & Sleep	Innate Immunity	Moderate
rs2305480	GSDMB GSDMB Pro311Ser protective haplotype	Missense variant in gasdermin B that increases GSDMB expression and pyroptoti...	Allergy & Atopic Disease	Innate Immunity	Strong
rs4803217	IFNL3 3'UTR	3' untranslated region variant in IFNL3 (IL28B) that controls mRNA stability ...	Pharmacogenomics	Innate Immunity	Strong
rs3771166	IL1RL1/IL18R1	GABRIEL Consortium lead GWAS SNP at the IL1RL1/IL18R1 locus on chromosome 2q1...	Allergy & Atopic Disease	Innate Immunity	Strong
rs3771175	IL1RL1 IL1RL1 receptor variant	A 3'-UTR variant in IL1RL1 (the ST2 receptor gene); the A allele increases ST...	Allergy & Atopic Disease	Innate Immunity	Moderate
rs3939286	IL33 IL33 intronic asthma variant	Regulatory variant ~5 kb upstream of IL33; the T allele is associated with in...	Allergy & Atopic Disease	Innate Immunity	Strong
rs6967330	CDHR3 C529Y	Missense variant in the rhinovirus-C receptor CDHR3 that increases cell-surfa...	Allergy & Atopic Disease	Innate Immunity	Strong
rs72823628	IL1RL1	Intronic variant in the IL1RL1/IL18R1 receptor gene cluster on chromosome 2q1...	Allergy & Atopic Disease	Innate Immunity	Moderate
rs8099917	IFNL3	Intergenic variant upstream of IFNL3 — second major IL28B locus predictor of ...	Pharmacogenomics	Innate Immunity	Established
rs950881	IL1RL1 IL1RL1 intronic variant	Intronic variant in the IL1RL1 gene on chromosome 2q12 encoding the ST2 recep...	Allergy & Atopic Disease	Innate Immunity	Moderate
rs992969	IL33	Regulatory variant upstream of IL33 encoding interleukin-33; the A allele inc...	Allergy & Atopic Disease	Innate Immunity	Strong