Tag

Immune Function

61 genetic variants with this tag.

RSID	Gene	Description	Category
rs10745742	AMDHD1	Intronic variant in the histidine-catabolism gene AMDHD1 that influences circ...	Metabolic Enzymes & Rare Disorders	Immune Function	Strong
rs10766197	CYP2R1	Reduces CYP2R1 promoter activity and hepatic 25-hydroxylase expression, lower...	Vitamin D Metabolism	Immune Function	Strong
rs11277	SLC30A1 ZnT1 variant	3'UTR regulatory variant in the primary intestinal zinc efflux transporter, w...	Iron & Mineral Transport	Immune Function	Emerging
rs1041981	LTA Thr26Asn (TNFB*2)	Missense variant in lymphotoxin-alpha, a TNF superfamily cytokine essential f...	Innate Immunity & Infection Defense	Immune Function	Moderate
rs1050152	SLC22A4 OCTN1 L503F	Missense variant in SLC22A4 encoding the organic cation/ergothioneine transpo...	Allergy & Atopic Disease	Immune Function	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	Immune Function	Emerging
rs10849448	LTBR	Regulatory variant in the lymphotoxin beta receptor gene associated with incr...	Innate Immunity & Infection Defense	Immune Function	Strong
rs11071559	RORA	Intronic variant in the circadian clock regulator RORA; the T allele is prote...	Allergy & Atopic Disease	Immune Function	Moderate
rs2060793	CYP2R1	Upstream regulatory variant in CYP2R1 that reduces hepatic 25-hydroxylase exp...	Vitamin D Metabolism	Immune Function	Strong
rs11052552	CLECL1	Intronic variant in CLECL1, a dendritic-cell costimulatory C-type lectin, ass...	Appetite & Obesity	Immune Function	Moderate
rs12734494	SLC30A1	Intergenic variant near SLC30A1 (ZnT1), the primary basolateral zinc exporter...	Vitamins & Nutrient Absorption	Immune Function	Emerging
rs11236797	LRRC32	Regulatory variant in a distal enhancer at 11q13.5 that controls GARP express...	Allergy & Atopic Disease	Immune Function	Strong
rs1861494	IFNG IFNG Interferon Gamma	Intronic IFNG variant that modulates interferon-gamma expression, with the T ...	Interferon Signaling & Systemic Autoimmune	Immune Function	Moderate
rs12144344	ST6GALNAC3	Intronic variant in sialyltransferase ST6GALNAC3 associated with higher circu...	Metabolic Enzymes & Rare Disorders	Immune Function	Emerging
rs1532423	CA1	Intronic variant in the carbonic anhydrase 1 gene cluster on chromosome 8 ass...	Uric Acid & Kidney Function	Immune Function	Moderate
rs201408742	GPR174	X-linked intergenic variant near GPR174 (G protein-coupled receptor 174), a l...	TNF, NF-kB & Inflammatory Cytokines	Immune Function	Emerging
rs2296241	CYP24A1	Synonymous coding variant in CYP24A1 (vitamin D 24-hydroxylase) that tags fun...	Vitamin D Metabolism	Immune Function	Moderate
rs17166496	FSTL4 FSTL4 rs17166496	Intronic variant in FSTL4 (Follistatin-Like 4) on chromosome 5q31; heterozygo...	Appetite & Obesity	Immune Function	Emerging
rs11650354	TBX21 TBX21 Region Variant	Intronic variant in TBX21 that forms a risk haplotype with rs16947078; the T ...	Allergy & Atopic Disease	Immune Function	Strong
rs1343151	IL23R	Intronic IL23R variant whose minor A allele tags the protective haplotype for...	IBD & Mucosal Immunity	Immune Function	Moderate
rs2278651	SLC30A1 ZnT1 variant	Intronic variant in SLC30A1 (ZnT1), the primary plasma-membrane zinc efflux t...	Iron & Mineral Transport	Immune Function	Emerging
rs4752	GC GC rs4752	Synonymous variant in vitamin D binding protein that tags distinct GC haploty...	Vitamin D Metabolism	Immune Function	Moderate
rs11657479	TBX21 TBX21 3' UTR Variant	A 3' UTR variant in TBX21 (c.*169T>C) that modulates T-bet expression; the C ...	Allergy & Atopic Disease	Immune Function	Moderate
rs2364480	LTBR	Synonymous coding variant in the lymphotoxin-beta receptor gene associated wi...	Psoriasis & Spondyloarthropathy	Immune Function	Moderate
rs2120019	PPCDC	Intronic variant in PPCDC associated with lower circulating serum zinc levels...	Vitamins & Nutrient Absorption	Immune Function	Moderate
rs3024505	IL10 3' downstream variant	Downstream IL10 enhancer variant that disrupts a STAT3 binding site, reducing...	Interferon Signaling & Systemic Autoimmune	Immune Function	Strong
rs12094543	ZMYM4 ZMYM4 rs12094543	Intronic variant in ZMYM4, a chromatin-remodeling transcription factor whose ...	Fat Storage & Energy	Immune Function	Emerging
rs2234663	IL1RN	Intron 2 VNTR polymorphism in IL1RN that alters IL-1Ra isoform balance and is...	TNF, NF-kB & Inflammatory Cytokines	Immune Function	Strong
rs2066845	NOD2 G908R	NOD2 bacterial sensor variant that increases Crohn's disease risk by impairin...	IBD & Mucosal Immunity	Immune Function	Established
rs7936142	CYP2R1 CYP2R1 rs7936142	Intronic variant in the primary hepatic vitamin D 25-hydroxylase gene associa...	Vitamin D Metabolism	Immune Function	Moderate
rs12251307	IL2RA IL-2 receptor alpha chain variant	Intergenic variant 19 kb downstream of IL2RA associated with atopic dermatiti...	Allergy & Atopic Disease	Immune Function	Strong
rs1799987	CCR5 CCR5 Promoter -2459A>G	Regulatory variant in the CCR5 promoter that reduces CCR5 expression by ~45%;...	Vascular Inflammation & Remodeling	Immune Function	Moderate
rs2297440	RTEL1 RTEL1 telomere maintenance variant	Intronic variant in RTEL1 (Regulator of Telomere Elongation Helicase 1) on ch...	TNF, NF-kB & Inflammatory Cytokines	Immune Function	Moderate
rs12459419	CD33 CD33 exon 2 splicing variant	Coding variant in CD33 (Siglec-3) that alters exon 2 splicing in microglia — ...	Neurology & Cognition	Immune Function	Strong
rs2501401	CNR2	Intronic eQTL in CNR2 (cannabinoid receptor 2) that modulates receptor expres...	TNF, NF-kB & Inflammatory Cytokines	Immune Function	Emerging
rs2501431	CNR2 CNR2 rs2501431	Synonymous coding variant in the cannabinoid receptor 2 gene that tags a hapl...	TNF, NF-kB & Inflammatory Cytokines	Immune Function	Moderate
rs2241880	ATG16L1 T300A	Autophagy gene variant affecting bacterial clearance in gut epithelial cells,...	IBD & Mucosal Immunity	Immune Function	Established
rs3758524	LTBR LTBR regulatory variant	Intronic regulatory variant near the lymphotoxin beta receptor gene influenci...	Innate Immunity & Infection Defense	Immune Function	Emerging
rs13408661	IL1RL1	Intronic variant in IL1RL1 (encoding the ST2 receptor for IL-33) tagging hapl...	Allergy & Atopic Disease	Immune Function	Moderate
rs3790565	IL12RB2	Intronic IL12RB2 variant associated with IL-12 signaling pathway variation an...	IBD & Mucosal Immunity	Immune Function	Moderate
rs72553883	TNFRSF13B A181E	Transmembrane domain missense variant in TACI that abolishes NF-κB signaling,...	B-Cell Immunity & Antibody-Mediated Disease	Immune Function	Strong
rs1718119	P2RX7 Ala348Thr	Gain-of-function variant in the P2X7 receptor that increases ATP-gated pore f...	Neurology & Cognition	Immune Function	Moderate
rs7951	C3	Synonymous C3 variant associated with reduced serum complement C3 levels and ...	B-Cell Immunity & Antibody-Mediated Disease	Immune Function	Moderate
rs146597587	IL33	Rare splice acceptor variant that abolishes IL-33/ST2 signalling; the C allel...	Allergy & Atopic Disease	Immune Function	Strong
rs725613	CLEC16A	Intronic variant in the autophagy regulator CLEC16A that alters thymic T-cell...	Autoimmune Tolerance & T-Cell Regulation	Immune Function	Strong
rs16947078	TBX21 TBX21 T-bet asthma variant	Intergenic regulatory variant near TBX21 associated with allergic asthma susc...	Allergy & Atopic Disease	Immune Function	Strong
rs17699436	TBX21 TBX21 Downstream Regulatory Variant	Intergenic variant 5 kb downstream of TBX21 (encoding the T-bet transcription...	Allergy & Atopic Disease	Immune Function	Moderate
rs6974491	ELMO1	Intronic ELMO1 variant acting as an eQTL that modulates engulfment and cell m...	IBD & Mucosal Immunity	Immune Function	Moderate
rs208294	P2RX7 His155Tyr	Gain-of-function missense variant in the P2X7 ATP-gated receptor that increas...	Neurology & Cognition	Immune Function	Moderate
rs1898671	TSLP TSLP Intronic Variant (Atopic Dermatitis)	Intronic TSLP variant that modulates thymic stromal lymphopoietin activity, w...	Allergy & Atopic Disease	Immune Function	Moderate
rs34903499	VIP	Synonymous coding variant in the VIP gene (Asn133Asn); the T allele may alter...	Hormones & Sleep	Immune Function	Emerging
rs2227284	IL4 IL4 T+2979G	Intronic regulatory variant in IL-4, the master Th2 cytokine; the T allele im...	Allergy & Atopic Disease	Immune Function	Moderate
rs3751143	P2RX7 Glu496Ala	Loss-of-function variant in the P2X7 receptor that reduces inflammatory respo...	Neurology & Cognition	Immune Function	Strong
rs4684059	HRH1	Intronic variant in the histamine H1 receptor gene associated with altered re...	Methylation & Detox	Immune Function	Emerging
rs3865444	CD33 CD33 microglial Alzheimer's variant	Promoter-region variant that modulates CD33 expression on microglia — the pro...	Neurology & Cognition	Immune Function	Strong
rs2967677	CERS4 Ceramide synthase 4 locus variant	A 3'UTR variant in the CERS4/NFILZ locus on chromosome 19 associated with ato...	Allergy & Atopic Disease	Immune Function	Strong
rs78534766	ADCY7 ADCY7 D439E	Low-frequency missense variant in adenylyl cyclase 7 that reduces cAMP synthe...	Hormones & Sleep	Immune Function	Strong
rs72823628	IL1RL1	Intronic variant in the IL1RL1/IL18R1 receptor gene cluster on chromosome 2q1...	Allergy & Atopic Disease	Immune Function	Moderate
rs8111930	MRPL4 MRPL4 Atopy-Associated Intronic Variant	Intronic variant in MRPL4 on chromosome 19p13.2 that alters transcription fac...	Allergy & Atopic Disease	Immune Function	Moderate
rs950881	IL1RL1 IL1RL1 intronic variant	Intronic variant in the IL1RL1 gene on chromosome 2q12 encoding the ST2 recep...	Allergy & Atopic Disease	Immune Function	Moderate
rs7958311	P2RX7 Arg270His	P2RX7 variant with a unique dual mechanism — gain-of-function in channel open...	Neurology & Cognition	Immune Function	Moderate