Tag

Immune System

109 genetic variants with this tag.

RSID	Gene	Description	Category
rs10033900	CFI	Intronic variant in complement factor I associated with age-related macular d...	Longevity & Aging	Immune System	Strong
rs1017861	CHD7 CHD7 AIS susceptibility locus	Intronic variant in CHD7, a chromatin remodeler critical for neural crest cel...	Innate Immunity & Infection Defense	Immune System	Moderate
rs10206753	IL1RL1 IL1RL1 TIR Domain Risk Haplotype	Missense variant in IL1RL1 encoding the Leu551Ser amino acid change in the in...	Allergy & Atopic Disease	Immune System	Strong
rs10516487	BANK1 R61H	BANK1 scaffold protein missense variant that shifts B-cell receptor signaling...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Strong
rs10050860	ERAP1 D575N	Missense variant (Asp575Asn) in the ERAP1 catalytic domain that modestly redu...	Psoriasis & Spondyloarthropathy	Immune System	Strong
rs10208293	IL1RL1	Intronic IL1RL1 variant tagging an independent regulatory signal at the ST2 l...	Allergy & Atopic Disease	Immune System	Moderate
rs10832310	CYP2R1	Intronic tag SNP at the CYP2R1/PDE3B locus on chromosome 11 that marks a hapl...	Vitamin D Metabolism	Immune System	Strong
rs1016140	CD58	Intronic CD58 variant with a dual role — the G allele increases T-cell activi...	Neurology & Cognition	Immune System	Moderate
rs1048990	PSMA6 PSMA6 -8C>G	5'UTR variant that enhances PSMA6 transcription, amplifying proteasome-driven...	Innate Immunity & Infection Defense	Immune System	Moderate
rs1537415	GLT6D1	Intronic variant in GLT6D1 reducing GATA-3 transcription factor binding in T ...	Dental & Oral Health	Immune System	Strong
rs12785878	DHCR7 Near gene T>G	Influences vitamin D synthesis by regulating how much 7-dehydrocholesterol is...	Vitamin D Metabolism	Immune System	Strong
rs1217414	PTPN22	Intronic PTPN22 variant independently associated with psoriasis and ankylosin...	Autoimmune Tolerance & T-Cell Regulation	Immune System	Moderate
rs1270942	CFB	Intronic variant in Complement Factor B associated with strongly elevated sys...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Strong
rs13277113	BLK	Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase ex...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Strong
rs17561	IL1A Ala114Ser	Missense variant in IL-1α (Ala114Ser) that acts as a common hypomorphic mutat...	TNF, NF-kB & Inflammatory Cytokines	Immune System	Moderate
rs2235373	IRF6	Intronic IRF6 variant associated with non-syndromic cleft lip with or without...	Dental & Oral Health	Immune System	Moderate
rs11204971	FLG FLG locus regulatory variant	Regulatory tag SNP in the filaggrin (FLG) locus associated with reduced FLG e...	Allergy & Atopic Disease	Immune System	Moderate
rs11209026	IL23R R381Q	Strongly protective variant against inflammatory bowel disease and other auto...	IBD & Mucosal Immunity	Immune System	Established
rs17266594	BANK1 Branch-point splice	Intronic branch-point variant in BANK1 that shifts isoform balance toward ful...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Strong
rs12730735	PTPN22	Intronic PTPN22 haplotype tag variant that refines autoimmune risk stratifica...	Autoimmune Tolerance & T-Cell Regulation	Immune System	Moderate
rs150597413	FLG S3247X	Nonsense variant eliminating filaggrin protein — a minor European FLG null al...	Skin & Eyes	Immune System	Strong
rs1154155	TRA	T-cell receptor alpha locus variant associated with narcolepsy susceptibility...	Hormones & Sleep	Immune System	Strong
rs1310182	PTPN22 PTPN22 Intron Variant (c.2054-852T>C)	Intronic PTPN22 variant in a transcription factor-binding site, associated wi...	Autoimmune Tolerance & T-Cell Regulation	Immune System	Moderate
rs2738058	DEFA1A3	Intergenic variant downstream of the DEFA1A3 alpha-defensin locus; T risk all...	Dental & Oral Health	Immune System	Strong
rs11466750	TSLP 3'UTR Splice Variant	3'UTR variant in TSLP that acts as an eQTL driving higher TSLP mRNA expressio...	Allergy & Atopic Disease	Immune System	Moderate
rs1800450	MBL2 Gly54Asp (variant B)	Missense variant disrupting mannose-binding lectin oligomerization, reducing ...	Innate Immunity & Infection Defense	Immune System	Strong
rs17482078	ERAP1 R725Q	Missense variant (Arg725Gln) in the ERAP1 peptide-binding domain that reduces...	Psoriasis & Spondyloarthropathy	Immune System	Strong
rs187084	TLR9 Promoter -1486T/C	Promoter variant that alters transcription factor binding and TLR9 expression...	Innate Immunity & Infection Defense	Immune System	Moderate
rs2248932	BLK Promoter/Intronic	Intronic BLK variant in the FAM167A-BLK regulatory locus that reduces B-lymph...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Strong
rs3829251	NADSYN1	Intronic NADSYN1 variant at the DHCR7/NADSYN1 vitamin D locus; A allele was t...	Vitamin D Metabolism	Immune System	Strong
rs1978060	TBX1	Intronic variant in TBX1 acting as a cis-eQTL that reduces TBX1 expression an...	Innate Immunity & Infection Defense	Immune System	Moderate
rs2105325	LOC100506023 LOC100506023 rs2105325	Intronic variant in LOC100506023 (PRDX6-AS1) and TNFSF4 at the 1q25.1 locus, ...	TNF, NF-kB & Inflammatory Cytokines	Immune System	Strong
rs2736340	BLK	FAM167A-BLK region regulatory variant that reduces B-lymphoid tyrosine kinase...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Strong
rs11650680	ORMDL3 ORMDL3 17q21 asthma susceptibility	Intronic regulatory variant in the ORMDL3 17q21 haploblock; the C allele driv...	Allergy & Atopic Disease	Immune System	Strong
rs230523	NFKB1	Intronic variant in the master immune transcription factor NF-κB1, associated...	Innate Immunity & Infection Defense	Immune System	Strong
rs34557412	TNFRSF13B TACI C104R	Missense variant in the TACI receptor's cysteine-rich ligand-binding domain t...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Strong
rs11808092	EVI5	Missense variant in EVI5's coiled-coil domain altering immune cell traffickin...	Neurology & Cognition	Immune System	Strong
rs3126085	FLG	Intronic regulatory variant in the filaggrin gene locus that reduces FLG expr...	Skin & Eyes	Immune System	Strong
rs3733197	BANK1 A383T	BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signalin...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Strong
rs26653	ERAP1	Missense variant (Arg127Pro) in ERAP1 that subtly alters ER peptide trimming ...	Psoriasis & Spondyloarthropathy	Immune System	Strong
rs705117	GC	Intronic GC variant independently associated with vitamin D binding protein (...	Vitamin D Metabolism	Immune System	Strong
rs27044	ERAP1 Gln730Glu	Missense variant in the ERAP1 C-terminal regulatory domain modulating peptide...	Psoriasis & Spondyloarthropathy	Immune System	Moderate
rs27524	ERAP1	Intronic ERAP1 variant that increases expression, raising psoriasis risk spec...	Psoriasis & Spondyloarthropathy	Immune System	Strong
rs352140	TLR9	Synonymous variant in TLR9 that increases receptor expression, amplifying inn...	Innate Immunity & Infection Defense	Immune System	Moderate
rs397507563	FLG 3702delG	Frameshift deletion in the third filaggrin repeat domain — the third most com...	Skin & Eyes	Immune System	Established
rs403016	FCGR3A	Rare missense variant in Fc gamma receptor IIIa (CD16a) causing an Arg36Ser s...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Emerging
rs7940244	NADSYN1 Near DHCR7	Intronic NADSYN1 variant in the DHCR7/NADSYN1 vitamin D locus; T allele tags ...	Vitamin D Metabolism	Immune System	Strong
rs12368672	STAT6 STAT6 intronic variant	Deep intronic variant in STAT6 that modulates IL-4/IL-13 signal transduction;...	Allergy & Atopic Disease	Immune System	Moderate
rs30187	ERAP1 K528R	Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosin...	Psoriasis & Spondyloarthropathy	Immune System	Strong
rs4151667	CFB L9H	Missense variant in the signal peptide of complement factor B forming the H10...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Strong
rs7944926	DHCR7	Near-gene intronic variant in the DHCR7/NADSYN1 locus on chromosome 11 that t...	Vitamin D Metabolism	Immune System	Strong
rs2476601	PTPN22 R620W	The strongest non-HLA autoimmune risk allele, affecting T-cell and B-cell sig...	Autoimmune Tolerance & T-Cell Regulation	Immune System	Established
rs842999	GC	Intronic GC variant tagging a haplotype associated with lower circulating 25-...	Vitamin D Metabolism	Immune System	Moderate
rs2488457	PTPN22	Promoter variant in PTPN22 that alters gene expression and modulates autoimmu...	Autoimmune Tolerance & T-Cell Regulation	Immune System	Moderate
rs4840568	BLK	Regulatory variant 2kb upstream of BLK that tags reduced B-lymphoid tyrosine ...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Moderate
rs558269137	FLG 2282del4	Frameshift deletion eliminating filaggrin protein, the second most common Eur...	Skin & Eyes	Immune System	Established
rs1831281	CFH	Intronic CFH variant that tags the complement-risk haplotype; the C allele (c...	Vascular Inflammation & Remodeling	Immune System	Moderate
rs33980500	TRAF3IP2 D10N	Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b...	Psoriasis & Spondyloarthropathy	Immune System	Strong
rs1335532	CD58	Intronic CD58 variant that sits inside the miR-548ac stem-loop; the A allele ...	Neurology & Cognition	Immune System	Strong
rs1831282	CFH	Intronic CFH variant at chromosome 1q31.3 associated with AMD risk; the C all...	Vascular Inflammation & Remodeling	Immune System	Strong
rs3764880	TLR8 A1G	X-linked initiator codon variant in TLR8 that fine-tunes the ratio of two TLR...	Innate Immunity & Infection Defense	Immune System	Strong
rs61816761	FLG R501X	Nonsense variant eliminating filaggrin protein, the major genetic risk factor...	Skin & Eyes	Immune System	Established
rs33996649	PTPN22 R263Q	Protective loss-of-function variant in the PTPN22 catalytic domain that reduc...	Autoimmune Tolerance & T-Cell Regulation	Immune System	Strong
rs3774937	NFKB1 NFKB1 promoter/regulatory variant	Intronic NFKB1 variant with genome-wide significant associations with ulcerat...	Innate Immunity & Infection Defense	Immune System	Strong
rs1414273	CD58	Intronic CD58 variant hosting the miR-548ac stem-loop; the C allele creates a...	Neurology & Cognition	Immune System	Strong
rs3775291	TLR3 Leu412Phe	Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antivir...	Innate Immunity & Infection Defense	Immune System	Strong
rs4349859	HLA-B HLA-B27 proxy	Intronic tag SNP located 41 kb centromeric of HLA-B and 5.4 kb telomeric of M...	Psoriasis & Spondyloarthropathy	Immune System	Established
rs3789604	RSBN1	Synonymous RSBN1 variant that tags a PTPN22 locus haplotype independently ass...	Autoimmune Tolerance & T-Cell Regulation	Immune System	Moderate
rs3796508	TLR6 Val327Met	Missense variant substituting valine with methionine at position 327 of TLR6,...	Innate Immunity & Infection Defense	Immune System	Emerging
rs4406273	HLA-C	Near-HLA-C intergenic variant that tags HLA-C*06:02 haplotype, conferring ris...	Psoriasis & Spondyloarthropathy	Immune System	Strong
rs6445975	PXK	Intronic PXK variant; the G allele is a replicated GWAS risk allele for syste...	B-Cell Immunity & Antibody-Mediated Disease	Immune System	Moderate
rs3804099	TLR2	Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splic...	Innate Immunity & Infection Defense	Immune System	Moderate
rs13424006	IL1RL1	Intronic IL1RL1 variant in the 10th intron of the ST2 receptor gene; C allele...	Allergy & Atopic Disease	Immune System	Moderate
rs4648127	NFKB1 NFKB1 intronic variant	Rare protective intronic variant in the master immune transcription factor NF...	Innate Immunity & Infection Defense	Immune System	Moderate
rs4696480	TLR2 T-16934A	Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, asso...	Innate Immunity & Infection Defense	Immune System	Moderate
rs4833095	TLR1 N248S	Missense variant replacing asparagine with serine at TLR1 position 248 in the...	Innate Immunity & Infection Defense	Immune System	Strong
rs4986790	TLR4 Asp299Gly	Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recogni...	Innate Immunity & Infection Defense	Immune System	Strong
rs4986791	TLR4 Thr399Ile	Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on...	Innate Immunity & Infection Defense	Immune System	Strong
rs5743618	TLR1 I602S	Coding variant replacing isoleucine with serine at TLR1 position 602, disrupt...	Innate Immunity & Infection Defense	Immune System	Strong
rs1800925	IL13 -1112C>T	Promoter variant that selectively increases IL-13 expression in Th2 lymphocyt...	Allergy & Atopic Disease	Immune System	Strong
rs5743708	TLR2 R753Q	Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to...	Innate Immunity & Infection Defense	Immune System	Strong
rs8018720	SEC23A	Missense variant in the COPII vesicle coat protein SEC23A, associated with ci...	Metabolic Enzymes & Rare Disorders	Immune System	Emerging
rs1801275	IL4R Q576R	Gain-of-function missense variant in the IL-4 receptor alpha chain that ampli...	Allergy & Atopic Disease	Immune System	Strong
rs7530511	IL23R Leu310Pro	Missense variant in the IL-23 receptor that substitutes leucine for proline a...	IBD & Mucosal Immunity	Immune System	Moderate
rs5743836	TLR9 Promoter -1237T/C	TLR9 promoter variant that creates an IL-6-responsive element and estrogen-se...	Innate Immunity & Infection Defense	Immune System	Moderate
rs1805011	IL4R IL4R Glu375Ala	Missense variant in the extracellular domain of the IL-4 receptor alpha chain...	Allergy & Atopic Disease	Immune System	Moderate
rs6519605	TBX1	Intergenic variant on chromosome 22q11 (merged into rs133255) located downstr...	Innate Immunity & Infection Defense	Immune System	Emerging
rs1837253	TSLP Upstream Variant	Upstream regulatory variant in TSLP reducing cytokine expression; the protect...	Allergy & Atopic Disease	Immune System	Strong
rs187080438	CTSS Cathepsin S antigen presentation variant	Intronic variant in the CTSS locus associated with elevated atopic dermatitis...	Allergy & Atopic Disease	Immune System	Moderate
rs1885013	RAD51B RAD51B Rheumatoid Arthritis Variant	Intronic variant in RAD51B (RAD51 paralog B), a DNA double-strand break repai...	Allergy & Atopic Disease	Immune System	Moderate
rs72553883	TNFRSF13B TACI A181E	Missense variant in the TACI transmembrane domain that disrupts receptor clus...	Innate Immunity & Infection Defense	Immune System	Strong
rs2300747	CD58	Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg...	Neurology & Cognition	Immune System	Strong
rs551397	CFH	Intronic CFH variant that tags the AMD-risk haplotype; the C allele tracks co...	Longevity & Aging	Immune System	Moderate
rs8177374	TIRAP Ser180Leu	Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate i...	Innate Immunity & Infection Defense	Immune System	Strong
rs2070874	IL4 IL4 C-33T	5'-UTR variant 33 bases downstream of the IL-4 transcription start site; the ...	Allergy & Atopic Disease	Immune System	Strong
rs2240032	RAD50 RAD50 RHS7 TH2-LCR Variant	Intronic RAD50 variant in the Th2 locus control region (RHS7); T allele alter...	Allergy & Atopic Disease	Immune System	Moderate
rs2243250	IL4 IL4 -589C>T	Promoter polymorphism 589 bases upstream of the IL-4 transcription start site...	Allergy & Atopic Disease	Immune System	Strong
rs2243290	IL4 IL4 Intron 3 Protective Haplotype Variant	Intronic IL4 variant that forms part of the protective C-G-C haplotype (rs224...	Allergy & Atopic Disease	Immune System	Moderate
rs2872507	IKZF3	17q21 regulatory variant in the IKZF3-ORMDL3-GSDMB locus with opposite effect...	Allergy & Atopic Disease	Immune System	Strong
rs76428106	FLT3 FLT3 Intronic Splice Variant	Low-frequency intronic variant in FLT3 that creates a cryptic splice site, tr...	Hormones & Sleep	Immune System	Strong
rs3771166	IL1RL1/IL18R1	GABRIEL Consortium lead GWAS SNP at the IL1RL1/IL18R1 locus on chromosome 2q1...	Allergy & Atopic Disease	Immune System	Strong
rs3806933	TSLP	Functional promoter variant in TSLP that creates an AP-1 transcription factor...	Allergy & Atopic Disease	Immune System	Moderate
rs61816766	FLG Filaggrin second variant	Intronic FLG-locus variant strongly associated with atopic dermatitis — the C...	Allergy & Atopic Disease	Immune System	Strong
rs6589702	PRG2 PRG2 Eosinophil Major Basic Protein Variant	Intergenic regulatory variant near the PRG2/PRG3 eosinophil granule protein c...	Allergy & Atopic Disease	Immune System	Emerging
rs7216389	GSDMB ORMDL3 17q21 asthma risk	Intronic GSDMB variant that acts as an eQTL for ORMDL3; the T allele elevates...	Allergy & Atopic Disease	Immune System	Established
rs8111930	MRPL4 MRPL4 Atopy-Associated Intronic Variant	Intronic variant in MRPL4 on chromosome 19p13.2 that alters transcription fac...	Allergy & Atopic Disease	Immune System	Moderate
rs6897932	IL7R T244I	Splicing variant in the IL-7 receptor alpha chain that shifts the balance tow...	Neurology & Cognition	Immune System	Strong
rs8832	IL4R IL4R 3'UTR Asthma Exacerbation Variant	3' untranslated region variant in the IL-4 receptor alpha chain gene; the G a...	Allergy & Atopic Disease	Immune System	Moderate
rs907091	IKZF3 IKZF3 miRNA Binding Region Variant	A 3'UTR variant in IKZF3 that alters miR-326 binding affinity, reducing Aiolo...	Allergy & Atopic Disease	Immune System	Moderate