Tag

Inflammation

129 genetic variants with this tag.

RSID	Gene	Description	Category
rs2274327	CA6 Thr55Met	Reduces salivary carbonic anhydrase VI (gustin) secretion, impairing oral aci...	Dental & Oral Health	Dental & Oral Health Zinc Microbiome	Moderate
rs2802292	FOXO3	Longevity-associated intronic enhancer variant with 1.9-fold increased probab...	Longevity & Aging	Longevity Aging Cardiovascular	Established
rs1537415	GLT6D1	Intronic variant in GLT6D1 reducing GATA-3 transcription factor binding in T ...	Dental & Oral Health	Dental & Oral Health Inflammation Immune System	Strong
rs4986790	TLR4 Asp299Gly	Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recogni...	Immune & Gut	Immune System Inflammation Autoimmune	Strong
rs1800896	IL10 -1082 A>G	Promoter variant affecting IL-10 production — the master anti-inflammatory cy...	Immune & Gut	Immune & Autoimmune Inflammation Autoimmune	Strong
rs2738058	DEFA1A3	Intergenic variant downstream of the DEFA1A3 alpha-defensin locus; T risk all...	Dental & Oral Health	Dental & Oral Health Innate Immunity Inflammation	Strong
rs11136000	CLU	Intronic variant in clusterin gene affecting Alzheimer's disease risk through...	Neurology & Cognition	Alzheimer's Neurological Risk Cardiovascular	Established
rs1800629	TNF -308 G>A	Promoter variant increasing TNF-alpha production approximately 2-fold, associ...	Immune & Gut	Immune & Autoimmune Inflammation Drug Metabolism	Strong
rs12700667	7p15.2 (near HOXA10/HOXA11)	Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may i...	Fertility & Reproductive Health	Endometriosis Reproductive Health Fertility	Established
rs198968	KLK4	Intronic variant in kallikrein-related peptidase 4 gene affecting KLK4 expres...	Dental & Oral Health	Dental & Oral Health Enamel Health Minerals	Moderate
rs3087243	CTLA4 CT60	Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation...	Immune & Gut	Immune & Autoimmune Thyroid Diabetes	Strong
rs1061170	CFH Y402H	Strongly increases risk of age-related macular degeneration through impaired ...	Skin & Eyes	Eye Health Inflammation Cardiovascular	Established
rs1205	CRP +1846C>T	3' UTR variant that modulates baseline C-reactive protein levels and inflamma...	Heart & Inflammation	Inflammation Cardiovascular Diabetes	Strong
rs1800795	IL6 -174G/C	Promoter variant controlling interleukin-6 expression — affects inflammation,...	Fitness & Body	Inflammation Cardiovascular Fitness	Strong
rs2004640	IRF5 G198T	Intronic variant creating alternative splice site that increases type I inter...	Immune & Gut	Immune & Autoimmune Inflammation Interferon	Strong
rs16944	IL1B -511C>T	Promoter variant affecting IL-1 beta production, influencing inflammatory res...	Heart & Inflammation	Inflammation Cardiovascular Sepsis	Strong
rs2230199	C3 R102G	Missense variant in complement C3 increasing risk of age-related macular dege...	Skin & Eyes	Eye Health Inflammation Aging	Established
rs350845	SIRT6	Intronic eQTL in SIRT6 where the rare A allele upregulates SIRT6 expression a...	Longevity & Aging	Longevity Aging Telomere Biology	Moderate
rs11209026	IL23R R381Q	Strongly protective variant against inflammatory bowel disease and other auto...	Immune & Gut	Inflammation Autoimmune Immune System	Established
rs1801181	CBS A360A	A synonymous variant in CBS affecting homocysteine metabolism and associated ...	Methylation & Detox	Methylation Homocysteine B Vitamins	Moderate
rs5128	APOC3 3238C>G (SstI)	Regulates triglyceride metabolism through effects on APOC3 expression in the ...	Heart & Inflammation	Triglycerides Cardiovascular Cholesterol	Strong
rs13107325	SLC39A8 A391T	Zinc and manganese transporter variant that reduces metal ion absorption, aff...	Immune & Gut	Cardiovascular Inflammation Diet	Strong
rs1800947	CRP +1059G>C	Synonymous exon 2 variant that influences baseline C-reactive protein express...	Heart & Inflammation	Inflammation Cardiovascular Cancer Risk	Strong
rs1862513	RETN -420C>G	Promoter variant that increases resistin expression via Sp1/Sp3 transcription...	Energy & Weight	Nutrition & Metabolism Insulin Resistance Inflammation	Moderate
rs1979277	SHMT1 C1420T	Alters one-carbon metabolism and folate distribution; influences cancer risk,...	Methylation & Detox	Methylation Folate B Vitamins	Moderate
rs4073	IL8 -251A>T	Promoter variant affecting interleukin-8 transcription and inflammatory burden	Heart & Inflammation	Inflammation Cardiovascular Heart Disease	Strong
rs1250248	FN1	Intronic variant in the fibronectin 1 gene associated with increased suscepti...	Fertility & Reproductive Health	Endometriosis Fertility Reproductive Health	Strong
rs17300539	ADIPOQ -11391G>A	Promoter variant affecting adiponectin secretion and metabolic syndrome risk	Energy & Weight	Nutrition & Metabolism Insulin Diabetes	Strong
rs1800872	IL10 -592 C>A	Promoter variant affecting IL-10 production — a key anti-inflammatory cytokin...	Heart & Inflammation	Inflammation Cardiovascular Immune & Autoimmune	Strong
rs2104772	TNC	Affects tenascin C protein levels and elasticity, influencing tendon injury r...	Fitness & Body	Injury Risk Tendon Health Collagen	Strong
rs641738	MBOAT7	Regulatory variant that reduces MBOAT7 expression in the liver, impairing pho...	Lipid & Fat Metabolism	Liver Health Fat Metabolism Triglycerides	Strong
rs819147	AHCY	Regulatory variant affecting S-adenosylhomocysteine hydrolase expression, inf...	Methylation & Detox	Methylation Homocysteine Cardiovascular	Moderate
rs72613567	HSD17B13 Splice Variant (;A)	Protective adenine insertion disrupting the HSD17B13 splice donor site, produ...	Lipid & Fat Metabolism	Liver Health Fat Metabolism Alcohol	Established
rs1256335	ALPL	Intronic variant near ALPL associated with increased alkaline phosphatase act...	Vitamins & Micronutrients	B Vitamins Methylation Cardiovascular	Strong
rs6834314	HSD17B13	Intergenic tag SNP in near-perfect linkage disequilibrium with the HSD17B13 s...	Lipid & Fat Metabolism	Liver Health Fat Metabolism Liver Disease	Moderate
rs7664413	VEGFC	Intronic variant in the primary lymphangiogenesis growth factor gene associat...	Immune & Gut	Lymphatic Lipedema Fat Metabolism	Emerging
rs61816761	FLG R501X	Nonsense variant eliminating filaggrin protein, the major genetic risk factor...	Immune & Gut	Skin Health Immune & Gut Inflammation	Established
rs1501299	ADIPOQ +276G>T	Intronic variant in the adiponectin gene that influences circulating adiponec...	Heart & Inflammation	Cardiovascular Diabetes Insulin	Moderate
rs35829419	NLRP3 Q705K	Gain-of-function missense variant in the NLRP3 inflammasome sensor that eleva...	Immune & Gut	Immune & Gut Inflammation Gout	Moderate
rs1935949	FOXO3	Second independent FOXO3 longevity signal tagging a distinct intronic haploty...	Longevity & Aging	Longevity Aging Oxidative Stress	Moderate
rs2275913	IL17A -197G>A	Promoter variant in the NFAT binding site that increases IL-17A transcription...	Immune & Gut	Immune & Gut Immune & Autoimmune Inflammation	Strong
rs505922	ABO ABO blood group tag SNP	Tag SNP for the ABO blood group locus; T allele marks blood type O (lower clo...	Heart & Inflammation	Cardiovascular Thrombosis Blood Thinners	Established
rs1837253	TSLP Upstream Variant	Upstream regulatory variant in TSLP reducing cytokine expression; the protect...	Immune & Gut	Immune & Gut Asthma Inflammation	Strong
rs2241766	ADIPOQ T45G	Synonymous exon 2 variant in the adiponectin gene that affects mRNA stability...	Heart & Inflammation	Fat Metabolism Obesity Insulin	Moderate
rs2764264	FOXO3	Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding sit...	Longevity & Aging	Longevity Aging Cardiovascular	Strong
rs3126085	FLG	Intronic regulatory variant in the filaggrin gene locus that reduces FLG expr...	Skin & Eyes	Skin Health Inflammation Immune System	Strong
rs11590235	SKI	TGF-beta signaling regulator variant identified as the top shared locus betwe...	Heart & Inflammation	Inflammation Cardiovascular Diabetes	Moderate
rs143383	GDF5 C/T	Regulatory variant in GDF5 affecting cartilage development and osteoarthritis...	Fitness & Body	Bone & Joint Cartilage Inflammation	Established
rs2569190	CD14 -159C>T	Promoter variant affecting CD14 expression and LPS receptor signaling — deter...	Immune & Gut	Immune & Gut Innate Immunity Inflammation	Strong
rs2069837	IL6	Intronic IL6 enhancer variant that regulates the anti-inflammatory gene GPNMB...	Longevity & Aging	Longevity Aging Inflammation	Moderate
rs3025058	MMP3 5A/6A	Promoter polymorphism affecting MMP3 enzyme expression levels, influencing ca...	Fitness & Body	Bone & Joint Inflammation Cardiovascular	Strong
rs3803304	AKT1	Intronic AKT1 variant near a conserved exon-intron boundary; the G allele is ...	Longevity & Aging	Longevity Aging Insulin	Moderate
rs60910145	APOL1 G1 I384M	Second component of the APOL1 G1 kidney disease risk haplotype — a missense v...	Lipid & Fat Metabolism	Kidney Disease Cardiovascular Inflammation	Established
rs17465637	MIA3	Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smo...	Heart & Inflammation	Cardiovascular Atherosclerosis Inflammation	Strong
rs2230926	TNFAIP3 F127C	Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negat...	Immune & Gut	Autoimmune Inflammation Gut Barrier	Strong
rs243865	MMP2 C-1306T	Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enz...	Fitness & Body	Connective Tissue Extracellular Matrix Inflammation	Moderate
rs3751143	P2RX7 Glu496Ala	Loss-of-function variant in the P2X7 receptor that reduces inflammatory respo...	Neurology & Cognition	Pain Sensitivity Inflammation Immune Function	Strong
rs11959928	DAB2	Intronic regulatory variant that increases DAB2 expression in kidney tubules,...	Lipid & Fat Metabolism	Kidney Function Chronic Kidney Disease Fibrosis	Strong
rs1801275	IL4R Q576R	Gain-of-function missense variant in the IL-4 receptor alpha chain that ampli...	Immune & Gut	Immune & Gut Immune System Asthma	Strong
rs3184504	SH2B3 R262W	Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing b...	Heart & Inflammation	Cardiovascular Inflammation Autoimmune	Strong
rs11556924	ZC3HC1 R363H	Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363...	Heart & Inflammation	Cardiovascular Heart Disease Atherosclerosis	Strong
rs1718119	P2RX7 Ala348Thr	Gain-of-function variant in the P2X7 receptor that increases ATP-gated pore f...	Neurology & Cognition	Neuroinflammation Pain Sensitivity Inflammation	Moderate
rs7958311	P2RX7 Arg270His	P2RX7 variant with a unique dual mechanism — gain-of-function in channel open...	Neurology & Cognition	Pain Sensitivity Neuroinflammation Inflammation	Moderate
rs2230912	P2RX7 Gln460Arg	Missense variant in the C-terminal domain of the P2X7 receptor that disrupts ...	Neurology & Cognition	Neuroinflammation Mental Health Mood	Moderate
rs4946935	FOXO3	Functionally validated FOXO3 intronic variant that creates an SRF binding sit...	Longevity & Aging	Longevity Aging Oxidative Stress	Strong
rs12206094	FOXO3	Functional FOXO3 intronic variant with allele-specific CTCF binding and IGF-1...	Longevity & Aging	Longevity Aging Oxidative Stress	Strong
rs2104286	IL2RA	Intronic variant affecting IL-2 receptor alpha chain expression and soluble I...	Immune & Gut	Immune & Gut Autoimmune Type 1 Diabetes	Strong
rs6947337	INHBA	Activin A signaling variant near INHBA linking adipocyte dysfunction to share...	Energy & Weight	Obesity Fat Metabolism Inflammation	Moderate
rs17514846	FURIN	Intronic regulatory variant modulating FURIN expression via allele-specific D...	Heart & Inflammation	Cardiovascular Inflammation Blood Pressure	Strong
rs1990760	IFIH1 Ala946Thr	Gain-of-function missense variant in the MDA5 viral RNA sensor, enhancing typ...	Immune & Gut	Immune & Autoimmune Type 1 Diabetes Innate Immunity	Strong
rs6920220	TNFAIP3	Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impair...	Immune & Gut	Autoimmune Inflammation Rheumatoid Arthritis	Strong
rs9818870	MRAS	3' UTR variant near miRNA binding sites in MRAS, associated with ~15% increas...	Heart & Inflammation	Cardiovascular Inflammation Statins	Strong
rs13217795	FOXO3	Original 2008 Willcox longevity discovery variant; C allele tags the protecti...	Longevity & Aging	Longevity Aging Oxidative Stress	Strong
rs17697419	VEGFC	Intronic variant in the primary lymphangiogenesis growth factor gene; the min...	Heart & Inflammation	Cardiovascular Diabetes Inflammation	Moderate
rs4810485	CD40	Intronic variant in CD40 regulating B-cell surface expression; the G allele d...	Immune & Gut	Immune & Autoimmune Rheumatoid Arthritis Inflammation	Strong
rs1001179	CAT -262C>T	Catalase promoter variant affecting hydrogen peroxide clearance and antioxida...	Methylation & Detox	Detoxification Antioxidants Oxidative Stress	Strong
rs17697515	VEGFC	Intronic VEGFC variant independently associated with reduced diabetic retinop...	Heart & Inflammation	Cardiovascular Inflammation Diabetes	Moderate
rs2253310	FOXO3	Intronic FOXO3 longevity variant; C allele (minor in East Asians) associated ...	Longevity & Aging	Longevity Aging Oxidative Stress	Moderate
rs12212067	FOXO3	Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription fac...	Longevity & Aging	Longevity Aging Inflammation	Strong
rs6897932	IL7R T244I	A missense variant in the IL-7 receptor alpha chain that increases soluble IL...	Immune & Gut	Immune & Autoimmune Multiple Sclerosis T-Cell Regulation	Strong
rs12722489	IL2RA	Intronic variant in IL2RA intron 1 that creates an estrogen-responsive enhanc...	Immune & Gut	Immune & Gut Immune & Autoimmune Autoimmune	Strong
rs2300747	CD58	Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg...	Immune & Gut	Immune & Gut Autoimmune Neuroinflammation	Strong
rs9470080	FKBP5	Intronic FKBP5 variant in the stress-aging haplotype block — T allele carrier...	Longevity & Aging	Longevity Aging HPA Axis	Strong
rs1800693	TNFRSF1A	Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking ...	Immune & Gut	Immune & Autoimmune Inflammation Drug Metabolism	Strong
rs27524	ERAP1	Intronic ERAP1 variant that increases expression, raising psoriasis risk spec...	Immune & Gut	Immune System Autoimmune Inflammation	Strong
rs28929474	SERPINA1 Z allele (E342K)	Most common alpha-1 antitrypsin deficiency variant causing protein misfolding...	Vitamins & Micronutrients	Detoxification Lung Health Liver Disease	Established
rs1524107	IL6	Intronic IL6 variant tagging a low-producing haplotype — the T allele is prot...	Longevity & Aging	Inflammation Longevity Aging	Moderate
rs4406273	HLA-C	Near-HLA-C intergenic variant that tags HLA-C*06:02 haplotype, conferring ris...	Immune & Gut	Immune & Gut HLA Autoimmune	Strong
rs17147230	IL6	Near-gene upstream variant in IL6 associated with hepatocellular carcinoma ri...	Longevity & Aging	Inflammation Longevity Liver Health	Moderate
rs33980500	TRAF3IP2 D10N	Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b...	Immune & Gut	Immune System Autoimmune Inflammation	Strong
rs12188300	IL12B	Near-gene variant at the IL12B locus associated with psoriasis risk through a...	Immune & Gut	Immune & Gut Immune & Autoimmune Inflammation	Moderate
rs2536	MTOR	3'UTR variant that alters miR-150 binding affinity; the C allele increases mi...	Longevity & Aging	Longevity Aging Autophagy	Moderate
rs1270942	CFB	Intronic variant in Complement Factor B associated with strongly elevated sys...	Immune & Gut	Complement System Lupus Autoimmune	Strong
rs7574865	STAT4 Intron 3	Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response...	Immune & Gut	Immune & Gut Lupus Interferon	Strong
rs2779249	NOS2 Promoter -1026C/A	Functional promoter variant that increases iNOS transcriptional activity up t...	Longevity & Aging	Longevity Inflammaging Nitric Oxide	Moderate
rs5743708	TLR2 R753Q	Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Strong
rs12979860	IFNL4	Intronic variant in IFNL4 — the strongest host genetic predictor of hepatitis...	Immune & Gut	Innate Immunity Inflammation Infectious Disease	Established
rs11808092	EVI5	Missense variant in EVI5's coiled-coil domain altering immune cell traffickin...	Immune & Gut	Autoimmune Immune & Autoimmune Multiple Sclerosis	Strong
rs352140	TLR9	Synonymous variant in TLR9 that increases receptor expression, amplifying inn...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
rs729302	IRF5	Near-gene variant tagging an IRF5 protective haplotype in the 5' promoter reg...	Immune & Gut	Immune & Autoimmune Interferon Lupus	Strong
rs558269137	FLG 2282del4	Frameshift deletion eliminating filaggrin protein, the second most common Eur...	Immune & Gut	Skin Health Immune & Gut Inflammation	Established
rs4986791	TLR4 Thr399Ile	Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on...	Immune & Gut	Immune System Inflammation Autoimmune	Strong
rs1800871	IL10 -819 C>T	Promoter variant in the IL-10 haplotype system — regulates IL-10 anti-inflamm...	Immune & Gut	Inflammation Immune & Autoimmune Autoimmune	Strong
rs4149584	TNFRSF1A R92Q	Missense variant in TNF receptor 1 that causes low-penetrance TRAPS (recurren...	Immune & Gut	Immune & Autoimmune Inflammation Neuroinflammation	Strong
rs3775291	TLR3 Leu412Phe	Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antivir...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Strong
rs2201841	IL23R	Intronic variant in the IL-23 receptor gene associated with increased risk of...	Immune & Gut	Immune & Gut Autoimmune Inflammation	Strong
rs9332739	C2 E318D	Missense variant in complement component C2 forming a protective haplotype wi...	Immune & Gut	Eye Health Complement System Inflammation	Strong
rs3131379	MSH5	Intronic variant in the HLA class III region near MSH5 associated with lupus ...	Immune & Gut	Immune & Autoimmune Lupus Interferon	Strong
rs5743618	TLR1 I602S	Coding variant replacing isoleucine with serine at TLR1 position 602, disrupt...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Strong
rs8099917	IFNL3	Intergenic variant upstream of IFNL3 — second major IL28B locus predictor of ...	Immune & Gut	Innate Immunity Inflammation Infectious Disease	Established
rs26653	ERAP1	Missense variant (Arg127Pro) in ERAP1 that subtly alters ER peptide trimming ...	Immune & Gut	Immune System Autoimmune MHC Antigen Presentation	Strong
rs30187	ERAP1 K528R	Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosin...	Immune & Gut	Immune System Autoimmune Inflammation	Strong
rs3804099	TLR2	Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splic...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
rs1883832	CD40 Kozak -1C>T	Kozak sequence variant at position −1 of the CD40 start codon — the C allele ...	Immune & Gut	Immune & Autoimmune B-Cell Signaling Thyroid	Strong
rs13210247	TRAF3IP2	Intronic variant in the TRAF3IP2 locus that lies within the antisense lncRNA ...	Immune & Gut	Immune & Gut Autoimmune Inflammation	Strong
rs13190932	TRAF3IP2 R74W	Missense variant in the IL-17 adaptor Act1 (Arg74Trp) that is the primary GWA...	Immune & Gut	Immune & Gut Autoimmune Inflammation	Strong
rs10499194	TNFAIP3	Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protecti...	Immune & Gut	Autoimmune Inflammation Rheumatoid Arthritis	Strong
rs8177374	TIRAP Ser180Leu	Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate i...	Immune & Gut	Immune System Inflammation Infectious Disease	Strong
rs5743810	TLR6 Ser249Pro	Coding variant replacing serine with proline at TLR6 position 249, altering T...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
rs231775	CTLA4 Thr17Ala	Missense variant in the CTLA-4 leader peptide that reduces surface expression...	Immune & Gut	Immune & Autoimmune Autoimmune Thyroid	Strong
rs547154	C2 IVS10	Intronic C2 variant forming the H7 protective haplotype with CFB R32Q, reduci...	Immune & Gut	Eye Health Complement System Inflammation	Strong
rs3024491	IL10 Intronic variant	Intronic IL10 variant that reduces anti-inflammatory cytokine production, ind...	Immune & Gut	Inflammation Immune & Autoimmune Gut Health	Moderate
rs7517847	IL23R	Intronic IL23R variant in which the T allele increases susceptibility to Croh...	Immune & Gut	Immune & Gut Autoimmune IBD	Strong
rs1004819	IL23R	Intronic IL-23 receptor variant that increases susceptibility to ankylosing s...	Immune & Gut	Inflammation Autoimmune IBD	Strong
rs187084	TLR9 Promoter -1486T/C	Promoter variant that alters transcription factor binding and TLR9 expression...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
rs4728142	IRF5 Promoter Indel Tag (CGGGG insertion)	Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromati...	Immune & Gut	Immune & Autoimmune Interferon Lupus	Strong
rs12730935	FLG 3702delG	Frameshift deletion in the third filaggrin repeat domain — the third most com...	Immune & Gut	Skin Health Immune & Gut Inflammation	Established
rs372628716	FLG S3247X	Nonsense variant eliminating filaggrin protein — a minor European FLG null al...	Immune & Gut	Skin Health Immune & Gut Inflammation	Strong
rs4696480	TLR2 T-16934A	Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, asso...	Immune & Gut	Innate Immunity Skin Health Inflammation	Moderate