Tag

Immune Response

72 genetic variants with this tag.

RSID	Gene	Description	Category
rs1024611	CCL2 A-2518G	Promoter variant that increases CCL2 (MCP-1) transcription, amplifying monocy...	Vascular Inflammation & Remodeling	Immune Response	Moderate
rs1537415	GLT6D1	Intronic variant in GLT6D1 reducing GATA-3 transcription factor binding in T ...	Dental & Oral Health	Immune Response	Strong
rs10800309	FCGR2A FCGR2A intronic variant	Intronic upstream variant in FCGR2A that modulates surface expression of the ...	B-Cell Immunity & Antibody-Mediated Disease	Immune Response	Moderate
rs1143627	IL1B -31T>C	Promoter variant that elevates IL-1β transcription, increasing risk of H. pyl...	TNF, NF-kB & Inflammatory Cytokines	Immune Response	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 Response	Emerging
rs11264799	FCRL3	Upstream regulatory variant in FCRL3 with a strong eQTL effect on FCRL3 expre...	B-Cell Immunity & Antibody-Mediated Disease	Immune Response	Emerging
rs1143634	IL1B +3954C>T	Synonymous exon 5 variant in IL-1β that increases IL-1β protein secretion des...	TNF, NF-kB & Inflammatory Cytokines	Immune Response	Strong
rs11079788	TBX21 TBX21 Regulatory Variant	Intronic regulatory variant in TBX21 that influences T-bet expression and Th1...	Allergy & Atopic Disease	Immune Response	Emerging
rs17881320	STAT3 JAK-STAT3 Signaling Variant	Intronic STAT3 variant associated with increased atopic dermatitis risk (OR=1...	TNF, NF-kB & Inflammatory Cytokines	Immune Response	Strong
rs1801274	FCGR2A H131R	Missense variant in Fc gamma receptor IIa that substitutes histidine (H131, h...	B-Cell Immunity & Antibody-Mediated Disease	Immune Response	Strong
rs2043211	CARD8 C10X	Truncating variant in the NLRP3 inflammasome brake that abolishes CARD8's cas...	TNF, NF-kB & Inflammatory Cytokines	Immune Response	Moderate
rs2269475	AIF1 AIF1 Arg69Trp	Missense variant in allograft inflammatory factor 1 (Iba1), a macrophage-expr...	B-Cell Immunity & Antibody-Mediated Disease	Immune Response	Moderate
rs13900	CCL2 CCL2 3'UTR variant	3'UTR variant that increases CCL2 mRNA stability via enhanced HuR binding, el...	Vascular Inflammation & Remodeling	Immune Response	Moderate
rs2234067	ETV7 ETV7 rs2234067	Upstream regulatory variant near ETV7, an interferon-inducible transcriptiona...	Interferon Signaling & Systemic Autoimmune	Immune Response	Strong
rs11650680	ORMDL3 ORMDL3 17q21 asthma susceptibility	Intronic regulatory variant in the ORMDL3 17q21 haploblock; the C allele driv...	Allergy & Atopic Disease	Immune Response	Strong
rs16944	IL1B -511C>T	Promoter variant affecting IL-1 beta production, influencing inflammatory res...	Vascular Inflammation & Remodeling	Immune Response	Strong
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 Response	Moderate
rs34557412	TNFRSF13B TACI C104R	Missense variant in the TACI receptor's cysteine-rich ligand-binding domain t...	B-Cell Immunity & Antibody-Mediated Disease	Immune Response	Strong
rs12123821	FLG Filaggrin skin barrier variant	Common regulatory variant in the FLG locus associated with impaired skin barr...	Allergy & Atopic Disease	Immune Response	Strong
rs2233434	NFKBIE	Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB...	TNF, NF-kB & Inflammatory Cytokines	Immune Response	Strong
rs2546890	LOC285626 LOC285626 rs2546890	Regulatory variant upstream of IL12B associated with increased risk of multip...	Psoriasis & Spondyloarthropathy	Immune Response	Strong
rs12133641	IL6R IL-6 receptor intronic variant	Deep intronic IL6R variant associated with atopic dermatitis risk and systemi...	Allergy & Atopic Disease	Immune Response	Strong
rs28362491	NFKB1 -94ins/delATTG	Promoter insertion/deletion polymorphism reducing NF-κB p50 transcription and...	Innate Immunity & Infection Defense	Immune Response	Strong
rs3077	HLA-DPA1 HLA-DPA1 3′ UTR variant	Regulatory variant in the 3′ UTR of HLA-DPA1 that controls surface expression...	Interferon Signaling & Systemic Autoimmune	Immune Response	Strong
rs12141494	CHI3L1 CHI3L1 Intron 6 Variant	Intronic variant in CHI3L1 (intron 6) independently associated with asthma se...	Allergy & Atopic Disease	Immune Response	Moderate
rs403016	FCGR3A	Rare missense variant in Fc gamma receptor IIIa (CD16a) causing an Arg36Ser s...	B-Cell Immunity & Antibody-Mediated Disease	Immune Response	Emerging
rs1800471	TGFB1 R25P (Arg25Pro)	Signal-peptide missense variant altering TGF-β1 secretion levels, associated ...	Vascular Inflammation & Remodeling	Immune Response	Moderate
rs2856836	IL1A	3' UTR variant in IL1A (interleukin-1 alpha) associated with endometriosis su...	Endometriosis & Uterine Health	Immune Response	Moderate
rs12551256	IL33 IL33 protective asthma variant	Intronic IL33 variant where the G allele is negatively associated with asthma...	Allergy & Atopic Disease	Immune Response	Emerging
rs12551268	IL33 IL33 asthma-protective variant	Intronic IL33 variant where A-allele carriers showed a protective trend again...	Allergy & Atopic Disease	Immune Response	Emerging
rs35947132	PRF1 A91V	Common perforin variant that reduces cytolytic activity by ~50%, acting as a ...	Innate Immunity & Infection Defense	Immune Response	Strong
rs3783550	IL1A	Intronic variant within IL1A (Interleukin-1 alpha) associated with endometrio...	Endometriosis & Uterine Health	Immune Response	Moderate
rs511278	FCGR2A	Intronic FCGR2A variant in linkage disequilibrium with the H131R functional p...	B-Cell Immunity & Antibody-Mediated Disease	Immune Response	Moderate
rs12946510	IKZF3 IKZF3 17q21 FOXO1-enhancer variant	Regulatory variant in a FOXO1-binding enhancer element flanking the IKZF3 gen...	Allergy & Atopic Disease	Immune Response	Strong
rs1927911	TLR4	Intronic TLR4 variant in the innate immune receptor gene; the A allele associ...	Vascular Inflammation & Remodeling	Immune Response	Moderate
rs41298997	IKBKE	Intronic variant in IKBKE (IKK-epsilon) associated with psoriasis susceptibil...	Psoriasis & Spondyloarthropathy	Immune Response	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	Immune Response	Strong
rs4848306	IL1B	IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the...	Endometriosis & Uterine Health	Immune Response	Emerging
rs13408661	IL1RL1	Intronic variant in IL1RL1 (encoding the ST2 receptor for IL-33) tagging hapl...	Allergy & Atopic Disease	Immune Response	Moderate
rs7770370	HLA-DPB1	Intronic tag SNP in HLA-DPB1 (and upstream of HLA-DPA1) that marks the HLA-DP...	Interferon Signaling & Systemic Autoimmune	Immune Response	Strong
rs6542095	IL1A IL1A rs6542095	Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with m...	Endometriosis & Uterine Health	Immune Response	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	Immune Response	Moderate
rs146597587	IL33	Rare splice acceptor variant that abolishes IL-33/ST2 signalling; the C allel...	Allergy & Atopic Disease	Immune Response	Strong
rs17250932	TBX21 TBX21 Promoter Variant	Upstream promoter variant in TBX21 that reduces neonatal IL-5 and IL-13 secre...	Allergy & Atopic Disease	Immune Response	Emerging
rs4073	IL8 -251A>T	Promoter variant affecting interleukin-8 transcription and inflammatory burden	Vascular Inflammation & Remodeling	Immune Response	Strong
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	Immune Response	Strong
rs9807989	IL18R1	Upstream regulatory variant of IL18R1 on chromosome 2q12; the T risk allele i...	TNF, NF-kB & Inflammatory Cytokines	Immune Response	Moderate
rs17699436	TBX21 TBX21 Downstream Regulatory Variant	Intergenic variant 5 kb downstream of TBX21 (encoding the T-bet transcription...	Allergy & Atopic Disease	Immune Response	Moderate
rs1805010	IL4R Ile75Val	Missense variant in the extracellular domain of the IL-4 receptor alpha chain...	Allergy & Atopic Disease	Immune Response	Moderate
rs1805011	IL4R IL4R Glu375Ala	Missense variant in the extracellular domain of the IL-4 receptor alpha chain...	Allergy & Atopic Disease	Immune Response	Moderate
rs7091565	ANXA11 ANXA11 rs7091565	3' UTR variant in ANXA11 (annexin A11) in strong LD with the functional R230C...	Innate Immunity & Infection Defense	Immune Response	Moderate
rs72553883	TNFRSF13B TACI A181E	Missense variant in the TACI transmembrane domain that disrupts receptor clus...	Innate Immunity & Infection Defense	Immune Response	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	Immune Response	Moderate
rs2069705	IFNG IFNG Promoter -1616C/T	Upstream regulatory variant ~1,616 bp before the IFNG transcription start sit...	Allergy & Atopic Disease	Immune Response	Moderate
rs2070874	IL4 IL4 C-33T	5'-UTR variant 33 bases downstream of the IL-4 transcription start site; the ...	Allergy & Atopic Disease	Immune Response	Strong
rs2158177	TH2LCRR RAD50/IL13 Region Variant	Intronic variant in TH2LCRR, a long noncoding RNA residing in the 5q31.1 RAD5...	Allergy & Atopic Disease	Immune Response	Moderate
rs2228145	IL6R Asp358Ala	Missense variant in the IL-6 receptor that increases receptor shedding and en...	Allergy & Atopic Disease	Immune Response	Strong
rs2243250	IL4 IL4 -589C>T	Promoter polymorphism 589 bases upstream of the IL-4 transcription start site...	Allergy & Atopic Disease	Immune Response	Strong
rs2243290	IL4 IL4 Intron 3 Protective Haplotype Variant	Intronic IL4 variant that forms part of the protective C-G-C haplotype (rs224...	Allergy & Atopic Disease	Immune Response	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	Immune Response	Moderate
rs2297839	CHI3L1 CHI3L1 Intron Variant	Intronic variant in CHI3L1 associated with circulating YKL-40 levels and modu...	Allergy & Atopic Disease	Immune Response	Emerging
rs4129267	IL6R IL6R intronic multi-trait variant	Intronic IL6R variant in perfect linkage disequilibrium with the functional A...	Allergy & Atopic Disease	Immune Response	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	Immune Response	Moderate
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	Immune Response	Strong
rs7192	HLA-DRA HLA-DRA Leu242Val	Missense variant (Leu242Val) in the HLA-DRA alpha chain; the T allele tags HL...	Allergy & Atopic Disease	Immune Response	Strong
rs7216389	GSDMB ORMDL3 17q21 asthma risk	Intronic GSDMB variant that acts as an eQTL for ORMDL3; the T allele elevates...	Allergy & Atopic Disease	Immune Response	Established
rs72823628	IL1RL1	Intronic variant in the IL1RL1/IL18R1 receptor gene cluster on chromosome 2q1...	Allergy & Atopic Disease	Immune Response	Moderate
rs7927997	EMSY EMSY/C11orf30 Atopy Regulatory Variant	Regulatory variant near C11orf30 (EMSY) on chromosome 11q13.5; the T allele r...	Allergy & Atopic Disease	Immune Response	Strong
rs8832	IL4R IL4R 3'UTR Asthma Exacerbation Variant	3' untranslated region variant in the IL-4 receptor alpha chain gene; the G a...	Allergy & Atopic Disease	Immune Response	Moderate
rs9275596	HLA-DQ HLA-DQ Region Peanut Allergy Locus	Intergenic tag SNP between HLA-DQB1 and HLA-DQA2 tagging the HLA-DQA1*01:02 r...	Allergy & Atopic Disease	Immune Response	Strong
rs950881	IL1RL1 IL1RL1 intronic variant	Intronic variant in the IL1RL1 gene on chromosome 2q12 encoding the ST2 recep...	Allergy & Atopic Disease	Immune Response	Moderate
rs992969	IL33	Regulatory variant upstream of IL33 encoding interleukin-33; the A allele inc...	Allergy & Atopic Disease	Immune Response	Strong