Tag

Autoimmune

288 genetic variants with this tag.

RSID	Gene	Description	Category
rs1000940	RABEP1 RABEP1 Metabolic-Immune Regulatory Variant	Intronic variant in RABEP1 associated with fasting glucose modulation under p...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Emerging
rs10045431	IL12B	Upstream tagging SNP at the IL12B locus that marks the Th1/Th17 risk haplotyp...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs1004819	IL23R	Intronic IL-23 receptor variant that increases susceptibility to ankylosing s...	IBD & Mucosal Immunity	Autoimmune	Strong
rs10181656	STAT4	Intronic STAT4 tagging SNP on the primary SLE risk haplotype; the sentinel va...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs10206753	IL1RL1 IL1RL1 TIR Domain Risk Haplotype	Missense variant in IL1RL1 encoding the Leu551Ser amino acid change in the in...	Allergy & Atopic Disease	Autoimmune	Strong
rs10499194	TNFAIP3	Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protecti...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs10516487	BANK1 R61H	BANK1 scaffold protein missense variant that shifts B-cell receptor signaling...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs10050860	ERAP1 D575N	Missense variant (Asp575Asn) in the ERAP1 catalytic domain that modestly redu...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs10488631	IRF5	Near-gene regulatory variant tagging an IRF5 haplotype that elevates interfer...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs104895431	NOD2	Rare NOD2 missense variant (Ser431Leu) that reduces NF-κB activation in respo...	IBD & Mucosal Immunity	Autoimmune	Strong
rs1064793792	SERPING1	Frameshift deletion in SERPING1 eliminating C1-inhibitor function — causes he...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Established
rs10818488	TRAF1 TRAF1-C5 rheumatoid arthritis variant	Intergenic regulatory variant between TRAF1 and C5 on chromosome 9; the A all...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs11568821	LOC105373977 PDCD1/LOC105373977 PD1.3	Intronic regulatory variant near the PDCD1 (PD-1) immune checkpoint locus tha...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs1016140	CD58	Intronic CD58 variant with a dual role — the G allele increases T-cell activi...	Neurology & Cognition	Autoimmune	Moderate
rs104895444	NOD2	Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; c...	IBD & Mucosal Immunity	Autoimmune	Moderate
rs1064793917	SERPING1	Frameshift deletion in SERPING1 (p.Lys390fs) abolishing C1-inhibitor producti...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Established
rs10794648	IFNLR1/GRHL3	Intergenic regulatory variant near IFNLR1 that contacts GRHL3 via chromatin l...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Moderate
rs10984447	DBC1 DBC1 multiple sclerosis susceptibility variant	Intronic variant in DBC1 (DBCCR1/BRINP1) at 9q33.1 associated with multiple s...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Moderate
rs11652075	CARD14 CARD14 Arg820Trp (R820W)	Missense variant in the keratinocyte NF-κB scaffold protein CARD14 that modes...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs12101255	TSHR	Intronic regulatory variant in TSHR intron 1; the T allele disrupts thymic ex...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs1050152	SLC22A4 OCTN1 L503F	Missense variant in SLC22A4 encoding the organic cation/ergothioneine transpo...	Allergy & Atopic Disease	Autoimmune	Strong
rs10800309	FCGR2A FCGR2A intronic variant	Intronic upstream variant in FCGR2A that modulates surface expression of the ...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Moderate
rs12101261	TSHR TSHR Intron 1 Adjacent Regulatory Variant	Intronic regulatory variant in TSHR intron 1 that is the primary PLZF repress...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs10489629	IL23R	Intronic IL23R variant in LD block 2 where the T allele is associated with in...	IBD & Mucosal Immunity	Autoimmune	Strong
rs11264799	FCRL3	Upstream regulatory variant in FCRL3 with a strong eQTL effect on FCRL3 expre...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Emerging
rs11269962	IRF5 Regulatory	A 14-bp indel 2.2 kb upstream of IRF5 that is the most strongly associated ci...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Moderate
rs1143634	IL1B +3954C>T	Synonymous exon 5 variant in IL-1β that increases IL-1β protein secretion des...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs1217414	PTPN22	Intronic PTPN22 variant independently associated with psoriasis and ankylosin...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs12191877	HLA-C Tag for *06:02	Tag SNP for HLA-C*06:02, the strongest genetic risk factor for psoriasis, det...	Psoriasis & Spondyloarthropathy	Autoimmune	Established
rs10849448	LTBR	Regulatory variant in the lymphotoxin beta receptor gene associated with incr...	Innate Immunity & Infection Defense	Autoimmune	Strong
rs1234314	TNFSF4	Intronic variant in TNFSF4 that reduces OX40 ligand promoter activity and is ...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Moderate
rs1270942	CFB	Intronic variant in Complement Factor B associated with strongly elevated sys...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs12720270	TYK2 TYK2 Intron 7 Splicing Variant	An intronic variant in TYK2 intron 7 that promotes exon 8 inclusion in the ma...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs12883343	NFKBIA NFKBIA/IkB-alpha variant	Regulatory variant near NFKBIA that specifically elevates risk for psoriatic ...	Psoriasis & Spondyloarthropathy	Autoimmune	Moderate
rs13207033	TNFAIP3	Intergenic protective variant near TNFAIP3 that tags a haplotype associated w...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs10889677	IL23R	3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — th...	IBD & Mucosal Immunity	Autoimmune	Strong
rs11079788	TBX21 TBX21 Regulatory Variant	Intronic regulatory variant in TBX21 that influences T-bet expression and Th1...	Allergy & Atopic Disease	Autoimmune	Emerging
rs12720356	TYK2 Ile684Ser	A missense variant in the TYK2 pseudokinase (JH2) domain that partially impai...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs13190932	TRAF3IP2 R74W	Missense variant in the IL-17 adaptor Act1 (Arg74Trp) that is the primary GWA...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs13245639	IRF5 Regulatory	Cis-regulatory IRF5 variant in near-perfect LD (r²=0.97) with the rs729302 pr...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Moderate
rs13277113	BLK	Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase ex...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs17561	IL1A Ala114Ser	Missense variant in IL-1α (Ala114Ser) that acts as a common hypomorphic mutat...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Moderate
rs1058932	CYP2C8	CYP2C8 3-prime UTR variant associated with cardiovascular risk via altered ep...	Pharmacogenomics	Autoimmune	Moderate
rs11052552	CLECL1	Intronic variant in CLECL1, a dendritic-cell costimulatory C-type lectin, ass...	Appetite & Obesity	Autoimmune	Moderate
rs11204971	FLG FLG locus regulatory variant	Regulatory tag SNP in the filaggrin (FLG) locus associated with reduced FLG e...	Allergy & Atopic Disease	Autoimmune	Moderate
rs11209026	IL23R R381Q	Strongly protective variant against inflammatory bowel disease and other auto...	IBD & Mucosal Immunity	Autoimmune	Established
rs12722489	IL2RA	Intronic variant in IL2RA intron 1 that creates an estrogen-responsive enhanc...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs13193677	TRAF3IP2	Intronic variant near the TRAF3IP2 locus (annotated in IPCEF1 at chr6q25.2 by...	Psoriasis & Spondyloarthropathy	Autoimmune	Moderate
rs17266594	BANK1 Branch-point splice	Intronic branch-point variant in BANK1 that shifts isoform balance toward ful...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs17881320	STAT3 JAK-STAT3 Signaling Variant	Intronic STAT3 variant associated with increased atopic dermatitis risk (OR=1...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs1800871	IL10 -819 C>T	Promoter variant in the IL-10 haplotype system — regulates IL-10 anti-inflamm...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs1801690	APOH Trp316Ser	Missense variant in APOH (beta-2-glycoprotein I) that disrupts the phospholip...	Atherogenic Lipoproteins	Autoimmune	Moderate
rs11229030	PRG2	Intergenic tag SNP in the PRG2/PRG3 eosinophil major basic protein gene clust...	Allergy & Atopic Disease	Autoimmune	Moderate
rs12730735	PTPN22	Intronic PTPN22 haplotype tag variant that refines autoimmune risk stratifica...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs13196377	TRAF3IP2 Intronic haplotype member	Intronic tagging variant in the TRAF3IP2/TRAF3IP2-AS1 locus that distinguishe...	Psoriasis & Spondyloarthropathy	Autoimmune	Moderate
rs1800896	IL10 -1082 A>G	Promoter variant affecting IL-10 production — the master anti-inflammatory cy...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs1801274	FCGR2A H131R	Missense variant in Fc gamma receptor IIa that substitutes histidine (H131, h...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs225011	DIO2	Intronic DIO2 variant nominally associated with Graves' disease susceptibilit...	Vitamin D Metabolism	Autoimmune	Emerging
rs11236797	LRRC32	Regulatory variant in a distal enhancer at 11q13.5 that controls GARP express...	Allergy & Atopic Disease	Autoimmune	Strong
rs11465770	IL23R	Intronic IL23R variant whose minor T allele tags a protective haplotype that ...	IBD & Mucosal Immunity	Autoimmune	Moderate
rs1154155	TRA	T-cell receptor alpha locus variant associated with narcolepsy susceptibility...	Hormones & Sleep	Autoimmune	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	Autoimmune	Moderate
rs13210247	TRAF3IP2	Intronic variant in the TRAF3IP2 locus that lies within the antisense lncRNA ...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs1861494	IFNG IFNG Interferon Gamma	Intronic IFNG variant that modulates interferon-gamma expression, with the T ...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Moderate
rs1883832	CD40 Kozak -1C>T	Kozak sequence variant at position −1 of the CD40 start codon — the C allele ...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs11465804	IL23R	Intronic IL23R variant in strong linkage disequilibrium with the functional R...	IBD & Mucosal Immunity	Autoimmune	Strong
rs1205	CRP +1846C>T	3' UTR variant that modulates baseline C-reactive protein levels and inflamma...	Vascular Inflammation & Remodeling	Autoimmune	Strong
rs12212067	FOXO3	Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription fac...	Longevity & Aging	Autoimmune	Strong
rs1539243	IKBKE IKBKE Ile67 synonymous variant	Synonymous coding variant in exon 4 of IKBKE (IKK-epsilon); the C allele tags...	Psoriasis & Spondyloarthropathy	Autoimmune	Moderate
rs16840252	CTLA4	Upstream promoter variant (~1147 bp 5' of CTLA4) tagging an autoimmune-associ...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs201363394	SERPING1 Arg400Cys	Pathogenic missense variant in SERPING1 encoding C1-inhibitor; the Arg400Cys ...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Established
rs12044149	IL23R	Regulatory variant upstream of the IL-23 receptor gene more strongly associat...	IBD & Mucosal Immunity	Autoimmune	Strong
rs17085007	USP12	Regulatory variant at the chromosome 13q12 locus that tags a region upstream ...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs17482078	ERAP1 R725Q	Missense variant (Arg725Gln) in the ERAP1 peptide-binding domain that reduces...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs187084	TLR9 Promoter -1486T/C	Promoter variant that alters transcription factor binding and TLR9 expression...	Innate Immunity & Infection Defense	Autoimmune	Moderate
rs201408742	GPR174	X-linked intergenic variant near GPR174 (G protein-coupled receptor 174), a l...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Emerging
rs2248932	BLK Promoter/Intronic	Intronic BLK variant in the FAM167A-BLK regulatory locus that reduces B-lymph...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs116855232	NUDT15 Arg139Cys	Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc...	Pharmacogenomics	Autoimmune	Established
rs17166496	FSTL4 FSTL4 rs17166496	Intronic variant in FSTL4 (Follistatin-Like 4) on chromosome 5q31; heterozygo...	Appetite & Obesity	Autoimmune	Emerging
rs17728338	TNIP1 TNIP1/ABIN1 variant	Intergenic regulatory variant near TNIP1 whose A allele reduces ABIN1-mediate...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs179247	TSHR TSHR Intron 1 Graves' Disease Risk Variant	Intronic regulatory variant in TSHR intron 1; the A allele reduces thymic exp...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs1898830	TLR2	Intronic TLR2 variant that modulates innate immune signaling intensity; G all...	Innate Immunity & Infection Defense	Autoimmune	Moderate
rs2043211	CARD8 C10X	Truncating variant in the NLRP3 inflammasome brake that abolishes CARD8's cas...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Moderate
rs2269475	AIF1 AIF1 Arg69Trp	Missense variant in allograft inflammatory factor 1 (Iba1), a macrophage-expr...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Moderate
rs11650354	TBX21 TBX21 Region Variant	Intronic variant in TBX21 that forms a risk haplotype with rs16947078; the T ...	Allergy & Atopic Disease	Autoimmune	Strong
rs2104286	IL2RA	Intronic variant affecting IL-2 receptor alpha chain expression and soluble I...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs2105325	LOC100506023 LOC100506023 rs2105325	Intronic variant in LOC100506023 (PRDX6-AS1) and TNFSF4 at the 1q25.1 locus, ...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs2234067	ETV7 ETV7 rs2234067	Upstream regulatory variant near ETV7, an interferon-inducible transcriptiona...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs2736340	BLK	FAM167A-BLK region regulatory variant that reduces B-lymphoid tyrosine kinase...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs1343151	IL23R	Intronic IL23R variant whose minor A allele tags the protective haplotype for...	IBD & Mucosal Immunity	Autoimmune	Moderate
rs201227603	HPS3 HPS3 Splice Donor Variant	Splice donor variant in HPS3 that disrupts exon 5 inclusion, causing Hermansk...	Innate Immunity & Infection Defense	Autoimmune	Established
rs2108225	SLC26A3 SLC26A3 Ulcerative Colitis Susceptibility Variant	Regulatory variant at the SLC26A3 locus associated with ulcerative colitis su...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs2201841	IL23R	Intronic variant in the IL-23 receptor gene associated with increased risk of...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs2280714	IRF5 3'UTR	Downstream regulatory variant in the IRF5 3' region that elevates IRF5 mRNA e...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Moderate
rs28929454	SERPINA1	SERPINA1 intronic variant strongly associated with elevated mortality in ANCA...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Emerging
rs4752	GC GC rs4752	Synonymous variant in vitamin D binding protein that tags distinct GC haploty...	Vitamin D Metabolism	Autoimmune	Moderate
rs11657479	TBX21 TBX21 3' UTR Variant	A 3' UTR variant in TBX21 (c.*169T>C) that modulates T-bet expression; the C ...	Allergy & Atopic Disease	Autoimmune	Moderate
rs1495965	IL23R	Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated ...	IBD & Mucosal Immunity	Autoimmune	Strong
rs2230926	TNFAIP3 F127C	Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negat...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs2256774	IL2RA	Intronic IL2RA variant that modulates soluble IL-2RA shedding and Treg signal...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs2364480	LTBR	Synonymous coding variant in the lymphotoxin-beta receptor gene associated wi...	Psoriasis & Spondyloarthropathy	Autoimmune	Moderate
rs3024491	IL10 Intronic variant	Intronic IL10 variant that reduces anti-inflammatory cytokine production, ind...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Moderate
rs11808092	EVI5	Missense variant in EVI5's coiled-coil domain altering immune cell traffickin...	Neurology & Cognition	Autoimmune	Strong
rs12123821	FLG Filaggrin skin barrier variant	Common regulatory variant in the FLG locus associated with impaired skin barr...	Allergy & Atopic Disease	Autoimmune	Strong
rs146582474	SLC7A7	Finnish founder splice acceptor mutation abolishing y+LAT1 transport activity...	Metabolic Enzymes & Rare Disorders	Autoimmune	Established
rs2233434	NFKBIE	Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs2268458	TSHR TSHR Intron 1 Meta-Analysis Variant	Intronic variant in TSHR intron 1; the C allele increases susceptibility to G...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs2546890	LOC285626 LOC285626 rs2546890	Regulatory variant upstream of IL12B associated with increased risk of multip...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs3024505	IL10 3' downstream variant	Downstream IL10 enhancer variant that disrupts a STAT3 binding site, reducing...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs3733197	BANK1 A383T	BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signalin...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs12133641	IL6R IL-6 receptor intronic variant	Deep intronic IL6R variant associated with atopic dermatitis risk and systemi...	Allergy & Atopic Disease	Autoimmune	Strong
rs149007883	NFKBIZ NFKBIZ p.Gly102Ala	Rare protective missense variant in the NF-kB inhibitor zeta gene that reduce...	Hormones & Sleep	Autoimmune	Moderate
rs2234663	IL1RN	Intron 2 VNTR polymorphism in IL1RN that alters IL-1Ra isoform balance and is...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs2304256	TYK2 TYK2 V362F	A common missense and splicing variant in TYK2 that promotes exon 8 inclusion...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs26653	ERAP1	Missense variant (Arg127Pro) in ERAP1 that subtly alters ER peptide trimming ...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs28362491	NFKB1 -94ins/delATTG	Promoter insertion/deletion polymorphism reducing NF-κB p50 transcription and...	Innate Immunity & Infection Defense	Autoimmune	Strong
rs3738919	ITGAV ITGAV integrin alpha-V variant	Intronic ITGAV variant associated with rheumatoid arthritis susceptibility in...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Emerging
rs12044852	CD58	Intronic CD58 variant in strong LD with rs2300747 (r²=0.929); the C allele dr...	Neurology & Cognition	Autoimmune	Strong
rs2275913	IL17A -197G>A	Promoter variant in the NFAT binding site that increases IL-17A transcription...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs231775	CTLA4 Thr17Ala	Missense variant in the CTLA-4 leader peptide that reduces surface expression...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs27044	ERAP1 Gln730Glu	Missense variant in the ERAP1 C-terminal regulatory domain modulating peptide...	Psoriasis & Spondyloarthropathy	Autoimmune	Moderate
rs3131379	MSH5	Intronic variant in the HLA class III region near MSH5 associated with lupus ...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs12251307	IL2RA IL-2 receptor alpha chain variant	Intergenic variant 19 kb downstream of IL2RA associated with atopic dermatiti...	Allergy & Atopic Disease	Autoimmune	Strong
rs1799987	CCR5 CCR5 Promoter -2459A>G	Regulatory variant in the CCR5 promoter that reduces CCR5 expression by ~45%;...	Vascular Inflammation & Remodeling	Autoimmune	Moderate
rs231806	CTLA4	Upstream regulatory variant in the CTLA4 MH30 region associated with latent a...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Emerging
rs27524	ERAP1	Intronic ERAP1 variant that increases expression, raising psoriasis risk spec...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs352140	TLR9	Synonymous variant in TLR9 that increases receptor expression, amplifying inn...	Innate Immunity & Infection Defense	Autoimmune	Moderate
rs403016	FCGR3A	Rare missense variant in Fc gamma receptor IIIa (CD16a) causing an Arg36Ser s...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Emerging
rs419788	SKIV2L	Intronic SKIV2L variant in the MHC class III region; the T allele tags an ind...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Moderate
rs17493811	AGER	Tag SNP in the AGER 3′ downstream region associated with increased type 1 dia...	Hormones & Sleep	Autoimmune	Moderate
rs2469434	CD226	Deep-intronic variant in the CD226 (DNAM-1) co-stimulatory receptor gene asso...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs2501401	CNR2	Intronic eQTL in CNR2 (cannabinoid receptor 2) that modulates receptor expres...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Emerging
rs30187	ERAP1 K528R	Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosin...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs4151667	CFB L9H	Missense variant in the signal peptide of complement factor B forming the H10...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs4728142	IRF5 Promoter Indel Tag (CGGGG insertion)	Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromati...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs2476601	PTPN22 R620W	The strongest non-HLA autoimmune risk allele, affecting T-cell and B-cell sig...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Established
rs2501431	CNR2 CNR2 rs2501431	Synonymous coding variant in the cannabinoid receptor 2 gene that tags a hapl...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Moderate
rs3129878	HLA-DRA HLA-DRA Variant	Intronic variant in the HLA class II region associated with nonobstructive az...	Endometriosis & Uterine Health	Autoimmune	Strong
rs4810485	CD40	Intronic variant in CD40 regulating B-cell surface expression; the G allele d...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs660895	HLA-DRB1	Regulatory tag SNP in the HLA-DRB1 region; the G allele marks the HLA-DRB1*04...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs2488457	PTPN22	Promoter variant in PTPN22 that alters gene expression and modulates autoimmu...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs28940578	MEFV M694I	Exon 10 missense variant in the inflammasome regulator pyrin, converting meth...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs35947132	PRF1 A91V	Common perforin variant that reduces cytolytic activity by ~50%, acting as a ...	Innate Immunity & Infection Defense	Autoimmune	Strong
rs4840568	BLK	Regulatory variant 2kb upstream of BLK that tags reduced B-lymphoid tyrosine ...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Moderate
rs6910071	TSBP1	MHC-region intronic variant tagging HLA-DRB1 shared epitope haplotypes; G all...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs12936231	ORMDL3 ORMDL3 17q21 eQTL	Regulatory tagging SNP in the 17q21 asthma locus that is the strongest eQTL f...	Allergy & Atopic Disease	Autoimmune	Strong
rs28940579	MEFV V726A	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs33980500	TRAF3IP2 D10N	Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs3758524	LTBR LTBR regulatory variant	Intronic regulatory variant near the lymphotoxin beta receptor gene influenci...	Innate Immunity & Infection Defense	Autoimmune	Emerging
rs511278	FCGR2A	Intronic FCGR2A variant in linkage disequilibrium with the H131R functional p...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Moderate
rs729302	IRF5	Near-gene variant tagging an IRF5 protective haplotype in the 5' promoter reg...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs12946510	IKZF3 IKZF3 17q21 FOXO1-enhancer variant	Regulatory variant in a FOXO1-binding enhancer element flanking the IKZF3 gen...	Allergy & Atopic Disease	Autoimmune	Strong
rs1335532	CD58	Intronic CD58 variant that sits inside the miR-548ac stem-loop; the A allele ...	Neurology & Cognition	Autoimmune	Strong
rs28940580	MEFV M680I	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs3134883	IL2RA	Intronic IL2RA variant independently associated with rheumatoid arthritis ris...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs3805435	TNIP1	Intronic variant in the GPX3/TNIP1 regulatory locus on chromosome 5; the C al...	Psoriasis & Spondyloarthropathy	Autoimmune	Moderate
rs547154	C2 IVS10	Intronic C2 variant forming the H7 protective haplotype with CFB R32Q, reduci...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs1295685	IL13	3'-UTR regulatory variant in IL13 that influences IL-13 mRNA stability and ex...	Allergy & Atopic Disease	Autoimmune	Moderate
rs2301436	FGFR1OP	Intronic variant in FGFR1OP (CEP43) at the RNASET2-FGFR1OP-CCR6 autoimmune su...	IBD & Mucosal Immunity	Autoimmune	Strong
rs3184504	SH2B3 R262W	Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing b...	Coronary Artery Disease & Atherosclerosis	Autoimmune	Strong
rs33996649	PTPN22 R263Q	Protective loss-of-function variant in the PTPN22 catalytic domain that reduc...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs3743930	MEFV E148Q	Exon 2 missense variant in the inflammasome regulator pyrin; the most common ...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Moderate
rs3774937	NFKB1 NFKB1 promoter/regulatory variant	Intronic NFKB1 variant with genome-wide significant associations with ulcerat...	Innate Immunity & Infection Defense	Autoimmune	Strong
rs41298997	IKBKE	Intronic variant in IKBKE (IKK-epsilon) associated with psoriasis susceptibil...	Psoriasis & Spondyloarthropathy	Autoimmune	Moderate
rs55687265	ATP8B4 ATP8B4 Phospholipid Flippase F436L	Missense variant in ATP8B4 converting phenylalanine to leucine at position 43...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Moderate
rs7514229	TNFSF4 TNFSF4 OX40 ligand variant	Intronic variant in TNFSF4 that tags an upstream regulatory haplotype associa...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Moderate
rs1414273	CD58	Intronic CD58 variant hosting the miR-548ac stem-loop; the C allele creates a...	Neurology & Cognition	Autoimmune	Strong
rs2631367	SLC22A5 OCTN2 -207C>G	Promoter variant in SLC22A5 (OCTN2) that reduces carnitine transporter expres...	IBD & Mucosal Immunity	Autoimmune	Strong
rs35018800	TYK2 TYK2 Ala928Val	A rare missense variant in the TYK2 pseudokinase (JH2) domain that partially ...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs3748067	IL17A	3'UTR variant in IL-17A that alters post-transcriptional regulation via miRNA...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Moderate
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	Autoimmune	Established
rs641153	CFB R32Q	Protective missense variant in complement factor B that reduces alternative p...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs7574865	STAT4 Intron 3	Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs13408661	IL1RL1	Intronic variant in IL1RL1 (encoding the ST2 receptor for IL-33) tagging hapl...	Allergy & Atopic Disease	Autoimmune	Moderate
rs3197999	MST1 R689C	Macrophage-stimulating protein variant affecting innate immune response and I...	IBD & Mucosal Immunity	Autoimmune	Strong
rs3761847	TRAF1	Intronic GWAS variant in the TRAF1-C5 locus on chromosome 9 robustly associat...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs3789604	RSBN1	Synonymous RSBN1 variant that tags a PTPN22 locus haplotype independently ass...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs4406273	HLA-C	Near-HLA-C intergenic variant that tags HLA-C*06:02 haplotype, conferring ris...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs498422	LOC101929163 LOC101929163 Variant	Intronic variant in TSBP1-AS1 (LOC101929163), a non-coding antisense RNA in t...	Endometriosis & Uterine Health	Autoimmune	Emerging
rs6445975	PXK	Intronic PXK variant; the G allele is a replicated GWAS risk allele for syste...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Moderate
rs1342326	IL33 IL33 regulatory variant	Regulatory variant upstream of IL33; the C allele elevates IL-33 expression, ...	Allergy & Atopic Disease	Autoimmune	Strong
rs3790565	IL12RB2	Intronic IL12RB2 variant associated with IL-12 signaling pathway variation an...	IBD & Mucosal Immunity	Autoimmune	Moderate
rs3816769	STAT3 STAT3 co-variant	Intronic STAT3 variant where the T allele (reference, ~66%) increases risk fo...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Moderate
rs41295061	IL2RA	Regulatory variant in the IL2RA locus altering LEF1 transcription factor bind...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs582757	TNFAIP3 TNFAIP3 A20 regulatory variant	Intronic regulatory variant in TNFAIP3 — the primary NF-kB brake gene — with ...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs7151526	SERPINA1	Regulatory variant downstream of SERPINA1 associated with increased susceptib...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Moderate
rs9268839	HLA-DRA	Intergenic tag SNP upstream of HLA-DRA; the G allele is the primary GWAS sign...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs2016105	ELK3 ELK3 TSH regulatory variant	Intronic regulatory variant in ELK3 influencing circulating TSH levels and hy...	Hormones & Sleep	Autoimmune	Strong
rs3890745	MMEL1 MMEL1 rs3890745	Intronic variant near MMEL1 and TNFRSF14 on chromosome 1p36; the C allele is ...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs396991	FCGR3A V158F	Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig...	Innate Immunity & Infection Defense	Autoimmune	Strong
rs559406	PTPN2	Intronic PTPN2 variant whose G allele reduces T-cell protein tyrosine phospha...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs610604	TNFAIP3	Intronic variant in TNFAIP3 whose G allele is the primary psoriasis susceptib...	Psoriasis & Spondyloarthropathy	Autoimmune	Strong
rs9277535	HLA-DPB1	3' UTR eQTL that reduces HLA-DPB1 expression, impairing antigen presentation ...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs1420101	IL1RL1	Intronic regulatory variant in IL1RL1 that lowers soluble ST2 (sST2) decoy re...	Allergy & Atopic Disease	Autoimmune	Strong
rs397515563	DNAI1 DNAI1 IVS19+1G>A	Splice donor variant disrupting DNAI1 intron 19, causing in-frame deletion of...	Innate Immunity & Infection Defense	Autoimmune	Strong
rs4845625	IL6R	Intronic IL6R variant associated with coronary artery disease risk, elevated ...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Moderate
rs5742909	CTLA4 Promoter -318C/T	Promoter variant that increases CTLA-4 transcription; T allele carriers show ...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Moderate
rs61751629	CARD14 Glu422Lys	Rare missense variant in the keratinocyte NF-κB scaffold protein CARD14 that ...	Psoriasis & Spondyloarthropathy	Autoimmune	Emerging
rs7528684	FCRL3 -169C>T	Promoter variant in FCRL3 that alters NF-κB binding and elevates FCRL3 expres...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Moderate
rs9378815	IRF4	Regulatory variant ~15 kb upstream of IRF4 that modulates germinal center B c...	Interferon Signaling & Systemic Autoimmune	Autoimmune	Strong
rs4562997	SMAD3	Second intronic enhancer variant in SMAD3 that modulates TGF-beta effector si...	IBD & Mucosal Immunity	Autoimmune	Moderate
rs5029937	TNFAIP3	Intronic risk variant within TNFAIP3 intron 2 that independently increases su...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs7234029	PTPN2	Intronic PTPN2 variant that reduces expression of T-cell protein tyrosine pho...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs7951	C3	Synonymous C3 variant associated with reduced serum complement C3 levels and ...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Moderate
rs17696736	NAA25 NAA25 G/A	Intronic tag SNP at the 12q24 locus that captures SH2B3/LNK regulatory variat...	Blood Sugar & Diabetes	Autoimmune	Strong
rs492602	FUT2 FUT2 secretor status proxy	A synonymous FUT2 proxy variant in strong LD with the W143X nonsense allele (...	IBD & Mucosal Immunity	Autoimmune	Strong
rs5029939	TNFAIP3	Intronic variant near TNFAIP3 that tags a 6q23 haplotype strongly associated ...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs7152376	NFKBIA	Regulatory variant upstream of NFKBIA that specifically elevates risk of psor...	Psoriasis & Spondyloarthropathy	Autoimmune	Moderate
rs725613	CLEC16A	Intronic variant in the autophagy regulator CLEC16A that alters thymic T-cell...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs9332736	C2 28bp deletion (type I C2 deficiency)	Frameshift deletion in C2 exon 6 causing complete complement C2 deficiency, i...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs167769	STAT6	Intronic variant in STAT6 (intron 2) that forms a functional haplotype with r...	Allergy & Atopic Disease	Autoimmune	Strong
rs4958847	IRGM	Intronic IRGM variant that impairs autophagy-mediated clearance of intracellu...	IBD & Mucosal Immunity	Autoimmune	Strong
rs61752717	MEFV M694V	The most common and clinically severe MEFV mutation, converting methionine to...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Established
rs72634030	RABEP1	Intronic RABEP1 variant associated with rheumatoid arthritis risk, acting thr...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Emerging
rs9332739	C2 E318D	Missense variant in complement component C2 forming a protective haplotype wi...	B-Cell Immunity & Antibody-Mediated Disease	Autoimmune	Strong
rs16947078	TBX21 TBX21 T-bet asthma variant	Intergenic regulatory variant near TBX21 associated with allergic asthma susc...	Allergy & Atopic Disease	Autoimmune	Strong
rs516246	FUT2 FUT2 rs516246	Intronic FUT2 proxy variant tagging secretor status — whether ABO blood group...	IBD & Mucosal Immunity	Autoimmune	Strong
rs6920220	TNFAIP3	Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impair...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Strong
rs763361	CD226 Gly307Ser	Missense variant in the T-cell and NK-cell co-stimulatory receptor CD226 (DNA...	Autoimmune Tolerance & T-Cell Regulation	Autoimmune	Strong
rs17250932	TBX21 TBX21 Promoter Variant	Upstream promoter variant in TBX21 that reduces neonatal IL-5 and IL-13 secre...	Allergy & Atopic Disease	Autoimmune	Emerging
rs6693831	IL23R	Intronic IL23R variant where the minor T allele is associated with increased ...	IBD & Mucosal Immunity	Autoimmune	Moderate
rs763780	IL17F His161Arg	Missense variant that reduces IL-17F bioactivity and acts as a natural IL-17F...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Moderate
rs17293632	SMAD3	Intronic regulatory variant in SMAD3 that alters TGF-beta effector signaling ...	Allergy & Atopic Disease	Autoimmune	Strong
rs4986790	TLR4 Asp299Gly	Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recogni...	Innate Immunity & Infection Defense	Autoimmune	Strong
rs689466	PTGS2 A-1195G	Promoter variant in the PTGS2/COX-2 gene that reduces baseline COX-2 expressi...	IBD & Mucosal Immunity	Autoimmune	Moderate
rs7753394	TNFAIP3	Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3 that co-...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Moderate
rs17612852	HLA-DQA1 HLA-DQA1 Peanut Allergy Tag SNP	Intronic tag SNP in HLA-DQA1 in strong LD with HLA-DQA1*01:02; the G allele i...	Allergy & Atopic Disease	Autoimmune	Strong
rs4986791	TLR4 Thr399Ile	Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on...	Innate Immunity & Infection Defense	Autoimmune	Strong
rs6908425	CDKAL1	Intronic variant in CDKAL1, a tRNA methylthiotransferase gene; the C allele i...	IBD & Mucosal Immunity	Autoimmune	Strong
rs9807989	IL18R1	Upstream regulatory variant of IL18R1 on chromosome 2q12; the T risk allele i...	TNF, NF-kB & Inflammatory Cytokines	Autoimmune	Moderate
rs17699436	TBX21 TBX21 Downstream Regulatory Variant	Intergenic variant 5 kb downstream of TBX21 (encoding the T-bet transcription...	Allergy & Atopic Disease	Autoimmune	Moderate
rs1800693	TNFRSF1A	Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking ...	Neurology & Cognition	Autoimmune	Strong
rs6974491	ELMO1	Intronic ELMO1 variant acting as an eQTL that modulates engulfment and cell m...	IBD & Mucosal Immunity	Autoimmune	Moderate
rs7517847	IL23R	Intronic IL23R variant in which the T allele increases susceptibility to Croh...	IBD & Mucosal Immunity	Autoimmune	Strong
rs7530511	IL23R Leu310Pro	Missense variant in the IL-23 receptor that substitutes leucine for proline a...	IBD & Mucosal Immunity	Autoimmune	Moderate
rs5743836	TLR9 Promoter -1237T/C	TLR9 promoter variant that creates an IL-6-responsive element and estrogen-se...	Innate Immunity & Infection Defense	Autoimmune	Moderate
rs187080438	CTSS Cathepsin S antigen presentation variant	Intronic variant in the CTSS locus associated with elevated atopic dermatitis...	Allergy & Atopic Disease	Autoimmune	Moderate
rs7091565	ANXA11 ANXA11 rs7091565	3' UTR variant in ANXA11 (annexin A11) in strong LD with the functional R230C...	Innate Immunity & Infection Defense	Autoimmune	Moderate
rs1885013	RAD51B RAD51B Rheumatoid Arthritis Variant	Intronic variant in RAD51B (RAD51 paralog B), a DNA double-strand break repai...	Allergy & Atopic Disease	Autoimmune	Moderate
rs34536443	TYK2 TYK2 p.Pro1104Ala	A missense variant in TYK2 that partially impairs JAK-family signaling downst...	Hormones & Sleep	Autoimmune	Strong
rs72553883	TNFRSF13B TACI A181E	Missense variant in the TACI transmembrane domain that disrupts receptor clus...	Innate Immunity & Infection Defense	Autoimmune	Strong
rs1898671	TSLP TSLP Intronic Variant (Atopic Dermatitis)	Intronic TSLP variant that modulates thymic stromal lymphopoietin activity, w...	Allergy & Atopic Disease	Autoimmune	Moderate
rs1950897	RAD51B RAD51B Intronic RA Susceptibility Variant	Intronic variant in RAD51B on chromosome 14; the T allele is associated with ...	Allergy & Atopic Disease	Autoimmune	Strong
rs2300747	CD58	Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg...	Neurology & Cognition	Autoimmune	Strong
rs2040410	HLA-DQA1 HLA-DQ Autoimmune Tag SNP	Intronic tag SNP near HLA-DQA1 that marks the DR3 (DRB10301-DQA10501-DQB1*0...	Allergy & Atopic Disease	Autoimmune	Strong
rs8177374	TIRAP Ser180Leu	Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate i...	Innate Immunity & Infection Defense	Autoimmune	Strong
rs2040704	RAD50 RAD50/IL13 5q31 Atopic March Locus	Intronic variant in the RAD50/TH2LCRR region at 5q31.1 that tags an enhancer ...	Allergy & Atopic Disease	Autoimmune	Moderate
rs20541	IL13 R130Q	Missense variant in IL-13 that enhances Th2 cytokine signaling, elevating ser...	Allergy & Atopic Disease	Autoimmune	Strong
rs2069705	IFNG IFNG Promoter -1616C/T	Upstream regulatory variant ~1,616 bp before the IFNG transcription start sit...	Allergy & Atopic Disease	Autoimmune	Moderate
rs2070874	IL4 IL4 C-33T	5'-UTR variant 33 bases downstream of the IL-4 transcription start site; the ...	Allergy & Atopic Disease	Autoimmune	Strong
rs2158177	TH2LCRR RAD50/IL13 Region Variant	Intronic variant in TH2LCRR, a long noncoding RNA residing in the 5q31.1 RAD5...	Allergy & Atopic Disease	Autoimmune	Moderate
rs2227284	IL4 IL4 T+2979G	Intronic regulatory variant in IL-4, the master Th2 cytokine; the T allele im...	Allergy & Atopic Disease	Autoimmune	Moderate
rs2228145	IL6R Asp358Ala	Missense variant in the IL-6 receptor that increases receptor shedding and en...	Allergy & Atopic Disease	Autoimmune	Strong
rs2243250	IL4 IL4 -589C>T	Promoter polymorphism 589 bases upstream of the IL-4 transcription start site...	Allergy & Atopic Disease	Autoimmune	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	Autoimmune	Moderate
rs3194051	IL7R I356V	Exon 8 missense variant in the IL-7 receptor alpha chain (Ile356Val) associat...	Neurology & Cognition	Autoimmune	Moderate
rs2244012	RAD50 RAD50 Intron 2 Variant	Intronic variant in RAD50 on chromosome 5q31.1 that was the top GWAS hit for ...	Allergy & Atopic Disease	Autoimmune	Moderate
rs2303065	SPINK5 SPINK5 His396His (c.1188T>C)	Synonymous variant in SPINK5 exon 13 that tags the same risk haplotype as the...	Allergy & Atopic Disease	Autoimmune	Moderate
rs2303067	SPINK5 SPINK5 Lys420Glu	Missense variant in SPINK5 encoding LEKTI domain 6 (p.Lys420Glu) that increas...	Allergy & Atopic Disease	Autoimmune	Moderate
rs2305480	GSDMB GSDMB Pro311Ser protective haplotype	Missense variant in gasdermin B that increases GSDMB expression and pyroptoti...	Allergy & Atopic Disease	Autoimmune	Strong
rs2872507	IKZF3	17q21 regulatory variant in the IKZF3-ORMDL3-GSDMB locus with opposite effect...	Allergy & Atopic Disease	Autoimmune	Strong
rs2967677	CERS4 Ceramide synthase 4 locus variant	A 3'UTR variant in the CERS4/NFILZ locus on chromosome 19 associated with ato...	Allergy & Atopic Disease	Autoimmune	Strong
rs4149584	TNFRSF1A R92Q	Missense variant in TNF receptor 1 that causes low-penetrance TRAPS (recurren...	Neurology & Cognition	Autoimmune	Strong
rs3024971	STAT6	Intronic variant in STAT6 near the 3' end of the gene that modulates STAT6 mR...	Allergy & Atopic Disease	Autoimmune	Moderate
rs76428106	FLT3 FLT3 Intronic Splice Variant	Low-frequency intronic variant in FLT3 that creates a cryptic splice site, tr...	Hormones & Sleep	Autoimmune	Strong
rs324011	STAT6	Intronic variant in STAT6 (intron 2) that creates an NF-κB binding site, incr...	Allergy & Atopic Disease	Autoimmune	Strong
rs324013	STAT6	Promoter variant in STAT6 that alters transcription factor binding; the T all...	Allergy & Atopic Disease	Autoimmune	Moderate
rs653178	SH2B3 ATXN2/SH2B3 12q24 pleiotropic locus	Pleiotropic 12q24 locus variant in SH2B3 (LNK) modulating JAK-STAT cytokine s...	Blood Sugar & Diabetes	Autoimmune	Strong
rs78534766	ADCY7 ADCY7 D439E	Low-frequency missense variant in adenylyl cyclase 7 that reduces cAMP synthe...	Hormones & Sleep	Autoimmune	Strong
rs3771166	IL1RL1/IL18R1	GABRIEL Consortium lead GWAS SNP at the IL1RL1/IL18R1 locus on chromosome 2q1...	Allergy & Atopic Disease	Autoimmune	Strong
rs3771175	IL1RL1 IL1RL1 receptor variant	A 3'-UTR variant in IL1RL1 (the ST2 receptor gene); the A allele increases ST...	Allergy & Atopic Disease	Autoimmune	Moderate
rs689	INS INS VNTR (Type 1 Diabetes Susceptibility)	Tag SNP for the insulin gene VNTR promoter — shorter Class I repeats raise T1...	Blood Sugar & Diabetes	Autoimmune	Strong
rs3806933	TSLP	Functional promoter variant in TSLP that creates an AP-1 transcription factor...	Allergy & Atopic Disease	Autoimmune	Moderate
rs3939286	IL33 IL33 intronic asthma variant	Regulatory variant ~5 kb upstream of IL33; the T allele is associated with in...	Allergy & Atopic Disease	Autoimmune	Strong
rs4129267	IL6R IL6R intronic multi-trait variant	Intronic IL6R variant in perfect linkage disequilibrium with the functional A...	Allergy & Atopic Disease	Autoimmune	Strong
rs4794067	TBX21 TBX21 T-bet Promoter -1993T>C	Promoter variant ~1993 bp upstream of TBX21 (encoding the T-bet master transc...	Allergy & Atopic Disease	Autoimmune	Moderate
rs4950928	CHI3L1 YKL-40 Promoter Variant (-131C>G)	Promoter variant controlling YKL-40 (chitinase 3-like 1) expression; the comm...	Allergy & Atopic Disease	Autoimmune	Strong
rs6062486	RTEL1 Telomere helicase immune variant	Intronic variant in RTEL1 (regulator of telomere elongation helicase 1) assoc...	Allergy & Atopic Disease	Autoimmune	Strong
rs7130588	LRRC32	Regulatory variant near LRRC32 (GARP) on chromosome 11q13.5; the G allele inc...	Allergy & Atopic Disease	Autoimmune	Strong
rs71625130	SNX27 1q21.3 T-cell signaling / Th17 locus variant	Intronic SNX27 variant at the 1q21.3 GWAS locus that increases atopic dermati...	Allergy & Atopic Disease	Autoimmune	Strong
rs7192	HLA-DRA HLA-DRA Leu242Val	Missense variant (Leu242Val) in the HLA-DRA alpha chain; the T allele tags HL...	Allergy & Atopic Disease	Autoimmune	Strong
rs72823628	IL1RL1	Intronic variant in the IL1RL1/IL18R1 receptor gene cluster on chromosome 2q1...	Allergy & Atopic Disease	Autoimmune	Moderate
rs7927894	EMSY	Regulatory variant near the EMSY/C11orf30 locus; T allele increases EMSY expr...	Allergy & Atopic Disease	Autoimmune	Strong
rs6897932	IL7R T244I	Splicing variant in the IL-7 receptor alpha chain that shifts the balance tow...	Neurology & Cognition	Autoimmune	Strong
rs907091	IKZF3 IKZF3 miRNA Binding Region Variant	A 3'UTR variant in IKZF3 that alters miR-326 binding affinity, reducing Aiolo...	Allergy & Atopic Disease	Autoimmune	Moderate
rs911263	RAD51B RAD51B RA Proxy Variant	Intronic proxy variant in RAD51B associated with seropositive rheumatoid arth...	Allergy & Atopic Disease	Autoimmune	Moderate
rs9275596	HLA-DQ HLA-DQ Region Peanut Allergy Locus	Intergenic tag SNP between HLA-DQB1 and HLA-DQA2 tagging the HLA-DQA1*01:02 r...	Allergy & Atopic Disease	Autoimmune	Strong
rs963917	RAD51B RAD51B Central European RA Variant	A 3' UTR variant in RAD51B that alters miRNA-616 binding efficiency and is as...	Allergy & Atopic Disease	Autoimmune	Emerging