Tag

Inflammation

504 genetic variants with this tag.

RSID	Gene	Description	Category
rs1001179	CAT -262C>T	Catalase promoter variant affecting hydrogen peroxide clearance and antioxida...	Methylation & Detox	Inflammation	Strong
rs10033900	CFI	Intronic variant in complement factor I associated with age-related macular d...	Longevity & Aging	Inflammation	Strong
rs10045431	IL12B	Upstream tagging SNP at the IL12B locus that marks the Th1/Th17 risk haplotyp...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs1004819	IL23R	Intronic IL-23 receptor variant that increases susceptibility to ankylosing s...	IBD & Mucosal Immunity	Inflammation	Strong
rs10063949	SLC23A1 SLC23A1 variant	Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...	Vitamins & Nutrient Absorption	Inflammation	Moderate
rs10181656	STAT4	Intronic STAT4 tagging SNP on the primary SLE risk haplotype; the sentinel va...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs10206753	IL1RL1 IL1RL1 TIR Domain Risk Haplotype	Missense variant in IL1RL1 encoding the Leu551Ser amino acid change in the in...	Allergy & Atopic Disease	Inflammation	Strong
rs1024611	CCL2 A-2518G	Promoter variant that increases CCL2 (MCP-1) transcription, amplifying monocy...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs1036477	FBN1	Deep intronic FBN1 variant associated with larger ascending aortic dimensions...	Cardiomyopathy & Structural Heart	Inflammation	Strong
rs1047031	DEFB1	3'UTR variant in the beta-defensin 1 gene that disrupts a microRNA binding si...	Dental & Oral Health	Inflammation	Moderate
rs10499194	TNFAIP3	Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protecti...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs10509679	CYP2C9	Intronic CYP2C9 haplotype tag associated with increased ischemic stroke risk ...	Coronary Artery Disease & Atherosclerosis	Inflammation	Emerging
rs10050860	ERAP1 D575N	Missense variant (Asp575Asn) in the ERAP1 catalytic domain that modestly redu...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs10167914	IL1A IL1A Endometriosis Susceptibility Variant	A regulatory tag SNP in the IL1A/IL1B locus on chromosome 2q13; the G allele ...	Endometriosis & Uterine Health	Inflammation	Strong
rs10208293	IL1RL1	Intronic IL1RL1 variant tagging an independent regulatory signal at the ST2 l...	Allergy & Atopic Disease	Inflammation	Moderate
rs1041981	LTA Thr26Asn (TNFB*2)	Missense variant in lymphotoxin-alpha, a TNF superfamily cytokine essential f...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs1049255	CYBA CYBA 3'UTR A640G	3'UTR variant in the NADPH oxidase p22-phox subunit affecting superoxide gene...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs1064793792	SERPING1	Frameshift deletion in SERPING1 eliminating C1-inhibitor function — causes he...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	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	Inflammation	Strong
rs11568821	LOC105373977 PDCD1/LOC105373977 PD1.3	Intronic regulatory variant near the PDCD1 (PD-1) immune checkpoint locus tha...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Moderate
rs12640848	ENAM	Intronic variant in the ENAM enamelin gene associated with altered dental car...	Dental & Oral Health	Inflammation	Moderate
rs10399931	CHI3L1 CHI3L1 eQTL Partner Variant	Upstream regulatory variant in the CHI3L1 YKL-40 quantitative trait locus; th...	Allergy & Atopic Disease	Inflammation	Moderate
rs104895444	NOD2	Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; c...	IBD & Mucosal Immunity	Inflammation	Moderate
rs1048990	PSMA6 PSMA6 -8C>G	5'UTR variant that enhances PSMA6 transcription, amplifying proteasome-driven...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs10505806	MGST1	Intergenic variant near MGST1 that modifies whether aspirin/NSAIDs reduce col...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs1054564	GDF15 GDF15 3'UTR rs1054564	3'UTR variant that controls GDF15 expression via microRNA regulation — C alle...	Endometriosis & Uterine Health	Inflammation	Moderate
rs1061170	CFH Y402H	Strongly increases risk of age-related macular degeneration through impaired ...	Skin & Eyes	Inflammation	Established
rs1064793917	SERPING1	Frameshift deletion in SERPING1 (p.Lys390fs) abolishing C1-inhibitor producti...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Established
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	Inflammation	Moderate
rs11265611	IL6R	Intronic IL6R variant in LD with the IL-6 receptor signaling locus; G allele ...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs11652075	CARD14 CARD14 Arg820Trp (R820W)	Missense variant in the keratinocyte NF-κB scaffold protein CARD14 that modes...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs12101255	TSHR	Intronic regulatory variant in TSHR intron 1; the T allele disrupts thymic ex...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs12232375	ZFPM1 ZFPM1 Hematology/Cardiac Locus Variant	Intronic ZFPM1 variant tagging reduced GATA cofactor regulatory activity; the...	Arrhythmia & Heart Rhythm	Inflammation	Strong
rs1537415	GLT6D1	Intronic variant in GLT6D1 reducing GATA-3 transcription factor binding in T ...	Dental & Oral Health	Inflammation	Strong
rs1050152	SLC22A4 OCTN1 L503F	Missense variant in SLC22A4 encoding the organic cation/ergothioneine transpo...	Allergy & Atopic Disease	Inflammation	Strong
rs10507391	ALOX5AP SG13S114 intron variant	Intronic ALOX5AP variant in the HapA haplotype; the A allele is associated wi...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs10738445	BNC2 BNC2 AIS susceptibility variant	Intronic enhancer variant in basonuclin-2 that increases YY1 binding and BNC2...	Innate Immunity & Infection Defense	Inflammation	Strong
rs10800309	FCGR2A FCGR2A intronic variant	Intronic upstream variant in FCGR2A that modulates surface expression of the ...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Moderate
rs10859871	VEZT	Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increa...	Endometriosis & Uterine Health	Inflammation	Strong
rs10954213	IRF5 3'UTR polyadenylation	3'UTR variant creating a functional polyadenylation site; A allele produces a...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs1143627	IL1B -31T>C	Promoter variant that elevates IL-1β transcription, increasing risk of H. pyl...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs11556924	ZC3HC1 R363H	Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs11726117	ALPK1 ALPK1 variant	Missense variant in the innate immune kinase ALPK1 (Met861Thr); the C allele ...	Uric Acid & Kidney Function	Inflammation	Moderate
rs12188300	IL12B	Near-gene variant at the IL12B locus associated with psoriasis risk through a...	Psoriasis & Spondyloarthropathy	Inflammation	Moderate
rs17175830	ZFPM1 ZFPM1 intronic variant	Intronic variant in ZFPM1 (FOG1), the master transcriptional co-regulator of ...	Arrhythmia & Heart Rhythm	Inflammation	Strong
rs10489629	IL23R	Intronic IL23R variant in LD block 2 where the T allele is associated with in...	IBD & Mucosal Immunity	Inflammation	Strong
rs10751659	PRG3 PRG3 Eosinophil Major Basic Protein Homologue Variant	Intronic variant in the PRG3 gene encoding eosinophil major basic protein hom...	Allergy & Atopic Disease	Inflammation	Emerging
rs10759931	TLR4 -2604G>A	Promoter variant in Toll-like receptor 4 that drives higher TLR4 expression a...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs10882398	PLCE1	Intronic PLCE1 variant where the A allele raises systolic blood pressure and ...	Blood Pressure & Hypertension	Inflammation	Strong
rs11264799	FCRL3	Upstream regulatory variant in FCRL3 with a strong eQTL effect on FCRL3 expre...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	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	Inflammation	Moderate
rs1143634	IL1B +3954C>T	Synonymous exon 5 variant in IL-1β that increases IL-1β protein secretion des...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs11881940	HNRNPUL1	Intronic variant in HNRNPUL1, an RNA-processing gene highly expressed in macr...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs198968	KLK4	Intronic variant in kallikrein-related peptidase 4 gene affecting KLK4 expres...	Dental & Oral Health	Inflammation	Moderate
rs104894664	TTR Ala45Thr (A25T)	Rare pathogenic TTR missense variant causing hereditary transthyretin amyloid...	Cardiomyopathy & Structural Heart	Inflammation	Strong
rs10980705	LPAR1	Upstream regulatory variant that increases LPAR1 transcriptional activity in ...	Fitness & Body	Inflammation	Emerging
rs11071559	RORA	Intronic variant in the circadian clock regulator RORA; the T allele is prote...	Allergy & Atopic Disease	Inflammation	Moderate
rs12095080	DIO1 DIO1 cardiac mortality variant	3' UTR variant in the type 1 deiodinase gene associated with markedly increas...	Coronary Artery Disease & Atherosclerosis	Inflammation	Emerging
rs1234314	TNFSF4	Intronic variant in TNFSF4 that reduces OX40 ligand promoter activity and is ...	Interferon Signaling & Systemic Autoimmune	Inflammation	Moderate
rs1250248	FN1	Intronic variant in the fibronectin 1 gene associated with increased suscepti...	Endometriosis & Uterine Health	Inflammation	Strong
rs1270942	CFB	Intronic variant in Complement Factor B associated with strongly elevated sys...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	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	Inflammation	Moderate
rs12883343	NFKBIA NFKBIA/IkB-alpha variant	Regulatory variant near NFKBIA that specifically elevates risk for psoriatic ...	Psoriasis & Spondyloarthropathy	Inflammation	Moderate
rs13207033	TNFAIP3	Intergenic protective variant near TNFAIP3 that tags a haplotype associated w...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs1378577	ABCG1 ABCG1 ischemic stroke variant	Regulatory variant ~2kb upstream of ABCG1 that modulates transporter expressi...	Atherogenic Lipoproteins	Inflammation	Moderate
rs10889160	CYP2J2	Intronic CYP2J2 tag SNP; the C allele marks a haplotype associated with reduc...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs10889677	IL23R	3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — th...	IBD & Mucosal Immunity	Inflammation	Strong
rs11079788	TBX21 TBX21 Regulatory Variant	Intronic regulatory variant in TBX21 that influences T-bet expression and Th1...	Allergy & Atopic Disease	Inflammation	Emerging
rs11959928	DAB2	Intronic regulatory variant that increases DAB2 expression in kidney tubules,...	Cholesterol & Lipoproteins	Inflammation	Strong
rs1256335	ALPL	Intronic variant near ALPL associated with increased alkaline phosphatase act...	Vitamins & Nutrient Absorption	Inflammation	Strong
rs12720356	TYK2 Ile684Ser	A missense variant in the TYK2 pseudokinase (JH2) domain that partially impai...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs13190932	TRAF3IP2 R74W	Missense variant in the IL-17 adaptor Act1 (Arg74Trp) that is the primary GWA...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs13245639	IRF5 Regulatory	Cis-regulatory IRF5 variant in near-perfect LD (r²=0.97) with the rs729302 pr...	Interferon Signaling & Systemic Autoimmune	Inflammation	Moderate
rs17561	IL1A Ala114Ser	Missense variant in IL-1α (Ala114Ser) that acts as a common hypomorphic mutat...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs2235373	IRF6	Intronic IRF6 variant associated with non-syndromic cleft lip with or without...	Dental & Oral Health	Inflammation	Moderate
rs1058932	CYP2C8	CYP2C8 3-prime UTR variant associated with cardiovascular risk via altered ep...	Pharmacogenomics	Inflammation	Moderate
rs10958409	SOX17	Intergenic variant near SOX17 at 8q11 that reduces expression of this endothe...	Vascular Inflammation & Remodeling	Inflammation	Strong
rs11052552	CLECL1	Intronic variant in CLECL1, a dendritic-cell costimulatory C-type lectin, ass...	Appetite & Obesity	Inflammation	Moderate
rs11204971	FLG FLG locus regulatory variant	Regulatory tag SNP in the filaggrin (FLG) locus associated with reduced FLG e...	Allergy & Atopic Disease	Inflammation	Moderate
rs11209026	IL23R R381Q	Strongly protective variant against inflammatory bowel disease and other auto...	IBD & Mucosal Immunity	Inflammation	Established
rs12700667	7p15.2 (near HOXA10/HOXA11)	Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may i...	Endometriosis & Uterine Health	Inflammation	Established
rs12722489	IL2RA	Intronic variant in IL2RA intron 1 that creates an estrogen-responsive enhanc...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs13193677	TRAF3IP2	Intronic variant near the TRAF3IP2 locus (annotated in IPCEF1 at chr6q25.2 by...	Psoriasis & Spondyloarthropathy	Inflammation	Moderate
rs17881320	STAT3 JAK-STAT3 Signaling Variant	Intronic STAT3 variant associated with increased atopic dermatitis risk (OR=1...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs1800871	IL10 -819 C>T	Promoter variant in the IL-10 haplotype system — regulates IL-10 anti-inflamm...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs10519177	FBN1	Intronic FBN1 variant that requires two copies of the G allele to impair fibr...	Cardiomyopathy & Structural Heart	Inflammation	Emerging
rs11229030	PRG2	Intergenic tag SNP in the PRG2/PRG3 eosinophil major basic protein gene clust...	Allergy & Atopic Disease	Inflammation	Moderate
rs11572325	CYP2J2	Intronic CYP2J2 variant associated with increased myocardial infarction risk ...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs11842874	MCF2L	Intronic variant in MCF2L that acts as a synovial eQTL — A allele carriers ha...	Fitness & Body	Inflammation	Strong
rs121918393	APOE Christchurch (R136S)	Ultra-rare APOE3 missense variant that dramatically reduces HSPG binding and ...	Longevity & Aging	Inflammation	Strong
rs13196377	TRAF3IP2 Intronic haplotype member	Intronic tagging variant in the TRAF3IP2/TRAF3IP2-AS1 locus that distinguishe...	Psoriasis & Spondyloarthropathy	Inflammation	Moderate
rs13324341	MRAS	Intronic MRAS variant that creates a MEF2 transcription factor binding site i...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs150597413	FLG S3247X	Nonsense variant eliminating filaggrin protein — a minor European FLG null al...	Skin & Eyes	Inflammation	Strong
rs1799724	TNF -857C>T	TNF promoter variant that disrupts an OCT-1 binding site, altering TNF-alpha ...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs1800787	FGB -148C>T	Upstream promoter variant in fibrinogen beta chain that elevates circulating ...	Coagulation & Clotting Factors	Inflammation	Strong
rs1800896	IL10 -1082 A>G	Promoter variant affecting IL-10 production — the master anti-inflammatory cy...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs1801274	FCGR2A H131R	Missense variant in Fc gamma receptor IIa that substitutes histidine (H131, h...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Strong
rs2274327	CA6 Thr55Met	Reduces salivary carbonic anhydrase VI (gustin) secretion, impairing oral aci...	Dental & Oral Health	Inflammation	Moderate
rs11236797	LRRC32	Regulatory variant in a distal enhancer at 11q13.5 that controls GARP express...	Allergy & Atopic Disease	Inflammation	Strong
rs11465770	IL23R	Intronic IL23R variant whose minor T allele tags a protective haplotype that ...	IBD & Mucosal Immunity	Inflammation	Moderate
rs1154155	TRA	T-cell receptor alpha locus variant associated with narcolepsy susceptibility...	Hormones & Sleep	Inflammation	Strong
rs11967262	VEGFA	Regulatory variant ~7 kb upstream of VEGFA linked to elevated varicose vein r...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs12206094	FOXO3	Functional FOXO3 intronic variant with allele-specific CTCF binding and IGF-1...	Longevity & Aging	Inflammation	Strong
rs13210247	TRAF3IP2	Intronic variant in the TRAF3IP2 locus that lies within the antisense lncRNA ...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs1535	FADS2	Intronic FADS2 variant with stronger independent associations than rs174575 f...	Triglycerides & Fatty Acids	Inflammation	Strong
rs1800629	TNF -308 G>A	Promoter variant increasing TNF-alpha production approximately 2-fold, associ...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs1800788	FGB -854G>A	Upstream promoter variant in fibrinogen beta chain that increases IL-6-driven...	Coagulation & Clotting Factors	Inflammation	Moderate
rs1861494	IFNG IFNG Interferon Gamma	Intronic IFNG variant that modulates interferon-gamma expression, with the T ...	Interferon Signaling & Systemic Autoimmune	Inflammation	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	Inflammation	Strong
rs2738058	DEFA1A3	Intergenic variant downstream of the DEFA1A3 alpha-defensin locus; T risk all...	Dental & Oral Health	Inflammation	Strong
rs11465804	IL23R	Intronic IL23R variant in strong linkage disequilibrium with the functional R...	IBD & Mucosal Immunity	Inflammation	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	Inflammation	Moderate
rs1205	CRP +1846C>T	3' UTR variant that modulates baseline C-reactive protein levels and inflamma...	Vascular Inflammation & Remodeling	Inflammation	Strong
rs12212067	FOXO3	Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription fac...	Longevity & Aging	Inflammation	Strong
rs1539243	IKBKE IKBKE Ile67 synonymous variant	Synonymous coding variant in exon 4 of IKBKE (IKK-epsilon); the C allele tags...	Psoriasis & Spondyloarthropathy	Inflammation	Moderate
rs16840252	CTLA4	Upstream promoter variant (~1147 bp 5' of CTLA4) tagging an autoimmune-associ...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Moderate
rs1800630	TNF -863C>A	TNF promoter variant that disrupts NF-κB p50-p50 binding, reducing TNF-alpha ...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs1800789	FGB -249G>A	Upstream promoter variant in fibrinogen beta chain that is associated with lo...	Coagulation & Clotting Factors	Inflammation	Moderate
rs1990760	IFIH1 Ala946Thr	Gain-of-function missense variant in the MDA5 viral RNA sensor, enhancing typ...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs201363394	SERPING1 Arg400Cys	Pathogenic missense variant in SERPING1 encoding C1-inhibitor; the Arg400Cys ...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Established
rs2911463	PIEZO1	Intronic variant in PIEZO1, the endothelial mechanosensory ion channel that s...	Arrhythmia & Heart Rhythm	Inflammation	Strong
rs115161931	CTSS	Independent CTSS-locus GWAS signal for atopic dermatitis on chromosome 1q21.3...	Allergy & Atopic Disease	Inflammation	Moderate
rs12044149	IL23R	Regulatory variant upstream of the IL-23 receptor gene more strongly associat...	IBD & Mucosal Immunity	Inflammation	Strong
rs1360590	CDKN2BAS	Intronic variant in ANRIL at the 9p21.3 locus — the shared susceptibility reg...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs17085007	USP12	Regulatory variant at the chromosome 13q12 locus that tags a region upstream ...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs17482078	ERAP1 R725Q	Missense variant (Arg725Gln) in the ERAP1 peptide-binding domain that reduces...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs1800790	FGB -455G>A	Promoter variant in the fibrinogen beta-chain gene that upregulates FGB trans...	Coagulation & Clotting Factors	Inflammation	Strong
rs187084	TLR9 Promoter -1486T/C	Promoter variant that alters transcription factor binding and TLR9 expression...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs2004640	IRF5 G198T	Intronic variant creating alternative splice site that increases type I inter...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs201408742	GPR174	X-linked intergenic variant near GPR174 (G protein-coupled receptor 174), a l...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Emerging
rs11136000	CLU	Intronic variant in clusterin gene affecting Alzheimer's disease risk through...	Neurology & Cognition	Inflammation	Established
rs1154404	ADH5 ADH5 Asthma Risk Haplotype Variant	Intronic variant in ADH5 (GSNOR) in near-complete LD (r²=0.99) with adjacent ...	Allergy & Atopic Disease	Inflammation	Moderate
rs11590235	SKI	TGF-beta signaling regulator variant identified as the top shared locus betwe...	Cardiomyopathy & Structural Heart	Inflammation	Moderate
rs13107325	SLC39A8 A391T	Zinc and manganese transporter variant that reduces metal ion absorption, aff...	IBD & Mucosal Immunity	Inflammation	Strong
rs142885915	NPSR1 NPSR1 Endometriosis Risk Variant	An intronic insertion/deletion variant in the neuropeptide S receptor 1 gene ...	Endometriosis & Uterine Health	Inflammation	Moderate
rs1501299	ADIPOQ +276G>T	Intronic variant in the adiponectin gene that influences circulating adiponec...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs17166496	FSTL4 FSTL4 rs17166496	Intronic variant in FSTL4 (Follistatin-Like 4) on chromosome 5q31; heterozygo...	Appetite & Obesity	Inflammation	Emerging
rs17728338	TNIP1 TNIP1/ABIN1 variant	Intergenic regulatory variant near TNIP1 whose A allele reduces ABIN1-mediate...	Psoriasis & Spondyloarthropathy	Inflammation	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	Inflammation	Strong
rs1801020	F12 46C>T	5' UTR variant that reduces Factor XII translation efficiency, lowering plasm...	Coagulation & Clotting Factors	Inflammation	Moderate
rs1898830	TLR2	Intronic TLR2 variant that modulates innate immune signaling intensity; G all...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs2043211	CARD8 C10X	Truncating variant in the NLRP3 inflammasome brake that abolishes CARD8's cas...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs2269475	AIF1 AIF1 Arg69Trp	Missense variant in allograft inflammatory factor 1 (Iba1), a macrophage-expr...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Moderate
rs2288904	SLC44A2 R154Q	Missense variant that impairs platelet-neutrophil binding and blocks flow-dep...	Von Willebrand & Anticoagulant Proteins	Inflammation	Strong
rs11650354	TBX21 TBX21 Region Variant	Intronic variant in TBX21 that forms a risk haplotype with rs16947078; the T ...	Allergy & Atopic Disease	Inflammation	Strong
rs128627256	DMD Arg2905Ter (R2905X)	Nonsense variant in dystrophin that eliminates full-length protein, causing X...	Cardiomyopathy & Structural Heart	Inflammation	Established
rs13217795	FOXO3	Original 2008 Willcox longevity discovery variant; C allele tags the protecti...	Longevity & Aging	Inflammation	Strong
rs13900	CCL2 CCL2 3'UTR variant	3'UTR variant that increases CCL2 mRNA stability via enhanced HuR binding, el...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs17228212	SMAD3	Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascula...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs2066808	IL23A	Intronic variant near IL23A encoding the IL-23 p19 subunit; G allele increase...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs2104286	IL2RA	Intronic variant affecting IL-2 receptor alpha chain expression and soluble I...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs2105325	LOC100506023 LOC100506023 rs2105325	Intronic variant in LOC100506023 (PRDX6-AS1) and TNFSF4 at the 1q25.1 locus, ...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs2234067	ETV7 ETV7 rs2234067	Upstream regulatory variant near ETV7, an interferon-inducible transcriptiona...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs4225	APOC3 APOC3 3'UTR c.*71G>T	3'UTR variant that creates a microRNA-4271 binding site; the T allele suppres...	Atherogenic Lipoproteins	Inflammation	Moderate
rs11650680	ORMDL3 ORMDL3 17q21 asthma susceptibility	Intronic regulatory variant in the ORMDL3 17q21 haploblock; the C allele driv...	Allergy & Atopic Disease	Inflammation	Strong
rs1343151	IL23R	Intronic IL23R variant whose minor A allele tags the protective haplotype for...	IBD & Mucosal Immunity	Inflammation	Moderate
rs143383	GDF5 C/T	Regulatory variant in GDF5 affecting cartilage development and osteoarthritis...	Fitness & Body	Inflammation	Established
rs1537377	CDKN2BAS CDKN2B-AS1 rs1537377	Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus; the ...	Endometriosis & Uterine Health	Inflammation	Strong
rs16944	IL1B -511C>T	Promoter variant affecting IL-1 beta production, influencing inflammatory res...	Vascular Inflammation & Remodeling	Inflammation	Strong
rs1746048	CXCL12	Regulatory variant 80 kb downstream of CXCL12 on chromosome 10q11; the T alle...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs2066865	FGG 10034C>T	3' region variant in the fibrinogen gamma chain gene that shifts the gamma/ga...	Coagulation & Clotting Factors	Inflammation	Strong
rs2108225	SLC26A3 SLC26A3 Ulcerative Colitis Susceptibility Variant	Regulatory variant at the SLC26A3 locus associated with ulcerative colitis su...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Moderate
rs2201841	IL23R	Intronic variant in the IL-23 receptor gene associated with increased risk of...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs2230199	C3 R102G	Missense variant in complement C3 increasing risk of age-related macular dege...	Skin & Eyes	Inflammation	Established
rs2230600	PTPN13 I1522M	Missense variant in PTPN13 (FAP-1) converting Ile to Met at position 1522; th...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs2280714	IRF5 3'UTR	Downstream regulatory variant in the IRF5 3' region that elevates IRF5 mRNA e...	Interferon Signaling & Systemic Autoimmune	Inflammation	Moderate
rs28929454	SERPINA1	SERPINA1 intronic variant strongly associated with elevated mortality in ANCA...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Emerging
rs4253623	PPARA	Intronic PPARA variant whose minor G allele has been associated with modest m...	Atherogenic Lipoproteins	Inflammation	Emerging
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	Inflammation	Moderate
rs1495965	IL23R	Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated ...	IBD & Mucosal Immunity	Inflammation	Strong
rs17222814	ALOX5AP SG13S114 (HapB tag)	Intronic ALOX5AP variant tagging the HapB risk haplotype; the A allele marks ...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs17465637	MIA3	Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smo...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs1903068	KDR KDR/VEGFR2 Endometriosis Angiogenesis Variant	Intergenic variant ~17 kb upstream of KDR (encoding VEGFR2, the primary VEGF ...	Endometriosis & Uterine Health	Inflammation	Strong
rs2230926	TNFAIP3 F127C	Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negat...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs2256774	IL2RA	Intronic IL2RA variant that modulates soluble IL-2RA shedding and Treg signal...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Moderate
rs230523	NFKB1	Intronic variant in the master immune transcription factor NF-κB1, associated...	Innate Immunity & Infection Defense	Inflammation	Strong
rs2364480	LTBR	Synonymous coding variant in the lymphotoxin-beta receptor gene associated wi...	Psoriasis & Spondyloarthropathy	Inflammation	Moderate
rs2731672	F12	Regulatory tag variant in the Factor XII locus associated with plasma FXII ac...	Coagulation & Clotting Factors	Inflammation	Strong
rs3024491	IL10 Intronic variant	Intronic IL10 variant that reduces anti-inflammatory cytokine production, ind...	Interferon Signaling & Systemic Autoimmune	Inflammation	Moderate
rs11808092	EVI5	Missense variant in EVI5's coiled-coil domain altering immune cell traffickin...	Neurology & Cognition	Inflammation	Strong
rs12123821	FLG Filaggrin skin barrier variant	Common regulatory variant in the FLG locus associated with impaired skin barr...	Allergy & Atopic Disease	Inflammation	Strong
rs1524107	IL6	Intronic IL6 variant tagging a low-producing haplotype — the T allele is prot...	Longevity & Aging	Inflammation	Moderate
rs17222842	ALOX5AP ALOX5AP variant (SG13S32)	Intronic ALOX5AP haplotype tag; the common G allele marks the HapB cardiovasc...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs17514846	FURIN	Intronic regulatory variant modulating FURIN expression via allele-specific D...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs1800972	DEFB1 DEFB1 -44C>G	Promoter variant in the beta-defensin 1 gene that reduces constitutive hBD-1 ...	IBD & Mucosal Immunity	Inflammation	Moderate
rs2233434	NFKBIE	Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	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	Inflammation	Moderate
rs2546890	LOC285626 LOC285626 rs2546890	Regulatory variant upstream of IL12B associated with increased risk of multip...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs2569190	CD14 -159C>T	Promoter variant affecting CD14 expression and LPS receptor signaling — deter...	Innate Immunity & Infection Defense	Inflammation	Strong
rs3024505	IL10 3' downstream variant	Downstream IL10 enhancer variant that disrupts a STAT3 binding site, reducing...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs3126085	FLG	Intronic regulatory variant in the filaggrin gene locus that reduces FLG expr...	Skin & Eyes	Inflammation	Strong
rs4220	FGB Arg448Lys (R448K)	Missense variant in the fibrinogen beta chain that elevates circulating fibri...	Coagulation & Clotting Factors	Inflammation	Moderate
rs5128	APOC3 3238C>G (SstI)	Regulates triglyceride metabolism through effects on APOC3 expression in the ...	Atherogenic Lipoproteins	Inflammation	Strong
rs12133641	IL6R IL-6 receptor intronic variant	Deep intronic IL6R variant associated with atopic dermatitis risk and systemi...	Allergy & Atopic Disease	Inflammation	Strong
rs12979860	IFNL4	Intronic variant in IFNL4 — the strongest host genetic predictor of hepatitis...	Pharmacogenomics	Inflammation	Established
rs149007883	NFKBIZ NFKBIZ p.Gly102Ala	Rare protective missense variant in the NF-kB inhibitor zeta gene that reduce...	Hormones & Sleep	Inflammation	Moderate
rs17576	MMP9 MMP9 Q279R	Missense variant in the MMP9 fibronectin type II domain affecting matrix meta...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs17697419	VEGFC	Intronic variant in the primary lymphangiogenesis growth factor gene; the min...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs2234663	IL1RN	Intron 2 VNTR polymorphism in IL1RN that alters IL-1Ra isoform balance and is...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs2304256	TYK2 TYK2 V362F	A common missense and splicing variant in TYK2 that promotes exon 8 inclusion...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs26653	ERAP1	Missense variant (Arg127Pro) in ERAP1 that subtly alters ER peptide trimming ...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs28362491	NFKB1 -94ins/delATTG	Promoter insertion/deletion polymorphism reducing NF-κB p50 transcription and...	Innate Immunity & Infection Defense	Inflammation	Strong
rs3738919	ITGAV ITGAV integrin alpha-V variant	Intronic ITGAV variant associated with rheumatoid arthritis susceptibility in...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Emerging
rs12141494	CHI3L1 CHI3L1 Intron 6 Variant	Intronic variant in CHI3L1 (intron 6) independently associated with asthma se...	Allergy & Atopic Disease	Inflammation	Moderate
rs12980275	IFNL3	Downstream variant near IFNL3 — third IL28B locus predictor of hepatitis C sp...	Pharmacogenomics	Inflammation	Established
rs17147230	IL6	Near-gene upstream variant in IL6 associated with hepatocellular carcinoma ri...	Longevity & Aging	Inflammation	Moderate
rs174553	FADS1	Intronic variant in the FADS1 gene cluster that reduces delta-5 desaturase ac...	Triglycerides & Fatty Acids	Inflammation	Strong
rs17697515	VEGFC	Intronic VEGFC variant independently associated with reduced diabetic retinop...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs1805762	M6PR	Intronic M6PR variant associated with modest hypertension risk in East Asian ...	Coronary Artery Disease & Atherosclerosis	Inflammation	Emerging
rs2275913	IL17A -197G>A	Promoter variant in the NFAT binding site that increases IL-17A transcription...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs231775	CTLA4 Thr17Ala	Missense variant in the CTLA-4 leader peptide that reduces surface expression...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs27044	ERAP1 Gln730Glu	Missense variant in the ERAP1 C-terminal regulatory domain modulating peptide...	Psoriasis & Spondyloarthropathy	Inflammation	Moderate
rs3131379	MSH5	Intronic variant in the HLA class III region near MSH5 associated with lupus ...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs4253238	KLKB1 KLKB1 intronic variant	Intronic KLKB1 variant whose T allele elevates plasma kallikrein enzymatic ac...	Coagulation & Clotting Factors	Inflammation	Moderate
rs5177	LRP8 LRP8 3'UTR variant	3'UTR variant in LRP8 (ApoER2) that affects mRNA stability and forms part of ...	Atherogenic Lipoproteins	Inflammation	Moderate
rs641738	MBOAT7	Regulatory variant that reduces MBOAT7 expression in the liver, impairing pho...	Liver Fat	Inflammation	Strong
rs12053868	IL1RAP IL1RAP amyloid risk variant	Intronic variant in IL1RAP that impairs microglial activation, accelerating b...	Neurology & Cognition	Inflammation	Moderate
rs12251307	IL2RA IL-2 receptor alpha chain variant	Intergenic variant 19 kb downstream of IL2RA associated with atopic dermatiti...	Allergy & Atopic Disease	Inflammation	Strong
rs1799987	CCR5 CCR5 Promoter -2459A>G	Regulatory variant in the CCR5 promoter that reduces CCR5 expression by ~45%;...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs231806	CTLA4	Upstream regulatory variant in the CTLA4 MH30 region associated with latent a...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Emerging
rs27524	ERAP1	Intronic ERAP1 variant that increases expression, raising psoriasis risk spec...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs352140	TLR9	Synonymous variant in TLR9 that increases receptor expression, amplifying inn...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs397507563	FLG 3702delG	Frameshift deletion in the third filaggrin repeat domain — the third most com...	Skin & Eyes	Inflammation	Established
rs419788	SKIV2L	Intronic SKIV2L variant in the MHC class III region; the T allele tags an ind...	Interferon Signaling & Systemic Autoimmune	Inflammation	Moderate
rs12368672	STAT6 STAT6 intronic variant	Deep intronic variant in STAT6 that modulates IL-4/IL-13 signal transduction;...	Allergy & Atopic Disease	Inflammation	Moderate
rs174568	FADS2 FADS2 C>T (delta-6 desaturase)	Intronic regulatory variant in FADS2 encoding delta-6 desaturase, the rate-li...	Triglycerides & Fatty Acids	Inflammation	Moderate
rs17493811	AGER	Tag SNP in the AGER 3′ downstream region associated with increased type 1 dia...	Hormones & Sleep	Inflammation	Moderate
rs1800471	TGFB1 R25P (Arg25Pro)	Signal-peptide missense variant altering TGF-β1 secretion levels, associated ...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs2231137	ABCG2 ABCG2 V12M (Val12Met)	Missense variant in the ABCG2 transporter that impairs membrane localization ...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs2469434	CD226	Deep-intronic variant in the CD226 (DNAM-1) co-stimulatory receptor gene asso...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Moderate
rs2501401	CNR2	Intronic eQTL in CNR2 (cannabinoid receptor 2) that modulates receptor expres...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Emerging
rs2856836	IL1A	3' UTR variant in IL1A (interleukin-1 alpha) associated with endometriosis su...	Endometriosis & Uterine Health	Inflammation	Moderate
rs30187	ERAP1 K528R	Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosin...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs4151667	CFB L9H	Missense variant in the signal peptide of complement factor B forming the H10...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Strong
rs4728142	IRF5 Promoter Indel Tag (CGGGG insertion)	Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromati...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs6834314	HSD17B13	Intergenic tag SNP in near-perfect linkage disequilibrium with the HSD17B13 s...	Liver Fat	Inflammation	Moderate
rs11683424	DNMT3A	Intronic variant in the de novo DNA methyltransferase DNMT3A, associated with...	Methylation & Detox	Inflammation	Emerging
rs12551256	IL33 IL33 protective asthma variant	Intronic IL33 variant where the G allele is negatively associated with asthma...	Allergy & Atopic Disease	Inflammation	Emerging
rs13412852	LPIN1	Intronic variant in LPIN1 (lipin-1) associated with liver fat accumulation an...	Fat Storage & Energy	Inflammation	Emerging
rs1800872	IL10 -592 C>A	Promoter variant affecting IL-10 production — a key anti-inflammatory cytokin...	Vascular Inflammation & Remodeling	Inflammation	Strong
rs1935949	FOXO3	Second independent FOXO3 longevity signal tagging a distinct intronic haploty...	Longevity & Aging	Inflammation	Moderate
rs2241766	ADIPOQ T45G	Synonymous exon 2 variant in the adiponectin gene that affects mRNA stability...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs2501431	CNR2 CNR2 rs2501431	Synonymous coding variant in the cannabinoid receptor 2 gene that tags a hapl...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs3212227	IL12B 3'UTR	IL12B 3'-UTR variant forming the canonical two-SNP psoriasis risk haplotype w...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs35829419	NLRP3 Q705K	Gain-of-function missense variant in the NLRP3 inflammasome sensor that eleva...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs4810485	CD40	Intronic variant in CD40 regulating B-cell surface expression; the G allele d...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Strong
rs660895	HLA-DRB1	Regulatory tag SNP in the HLA-DRB1 region; the G allele marks the HLA-DRB1*04...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs72613567	HSD17B13 Splice Variant (;A)	Protective adenine insertion disrupting the HSD17B13 splice donor site, produ...	Liver Fat	Inflammation	Established
rs12551268	IL33 IL33 asthma-protective variant	Intronic IL33 variant where A-allele carriers showed a protective trend again...	Allergy & Atopic Disease	Inflammation	Emerging
rs174575	FADS2	Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing...	Triglycerides & Fatty Acids	Inflammation	Strong
rs1800947	CRP +1059G>C	Synonymous exon 2 variant that influences baseline C-reactive protein express...	Vascular Inflammation & Remodeling	Inflammation	Strong
rs2118181	FBN1	Intronic FBN1 variant associated with elevated thoracic aortic dissection ris...	Cardiomyopathy & Structural Heart	Inflammation	Emerging
rs2298566	SNX19	Missense variant in sorting nexin 19 that alters endolysosomal positioning at...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs28940578	MEFV M694I	Exon 10 missense variant in the inflammasome regulator pyrin, converting meth...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs3213094	IL12B Promoter-region	Intronic IL12B variant in linkage with the promoter-regulatory haplotype; T a...	Psoriasis & Spondyloarthropathy	Inflammation	Moderate
rs3783550	IL1A	Intronic variant within IL1A (Interleukin-1 alpha) associated with endometrio...	Endometriosis & Uterine Health	Inflammation	Moderate
rs558269137	FLG 2282del4	Frameshift deletion eliminating filaggrin protein, the second most common Eur...	Skin & Eyes	Inflammation	Established
rs6063	FGG Gly191Arg	Rare missense variant in the fibrinogen gamma chain that disrupts fibrin poly...	Coagulation & Clotting Factors	Inflammation	Moderate
rs6910071	TSBP1	MHC-region intronic variant tagging HLA-DRB1 shared epitope haplotypes; G all...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs12936231	ORMDL3 ORMDL3 17q21 eQTL	Regulatory tagging SNP in the 17q21 asthma locus that is the strongest eQTL f...	Allergy & Atopic Disease	Inflammation	Strong
rs174616	FADS2 FADS2 Haplotype Block Variant	Intronic FADS2 variant tagging the FADS1/FADS2 haplotype block; A allele carr...	Triglycerides & Fatty Acids	Inflammation	Strong
rs1800624	AGER -374T/A	Promoter variant in the AGER gene that increases RAGE transcription approxima...	Hormones & Sleep	Inflammation	Moderate
rs1800795	IL6 -174G/C	Promoter variant controlling interleukin-6 expression — affects inflammation,...	Fitness & Body	Inflammation	Strong
rs1831281	CFH	Intronic CFH variant that tags the complement-risk haplotype; the C allele (c...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs28940579	MEFV V726A	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs2943634	IRS1	Intergenic variant near IRS1 at 2q36.3 associated with ischemic stroke risk, ...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs3087243	CTLA4 CT60	Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs33980500	TRAF3IP2 D10N	Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs3758524	LTBR LTBR regulatory variant	Intronic regulatory variant near the lymphotoxin beta receptor gene influenci...	Innate Immunity & Infection Defense	Inflammation	Emerging
rs729302	IRF5	Near-gene variant tagging an IRF5 protective haplotype in the 5' promoter reg...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs12946510	IKZF3 IKZF3 17q21 FOXO1-enhancer variant	Regulatory variant in a FOXO1-binding enhancer element flanking the IKZF3 gen...	Allergy & Atopic Disease	Inflammation	Strong
rs1800625	AGER AGER -429T>C	Promoter variant at position -429 in the AGER gene that increases RAGE transc...	Hormones & Sleep	Inflammation	Moderate
rs1831282	CFH	Intronic CFH variant at chromosome 1q31.3 associated with AMD risk; the C all...	Vascular Inflammation & Remodeling	Inflammation	Strong
rs2069837	IL6	Intronic IL6 enhancer variant that regulates the anti-inflammatory gene GPNMB...	Longevity & Aging	Inflammation	Moderate
rs28940580	MEFV M680I	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs30021	SNX24 VEGFA Vascular Growth Co-variant	Intronic variant in SNX24 (sorting nexin 24) with roles in vascular endotheli...	Coronary Artery Disease & Atherosclerosis	Inflammation	Emerging
rs3134883	IL2RA	Intronic IL2RA variant independently associated with rheumatoid arthritis ris...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs3764880	TLR8 A1G	X-linked initiator codon variant in TLR8 that fine-tunes the ratio of two TLR...	Innate Immunity & Infection Defense	Inflammation	Strong
rs3805435	TNIP1	Intronic variant in the GPX3/TNIP1 regulatory locus on chromosome 5; the C al...	Psoriasis & Spondyloarthropathy	Inflammation	Moderate
rs4762326	VEZT VEZT Endometriosis Cell Adhesion Variant	Intronic variant in VEZT (vezatin, adherens junction transmembrane protein) o...	Endometriosis & Uterine Health	Inflammation	Strong
rs547154	C2 IVS10	Intronic C2 variant forming the H7 protective haplotype with CFB R32Q, reduci...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Strong
rs61816761	FLG R501X	Nonsense variant eliminating filaggrin protein, the major genetic risk factor...	Skin & Eyes	Inflammation	Established
rs1295685	IL13	3'-UTR regulatory variant in IL13 that influences IL-13 mRNA stability and ex...	Allergy & Atopic Disease	Inflammation	Moderate
rs1927911	TLR4	Intronic TLR4 variant in the innate immune receptor gene; the A allele associ...	Vascular Inflammation & Remodeling	Inflammation	Moderate
rs2153960	FOXO3	Intronic FOXO3 tag SNP whose A allele associates with higher circulating IGF-...	Longevity & Aging	Inflammation	Moderate
rs2301436	FGFR1OP	Intronic variant in FGFR1OP (CEP43) at the RNASET2-FGFR1OP-CCR6 autoimmune su...	IBD & Mucosal Immunity	Inflammation	Strong
rs3184504	SH2B3 R262W	Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing b...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs3743930	MEFV E148Q	Exon 2 missense variant in the inflammasome regulator pyrin; the most common ...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs3774937	NFKB1 NFKB1 promoter/regulatory variant	Intronic NFKB1 variant with genome-wide significant associations with ulcerat...	Innate Immunity & Infection Defense	Inflammation	Strong
rs41298997	IKBKE	Intronic variant in IKBKE (IKK-epsilon) associated with psoriasis susceptibil...	Psoriasis & Spondyloarthropathy	Inflammation	Moderate
rs55687265	ATP8B4 ATP8B4 Phospholipid Flippase F436L	Missense variant in ATP8B4 converting phenylalanine to leucine at position 43...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Moderate
rs6837293	PRKG2	Intronic variant in PRKG2 (cGMP-dependent protein kinase II); the T allele wa...	Uric Acid & Kidney Function	Inflammation	Emerging
rs7514229	TNFSF4 TNFSF4 OX40 ligand variant	Intronic variant in TNFSF4 that tags an upstream regulatory haplotype associa...	Interferon Signaling & Systemic Autoimmune	Inflammation	Moderate
rs1295686	IL13 IL-13 Atopy Promoter Variant	Intronic variant in IL13 that tags the atopic risk haplotype; the minor T all...	Allergy & Atopic Disease	Inflammation	Strong
rs1414273	CD58	Intronic CD58 variant hosting the miR-548ac stem-loop; the C allele creates a...	Neurology & Cognition	Inflammation	Strong
rs17300539	ADIPOQ -11391G>A	Promoter variant affecting adiponectin secretion and metabolic syndrome risk	Fat Storage & Energy	Inflammation	Strong
rs2631367	SLC22A5 OCTN2 -207C>G	Promoter variant in SLC22A5 (OCTN2) that reduces carnitine transporter expres...	IBD & Mucosal Immunity	Inflammation	Strong
rs340875	PROX1	Intronic variant in PROX1, the master transcription factor for lymphatic endo...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs35018800	TYK2 TYK2 Ala928Val	A rare missense variant in the TYK2 pseudokinase (JH2) domain that partially ...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs3748067	IL17A	3'UTR variant in IL-17A that alters post-transcriptional regulation via miRNA...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs3775291	TLR3 Leu412Phe	Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antivir...	Innate Immunity & Infection Defense	Inflammation	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	Inflammation	Established
rs4848306	IL1B	IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the...	Endometriosis & Uterine Health	Inflammation	Emerging
rs641153	CFB R32Q	Protective missense variant in complement factor B that reduces alternative p...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Strong
rs7574865	STAT4 Intron 3	Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs13408661	IL1RL1	Intronic variant in IL1RL1 (encoding the ST2 receptor for IL-33) tagging hapl...	Allergy & Atopic Disease	Inflammation	Moderate
rs2253310	FOXO3	Intronic FOXO3 longevity variant; C allele (minor in East Asians) associated ...	Longevity & Aging	Inflammation	Moderate
rs28929474	SERPINA1 Z allele (E342K)	Most common alpha-1 antitrypsin deficiency variant causing protein misfolding...	Metabolic Enzymes & Rare Disorders	Inflammation	Established
rs3761847	TRAF1	Intronic GWAS variant in the TRAF1-C5 locus on chromosome 9 robustly associat...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs3796508	TLR6 Val327Met	Missense variant substituting valine with methionine at position 327 of TLR6,...	Innate Immunity & Infection Defense	Inflammation	Emerging
rs4406273	HLA-C	Near-HLA-C intergenic variant that tags HLA-C*06:02 haplotype, conferring ris...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs6445975	PXK	Intronic PXK variant; the G allele is a replicated GWAS risk allele for syste...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Moderate
rs1342326	IL33 IL33 regulatory variant	Regulatory variant upstream of IL33; the C allele elevates IL-33 expression, ...	Allergy & Atopic Disease	Inflammation	Strong
rs2274700	CFH A473A	Synonymous CFH variant in complete LD with rs1410996 that tags the complement...	Longevity & Aging	Inflammation	Strong
rs3790565	IL12RB2	Intronic IL12RB2 variant associated with IL-12 signaling pathway variation an...	IBD & Mucosal Immunity	Inflammation	Moderate
rs3804099	TLR2	Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splic...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs3816769	STAT3 STAT3 co-variant	Intronic STAT3 variant where the T allele (reference, ~66%) increases risk fo...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs3825942	LOXL1 G153D (Gly153Asp)	Missense variant in the elastin-crosslinking enzyme LOXL1; the common G allel...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs41295061	IL2RA	Regulatory variant in the IL2RA locus altering LEF1 transcription factor bind...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs519664	TTC39B TTC39B rs519664	Intronic variant in TTC39B (9p22) that increases endometriosis susceptibility...	Endometriosis & Uterine Health	Inflammation	Strong
rs582757	TNFAIP3 TNFAIP3 A20 regulatory variant	Intronic regulatory variant in TNFAIP3 — the primary NF-kB brake gene — with ...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs7151526	SERPINA1	Regulatory variant downstream of SERPINA1 associated with increased susceptib...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Moderate
rs9268839	HLA-DRA	Intergenic tag SNP upstream of HLA-DRA; the G allele is the primary GWAS sign...	Interferon Signaling & Systemic Autoimmune	Inflammation	Strong
rs13424006	IL1RL1	Intronic IL1RL1 variant in the 10th intron of the ST2 receptor gene; C allele...	Allergy & Atopic Disease	Inflammation	Moderate
rs3850641	TNFSF4 TNFSF4 (OX40L) Intron 1 Variant	Intronic variant in TNFSF4 (OX40 ligand) linked to a promoter haplotype that ...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs3890745	MMEL1 MMEL1 rs3890745	Intronic variant near MMEL1 and TNFRSF14 on chromosome 1p36; the C allele is ...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs559406	PTPN2	Intronic PTPN2 variant whose G allele reduces T-cell protein tyrosine phospha...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Moderate
rs610604	TNFAIP3	Intronic variant in TNFAIP3 whose G allele is the primary psoriasis susceptib...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs1420101	IL1RL1	Intronic regulatory variant in IL1RL1 that lowers soluble ST2 (sST2) decoy re...	Allergy & Atopic Disease	Inflammation	Strong
rs2104772	TNC	Affects tenascin C protein levels and elasticity, influencing tendon injury r...	Fitness & Body	Inflammation	Strong
rs3918242	MMP9 MMP9 C-1562T	Promoter variant that disrupts an SP1 transcription factor binding site, incr...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs4845625	IL6R	Intronic IL6R variant associated with coronary artery disease risk, elevated ...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs5742909	CTLA4 Promoter -318C/T	Promoter variant that increases CTLA-4 transcription; T allele carriers show ...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Moderate
rs61751629	CARD14 Glu422Lys	Rare missense variant in the keratinocyte NF-κB scaffold protein CARD14 that ...	Psoriasis & Spondyloarthropathy	Inflammation	Emerging
rs6542095	IL1A IL1A rs6542095	Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with m...	Endometriosis & Uterine Health	Inflammation	Moderate
rs7528684	FCRL3 -169C>T	Promoter variant in FCRL3 that alters NF-κB binding and elevates FCRL3 expres...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Moderate
rs146527530	CTSS CTSS AD Risk Signal (Budu-Aggrey 2023)	Third independent CTSS-locus atopic dermatitis risk signal from the Budu-Aggr...	Allergy & Atopic Disease	Inflammation	Moderate
rs1718119	P2RX7 Ala348Thr	Gain-of-function variant in the P2X7 receptor that increases ATP-gated pore f...	Neurology & Cognition	Inflammation	Moderate
rs182052	ADIPOQ ADIPOQ promoter -10066A>G	Intronic/promoter-region ADIPOQ variant where the A allele reduces circulatin...	Fat Storage & Energy	Inflammation	Strong
rs2536	MTOR	3'UTR variant that alters miR-150 binding affinity; the C allele increases mi...	Longevity & Aging	Inflammation	Moderate
rs4252130	PLG PLG promoter/intronic variant	Intronic PLG variant tagging a regional haplotype that reduces plasminogen ex...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs4537545	IL6R IL6R intron variant	Intronic IL6R variant in linkage disequilibrium with the functional Asp358Ala...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs4562997	SMAD3	Second intronic enhancer variant in SMAD3 that modulates TGF-beta effector si...	IBD & Mucosal Immunity	Inflammation	Moderate
rs5029937	TNFAIP3	Intronic risk variant within TNFAIP3 intron 2 that independently increases su...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs6887695	IL12B Upstream regulatory	Upstream regulatory variant ~60 kb 5' of IL12B, forming the canonical two-SNP...	Psoriasis & Spondyloarthropathy	Inflammation	Strong
rs7234029	PTPN2	Intronic PTPN2 variant that reduces expression of T-cell protein tyrosine pho...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Strong
rs7951	C3	Synonymous C3 variant associated with reduced serum complement C3 levels and ...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Moderate
rs146597587	IL33	Rare splice acceptor variant that abolishes IL-33/ST2 signalling; the C allel...	Allergy & Atopic Disease	Inflammation	Strong
rs1862513	RETN -420C>G	Promoter variant that increases resistin expression via Sp1/Sp3 transcription...	Fat Storage & Energy	Inflammation	Moderate
rs2236212	ELOVL2	Intronic variant in ELOVL2 that reduces elongase-2 enzyme activity, impairing...	Triglycerides & Fatty Acids	Inflammation	Moderate
rs4252185	PLG	Intronic PLG variant (intron 1) whose C allele is enriched in Europeans and a...	Innate Immunity & Infection Defense	Inflammation	Emerging
rs4888378	CFDP1	Intronic CFDP1 locus variant that regulates BCAR1 expression in vascular tiss...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs5029939	TNFAIP3	Intronic variant near TNFAIP3 that tags a 6q23 haplotype strongly associated ...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs6757908	EIF2AK3-AS1	Rare intronic variant in EIF2AK3-AS1, an antisense long non-coding RNA that r...	Endometriosis & Uterine Health	Inflammation	Emerging
rs7152376	NFKBIA	Regulatory variant upstream of NFKBIA that specifically elevates risk of psor...	Psoriasis & Spondyloarthropathy	Inflammation	Moderate
rs841	GCH1	Intronic/3'UTR GCH1 variant tagging reduced tetrahydrobiopterin (BH4) synthes...	Blood Pressure & Hypertension	Inflammation	Moderate
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	Inflammation	Strong
rs167769	STAT6	Intronic variant in STAT6 (intron 2) that forms a functional haplotype with r...	Allergy & Atopic Disease	Inflammation	Strong
rs243865	MMP2 C-1306T	Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enz...	Fitness & Body	Inflammation	Moderate
rs2672598	HTRA1	Promoter variant at -487 in HTRA1 that elevates HTRA1 serine protease express...	Longevity & Aging	Inflammation	Strong
rs3091244	CRP -286C>T>A	Triallelic promoter variant that strongly influences basal CRP transcription;...	Vascular Inflammation & Remodeling	Inflammation	Strong
rs4648127	NFKB1 NFKB1 intronic variant	Rare protective intronic variant in the master immune transcription factor NF...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs4958847	IRGM	Intronic IRGM variant that impairs autophagy-mediated clearance of intracellu...	IBD & Mucosal Immunity	Inflammation	Strong
rs61752717	MEFV M694V	The most common and clinically severe MEFV mutation, converting methionine to...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Established
rs72634030	RABEP1	Intronic RABEP1 variant associated with rheumatoid arthritis risk, acting thr...	Autoimmune Tolerance & T-Cell Regulation	Inflammation	Emerging
rs9332739	C2 E318D	Missense variant in complement component C2 forming a protective haplotype wi...	B-Cell Immunity & Antibody-Mediated Disease	Inflammation	Strong
rs16947078	TBX21 TBX21 T-bet asthma variant	Intergenic regulatory variant near TBX21 associated with allergic asthma susc...	Allergy & Atopic Disease	Inflammation	Strong
rs2524299	FADS2	Intronic regulatory variant in FADS2 (Block 2 haplotype) that reduces basal F...	Triglycerides & Fatty Acids	Inflammation	Moderate
rs3093059	CRP -757T>C	Promoter variant that elevates baseline C-reactive protein levels, increasing...	Vascular Inflammation & Remodeling	Inflammation	Strong
rs4696480	TLR2 T-16934A	Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, asso...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs501120	CXCL12	Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevat...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs61753993	VWF D141G	Missense variant in von Willebrand factor (p.Asp141Gly) associated with type ...	Von Willebrand & Anticoagulant Proteins	Inflammation	Moderate
rs6920220	TNFAIP3	Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impair...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Strong
rs7746808	IL23A	Intergenic variant near the IL23A locus associated with psoriasis and psoriat...	Psoriasis & Spondyloarthropathy	Inflammation	Emerging
rs17250932	TBX21 TBX21 Promoter Variant	Upstream promoter variant in TBX21 that reduces neonatal IL-5 and IL-13 secre...	Allergy & Atopic Disease	Inflammation	Emerging
rs2764264	FOXO3	Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding sit...	Longevity & Aging	Inflammation	Strong
rs4073	IL8 -251A>T	Promoter variant affecting interleukin-8 transcription and inflammatory burden	Vascular Inflammation & Remodeling	Inflammation	Strong
rs4833095	TLR1 N248S	Missense variant replacing asparagine with serine at TLR1 position 248 in the...	Innate Immunity & Infection Defense	Inflammation	Strong
rs505922	ABO ABO blood group tag SNP	Tag SNP for the ABO blood group locus; T allele marks blood type O (lower clo...	Coronary Artery Disease & Atherosclerosis	Inflammation	Established
rs6693831	IL23R	Intronic IL23R variant where the minor T allele is associated with increased ...	IBD & Mucosal Immunity	Inflammation	Moderate
rs763780	IL17F His161Arg	Missense variant that reduces IL-17F bioactivity and acts as a natural IL-17F...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs17293632	SMAD3	Intronic regulatory variant in SMAD3 that alters TGF-beta effector signaling ...	Allergy & Atopic Disease	Inflammation	Strong
rs2779249	NOS2 Promoter -1026C/A	Functional promoter variant that increases iNOS transcriptional activity up t...	Longevity & Aging	Inflammation	Moderate
rs3025058	MMP3 5A/6A	Promoter polymorphism affecting MMP3 enzyme expression levels, influencing ca...	Fitness & Body	Inflammation	Strong
rs4729189	PON2	Intronic PON2 variant associated with variation in serum paraoxonase activity...	Vascular Inflammation & Remodeling	Inflammation	Emerging
rs4986790	TLR4 Asp299Gly	Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recogni...	Innate Immunity & Infection Defense	Inflammation	Strong
rs56062135	SMAD3 SMAD3 intronic variant	Intronic SMAD3 variant tagging the CAD-protective haplotype where the T allel...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs689466	PTGS2 A-1195G	Promoter variant in the PTGS2/COX-2 gene that reduces baseline COX-2 expressi...	IBD & Mucosal Immunity	Inflammation	Moderate
rs6947337	INHBA	Activin A signaling variant near INHBA linking adipocyte dysfunction to share...	Appetite & Obesity	Inflammation	Moderate
rs7753394	TNFAIP3	Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3 that co-...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	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	Inflammation	Strong
rs2802292	FOXO3	Longevity-associated intronic enhancer variant with 1.9-fold increased probab...	Longevity & Aging	Inflammation	Established
rs4986791	TLR4 Thr399Ile	Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on...	Innate Immunity & Infection Defense	Inflammation	Strong
rs6908425	CDKAL1	Intronic variant in CDKAL1, a tRNA methylthiotransferase gene; the C allele i...	IBD & Mucosal Immunity	Inflammation	Strong
rs9807989	IL18R1	Upstream regulatory variant of IL18R1 on chromosome 2q12; the T risk allele i...	TNF, NF-kB & Inflammatory Cytokines	Inflammation	Moderate
rs17699436	TBX21 TBX21 Downstream Regulatory Variant	Intergenic variant 5 kb downstream of TBX21 (encoding the T-bet transcription...	Allergy & Atopic Disease	Inflammation	Moderate
rs1800693	TNFRSF1A	Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking ...	Neurology & Cognition	Inflammation	Strong
rs1801181	CBS A360A	A synonymous variant in CBS affecting homocysteine metabolism and associated ...	Methylation & Detox	Inflammation	Moderate
rs2811712	CDKN2BAS	Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus that ...	Longevity & Aging	Inflammation	Moderate
rs5743618	TLR1 I602S	Coding variant replacing isoleucine with serine at TLR1 position 602, disrupt...	Innate Immunity & Infection Defense	Inflammation	Strong
rs619203	ROS1 Ser2229Cys	Missense variant in the ROS1 receptor tyrosine kinase associated with atherot...	Coronary Artery Disease & Atherosclerosis	Inflammation	Emerging
rs867186	PROCR S219G	Missense variant in the endothelial protein C receptor gene that increases EP...	Von Willebrand & Anticoagulant Proteins	Inflammation	Strong
rs1800925	IL13 -1112C>T	Promoter variant that selectively increases IL-13 expression in Th2 lymphocyt...	Allergy & Atopic Disease	Inflammation	Strong
rs266729	ADIPOQ -11391G>C	Promoter variant reducing adiponectin transcription, increasing T2D, NAFLD, a...	Fat Storage & Energy	Inflammation	Strong
rs5743708	TLR2 R753Q	Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to...	Innate Immunity & Infection Defense	Inflammation	Strong
rs6797312	SERPINI1	Intronic variant in the neuroserpin gene; the A allele has been associated wi...	Coronary Artery Disease & Atherosclerosis	Inflammation	Emerging
rs7030781	VEGFA VEGFA Regulatory Co-variant	Chromosome 9 regulatory co-variant near a lncRNA locus that co-segregates wit...	Vascular Inflammation & Remodeling	Inflammation	Emerging
rs7517847	IL23R	Intronic IL23R variant in which the T allele increases susceptibility to Croh...	IBD & Mucosal Immunity	Inflammation	Strong
rs1801275	IL4R Q576R	Gain-of-function missense variant in the IL-4 receptor alpha chain that ampli...	Allergy & Atopic Disease	Inflammation	Strong
rs5743810	TLR6 Ser249Pro	Coding variant replacing serine with proline at TLR6 position 249, altering T...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs7530511	IL23R Leu310Pro	Missense variant in the IL-23 receptor that substitutes leucine for proline a...	IBD & Mucosal Immunity	Inflammation	Moderate
rs1805010	IL4R Ile75Val	Missense variant in the extracellular domain of the IL-4 receptor alpha chain...	Allergy & Atopic Disease	Inflammation	Moderate
rs5743836	TLR9 Promoter -1237T/C	TLR9 promoter variant that creates an IL-6-responsive element and estrogen-se...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs60910145	APOL1 G1 I384M	Second component of the APOL1 G1 kidney disease risk haplotype — a missense v...	Cholesterol & Lipoproteins	Inflammation	Established
rs700651	BOLL	Intronic variant near the BOLL gene associated with increased intracranial an...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs1805011	IL4R IL4R Glu375Ala	Missense variant in the extracellular domain of the IL-4 receptor alpha chain...	Allergy & Atopic Disease	Inflammation	Moderate
rs350845	SIRT6	Intronic eQTL in SIRT6 where the rare A allele upregulates SIRT6 expression a...	Longevity & Aging	Inflammation	Moderate
rs7025486	DAB2IP DAB2IP intron variant	Intronic variant in DAB2IP associated with increased risk of abdominal aortic...	Coronary Artery Disease & Atherosclerosis	Inflammation	Strong
rs1837253	TSLP Upstream Variant	Upstream regulatory variant in TSLP reducing cytokine expression; the protect...	Allergy & Atopic Disease	Inflammation	Strong
rs28362944	SERPING1	5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, re...	Hormones & Sleep	Inflammation	Moderate
rs187080438	CTSS Cathepsin S antigen presentation variant	Intronic variant in the CTSS locus associated with elevated atopic dermatitis...	Allergy & Atopic Disease	Inflammation	Moderate
rs1979277	SHMT1 C1420T	Alters one-carbon metabolism and folate distribution; influences cancer risk,...	Methylation & Detox	Inflammation	Moderate
rs3803304	AKT1	Intronic AKT1 variant near a conserved exon-intron boundary; the G allele is ...	Longevity & Aging	Inflammation	Moderate
rs7091565	ANXA11 ANXA11 rs7091565	3' UTR variant in ANXA11 (annexin A11) in strong LD with the functional R230C...	Innate Immunity & Infection Defense	Inflammation	Moderate
rs2230912	P2RX7 Gln460Arg	Missense variant in the C-terminal domain of the P2X7 receptor that disrupts ...	Neurology & Cognition	Inflammation	Moderate
rs34536443	TYK2 TYK2 p.Pro1104Ala	A missense variant in TYK2 that partially impairs JAK-family signaling downst...	Hormones & Sleep	Inflammation	Strong
rs4946935	FOXO3	Functionally validated FOXO3 intronic variant that creates an SRF binding sit...	Longevity & Aging	Inflammation	Strong
rs767603	LOC105378189	Regulatory variant near LOC105378189 non-coding RNA locus on chromosome 14q23...	Coronary Artery Disease & Atherosclerosis	Inflammation	Moderate
rs9298506	SOX17	Regulatory tag variant near SOX17 at chromosome 8q11.23 associated with intra...	Vascular Inflammation & Remodeling	Inflammation	Strong
rs1898671	TSLP TSLP Intronic Variant (Atopic Dermatitis)	Intronic TSLP variant that modulates thymic stromal lymphopoietin activity, w...	Allergy & Atopic Disease	Inflammation	Moderate
rs1950897	RAD51B RAD51B Intronic RA Susceptibility Variant	Intronic variant in RAD51B on chromosome 14; the T allele is associated with ...	Allergy & Atopic Disease	Inflammation	Strong
rs2300747	CD58	Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg...	Neurology & Cognition	Inflammation	Strong
rs551397	CFH	Intronic CFH variant that tags the AMD-risk haplotype; the C allele tracks co...	Longevity & Aging	Inflammation	Moderate
rs7664413	VEGFC	Intronic variant in the primary lymphangiogenesis growth factor gene associat...	Innate Immunity & Infection Defense	Inflammation	Emerging
rs9818870	MRAS	3' UTR variant near miRNA binding sites in MRAS, associated with ~15% increas...	Coronary Artery Disease & Atherosclerosis	Inflammation	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	Inflammation	Strong
rs8177374	TIRAP Ser180Leu	Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate i...	Innate Immunity & Infection Defense	Inflammation	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	Inflammation	Moderate
rs20541	IL13 R130Q	Missense variant in IL-13 that enhances Th2 cytokine signaling, elevating ser...	Allergy & Atopic Disease	Inflammation	Strong
rs2069705	IFNG IFNG Promoter -1616C/T	Upstream regulatory variant ~1,616 bp before the IFNG transcription start sit...	Allergy & Atopic Disease	Inflammation	Moderate
rs3816183	HAAO Ile37Val	Missense variant in the kynurenine pathway enzyme HAAO that shifts tryptophan...	Hormones & Sleep	Inflammation	Moderate
rs2070874	IL4 IL4 C-33T	5'-UTR variant 33 bases downstream of the IL-4 transcription start site; the ...	Allergy & Atopic Disease	Inflammation	Strong
rs2158177	TH2LCRR RAD50/IL13 Region Variant	Intronic variant in TH2LCRR, a long noncoding RNA residing in the 5q31.1 RAD5...	Allergy & Atopic Disease	Inflammation	Moderate
rs2227284	IL4 IL4 T+2979G	Intronic regulatory variant in IL-4, the master Th2 cytokine; the T allele im...	Allergy & Atopic Disease	Inflammation	Moderate
rs2228145	IL6R Asp358Ala	Missense variant in the IL-6 receptor that increases receptor shedding and en...	Allergy & Atopic Disease	Inflammation	Strong
rs2240032	RAD50 RAD50 RHS7 TH2-LCR Variant	Intronic RAD50 variant in the Th2 locus control region (RHS7); T allele alter...	Allergy & Atopic Disease	Inflammation	Moderate
rs6954668	SFRP5 SFRP5 Wnt5a inhibitor variant	Intergenic variant near the SFRP5 adipokine locus; the A allele is strongly e...	Fat Storage & Energy	Inflammation	Emerging
rs2243250	IL4 IL4 -589C>T	Promoter polymorphism 589 bases upstream of the IL-4 transcription start site...	Allergy & Atopic Disease	Inflammation	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	Inflammation	Moderate
rs4926	SERPING1 Val480Met	Missense variant in C1-inhibitor gene associated with insomnia risk through n...	Hormones & Sleep	Inflammation	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	Inflammation	Moderate
rs9470080	FKBP5	Intronic FKBP5 variant in the stress-aging haplotype block — T allele carrier...	Longevity & Aging	Inflammation	Strong
rs2297839	CHI3L1 CHI3L1 Intron Variant	Intronic variant in CHI3L1 associated with circulating YKL-40 levels and modu...	Allergy & Atopic Disease	Inflammation	Emerging
rs2303065	SPINK5 SPINK5 His396His (c.1188T>C)	Synonymous variant in SPINK5 exon 13 that tags the same risk haplotype as the...	Allergy & Atopic Disease	Inflammation	Moderate
rs2303067	SPINK5 SPINK5 Lys420Glu	Missense variant in SPINK5 encoding LEKTI domain 6 (p.Lys420Glu) that increas...	Allergy & Atopic Disease	Inflammation	Moderate
rs2305480	GSDMB GSDMB Pro311Ser protective haplotype	Missense variant in gasdermin B that increases GSDMB expression and pyroptoti...	Allergy & Atopic Disease	Inflammation	Strong
rs3751143	P2RX7 Glu496Ala	Loss-of-function variant in the P2X7 receptor that reduces inflammatory respo...	Neurology & Cognition	Inflammation	Strong
rs2602899	ADH5 ADH5 Promoter NF-kB Variant	Regulatory SNP in the ADH5 promoter at a potential NF-kB binding site; the pr...	Allergy & Atopic Disease	Inflammation	Moderate
rs968567	FADS2 FADS2 Promoter D6D Activity Variant	Promoter variant in FADS2 that increases delta-6 desaturase (D6D) expression ...	Triglycerides & Fatty Acids	Inflammation	Moderate
rs2851301	ADH5 ADH5 Second NF-kB Site Variant	Upstream promoter variant in ADH5 at a potential NF-kB binding site; the mino...	Allergy & Atopic Disease	Inflammation	Emerging
rs2872507	IKZF3	17q21 regulatory variant in the IKZF3-ORMDL3-GSDMB locus with opposite effect...	Allergy & Atopic Disease	Inflammation	Strong
rs4684059	HRH1	Intronic variant in the histamine H1 receptor gene associated with altered re...	Methylation & Detox	Inflammation	Emerging
rs99780	FADS2	Intronic variant in the FADS1-FADS2 cluster influencing delta-6 desaturase ac...	Triglycerides & Fatty Acids	Inflammation	Moderate
rs28730619	ADH5	Intronic variant in ADH5 (GSNOR) associated with elevated childhood asthma ri...	Allergy & Atopic Disease	Inflammation	Moderate
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	Inflammation	Strong
rs4149584	TNFRSF1A R92Q	Missense variant in TNF receptor 1 that causes low-penetrance TRAPS (recurren...	Neurology & Cognition	Inflammation	Strong
rs3024971	STAT6	Intronic variant in STAT6 near the 3' end of the gene that modulates STAT6 mR...	Allergy & Atopic Disease	Inflammation	Moderate
rs4803217	IFNL3 3'UTR	3' untranslated region variant in IFNL3 (IL28B) that controls mRNA stability ...	Pharmacogenomics	Inflammation	Strong
rs324011	STAT6	Intronic variant in STAT6 (intron 2) that creates an NF-κB binding site, incr...	Allergy & Atopic Disease	Inflammation	Strong
rs324013	STAT6	Promoter variant in STAT6 that alters transcription factor binding; the T all...	Allergy & Atopic Disease	Inflammation	Moderate
rs653178	SH2B3 ATXN2/SH2B3 12q24 pleiotropic locus	Pleiotropic 12q24 locus variant in SH2B3 (LNK) modulating JAK-STAT cytokine s...	Blood Sugar & Diabetes	Inflammation	Strong
rs78534766	ADCY7 ADCY7 D439E	Low-frequency missense variant in adenylyl cyclase 7 that reduces cAMP synthe...	Hormones & Sleep	Inflammation	Strong
rs35699176	ZNF77 ZNF77 Q100*	Nonsense variant truncating ZNF77 at codon 100, impairing bronchial epithelia...	Allergy & Atopic Disease	Inflammation	Emerging
rs3771166	IL1RL1/IL18R1	GABRIEL Consortium lead GWAS SNP at the IL1RL1/IL18R1 locus on chromosome 2q1...	Allergy & Atopic Disease	Inflammation	Strong
rs3771175	IL1RL1 IL1RL1 receptor variant	A 3'-UTR variant in IL1RL1 (the ST2 receptor gene); the A allele increases ST...	Allergy & Atopic Disease	Inflammation	Moderate
rs819147	AHCY	Regulatory variant affecting S-adenosylhomocysteine hydrolase expression, inf...	Methylation & Detox	Inflammation	Moderate
rs3806933	TSLP	Functional promoter variant in TSLP that creates an AP-1 transcription factor...	Allergy & Atopic Disease	Inflammation	Moderate
rs3939286	IL33 IL33 intronic asthma variant	Regulatory variant ~5 kb upstream of IL33; the T allele is associated with in...	Allergy & Atopic Disease	Inflammation	Strong
rs4129267	IL6R IL6R intronic multi-trait variant	Intronic IL6R variant in perfect linkage disequilibrium with the functional A...	Allergy & Atopic Disease	Inflammation	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	Inflammation	Moderate
rs4950928	CHI3L1 YKL-40 Promoter Variant (-131C>G)	Promoter variant controlling YKL-40 (chitinase 3-like 1) expression; the comm...	Allergy & Atopic Disease	Inflammation	Strong
rs6062486	RTEL1 Telomere helicase immune variant	Intronic variant in RTEL1 (regulator of telomere elongation helicase 1) assoc...	Allergy & Atopic Disease	Inflammation	Strong
rs61816766	FLG Filaggrin second variant	Intronic FLG-locus variant strongly associated with atopic dermatitis — the C...	Allergy & Atopic Disease	Inflammation	Strong
rs6589702	PRG2 PRG2 Eosinophil Major Basic Protein Variant	Intergenic regulatory variant near the PRG2/PRG3 eosinophil granule protein c...	Allergy & Atopic Disease	Inflammation	Emerging
rs7125552	EMSY EMSY Haplotype Partner Allergy Variant	Intronic EMSY variant that defines the high-risk haplotype at 11q13.5; the G ...	Allergy & Atopic Disease	Inflammation	Moderate
rs7130588	LRRC32	Regulatory variant near LRRC32 (GARP) on chromosome 11q13.5; the G allele inc...	Allergy & Atopic Disease	Inflammation	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	Inflammation	Strong
rs7192	HLA-DRA HLA-DRA Leu242Val	Missense variant (Leu242Val) in the HLA-DRA alpha chain; the T allele tags HL...	Allergy & Atopic Disease	Inflammation	Strong
rs7216389	GSDMB ORMDL3 17q21 asthma risk	Intronic GSDMB variant that acts as an eQTL for ORMDL3; the T allele elevates...	Allergy & Atopic Disease	Inflammation	Established
rs72823628	IL1RL1	Intronic variant in the IL1RL1/IL18R1 receptor gene cluster on chromosome 2q1...	Allergy & Atopic Disease	Inflammation	Moderate
rs7927894	EMSY	Regulatory variant near the EMSY/C11orf30 locus; T allele increases EMSY expr...	Allergy & Atopic Disease	Inflammation	Strong
rs7927997	EMSY EMSY/C11orf30 Atopy Regulatory Variant	Regulatory variant near C11orf30 (EMSY) on chromosome 11q13.5; the T allele r...	Allergy & Atopic Disease	Inflammation	Strong
rs8111930	MRPL4 MRPL4 Atopy-Associated Intronic Variant	Intronic variant in MRPL4 on chromosome 19p13.2 that alters transcription fac...	Allergy & Atopic Disease	Inflammation	Moderate
rs6897932	IL7R T244I	Splicing variant in the IL-7 receptor alpha chain that shifts the balance tow...	Neurology & Cognition	Inflammation	Strong
rs872129	CHI3L1 CHI3L1 eQTL Variant	Third independent eQTL signal at the CHI3L1/YKL-40 locus on chromosome 1q32.1...	Allergy & Atopic Disease	Inflammation	Moderate
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	Inflammation	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	Inflammation	Moderate
rs911263	RAD51B RAD51B RA Proxy Variant	Intronic proxy variant in RAD51B associated with seropositive rheumatoid arth...	Allergy & Atopic Disease	Inflammation	Moderate
rs8099917	IFNL3	Intergenic variant upstream of IFNL3 — second major IL28B locus predictor of ...	Pharmacogenomics	Inflammation	Established
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	Inflammation	Strong
rs950881	IL1RL1 IL1RL1 intronic variant	Intronic variant in the IL1RL1 gene on chromosome 2q12 encoding the ST2 recep...	Allergy & Atopic Disease	Inflammation	Moderate
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	Inflammation	Emerging
rs992969	IL33	Regulatory variant upstream of IL33 encoding interleukin-33; the A allele inc...	Allergy & Atopic Disease	Inflammation	Strong
rs7958311	P2RX7 Arg270His	P2RX7 variant with a unique dual mechanism — gain-of-function in channel open...	Neurology & Cognition	Inflammation	Moderate