Tag
Immune Response
50 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 | Moderate | |
| rs10800309 | FCGR2A FCGR2A intronic variant | Intronic upstream variant in FCGR2A that modulates surface expression of the ... | B-Cell Immunity & Antibody-Mediated Disease | Moderate | |
| rs11264799 | FCRL3 | Upstream regulatory variant in FCRL3 with a strong eQTL effect on FCRL3 expre... | B-Cell Immunity & Antibody-Mediated Disease | Emerging | |
| rs1143634 | IL1B +3954C>T | Synonymous exon 5 variant in IL-1β that increases IL-1β protein secretion des... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs11079788 | TBX21 TBX21 Regulatory Variant | Intronic regulatory variant in TBX21 that influences T-bet expression and Th1... | Allergy & Atopic Disease | Emerging | |
| rs13900 | CCL2 CCL2 3'UTR variant | 3'UTR variant that increases CCL2 mRNA stability via enhanced HuR binding, el... | Vascular Inflammation & Remodeling | Moderate | |
| rs17881320 | STAT3 JAK-STAT3 Signaling Variant | Intronic STAT3 variant associated with increased atopic dermatitis risk (OR=1... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs1801274 | FCGR2A H131R | Missense variant in Fc gamma receptor IIa that substitutes histidine (H131, h... | B-Cell Immunity & Antibody-Mediated Disease | 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 | Moderate | |
| rs2234067 | ETV7 ETV7 rs2234067 | Upstream regulatory variant near ETV7, an interferon-inducible transcriptiona... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs2269475 | AIF1 AIF1 Arg69Trp | Missense variant in allograft inflammatory factor 1 (Iba1), a macrophage-expr... | B-Cell Immunity & Antibody-Mediated Disease | Moderate | |
| rs12123821 | FLG Filaggrin skin barrier variant | Common regulatory variant in the FLG locus associated with impaired skin barr... | Allergy & Atopic Disease | Strong | |
| rs12133641 | IL6R IL-6 receptor intronic variant | Deep intronic IL6R variant associated with atopic dermatitis risk and systemi... | Allergy & Atopic Disease | Strong | |
| rs1927911 | TLR4 | Intronic TLR4 variant in the innate immune receptor gene; the A allele associ... | Vascular Inflammation & Remodeling | Moderate | |
| rs2546890 | LOC285626 LOC285626 rs2546890 | Regulatory variant upstream of IL12B associated with increased risk of multip... | Psoriasis & Spondyloarthropathy | Strong | |
| rs34557412 | TNFRSF13B TACI C104R | Missense variant in the TACI receptor's cysteine-rich ligand-binding domain t... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs12141494 | CHI3L1 CHI3L1 Intron 6 Variant | Intronic variant in CHI3L1 (intron 6) independently associated with asthma se... | Allergy & Atopic Disease | Moderate | |
| 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 | Strong | |
| rs2233434 | NFKBIE | Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs2856836 | IL1A | 3' UTR variant in IL1A (interleukin-1 alpha) associated with endometriosis su... | Endometriosis & Uterine Health | Moderate | |
| rs12551256 | IL33 IL33 protective asthma variant | Intronic IL33 variant where the G allele is negatively associated with asthma... | Allergy & Atopic Disease | Emerging | |
| rs12551268 | IL33 IL33 asthma-protective variant | Intronic IL33 variant where A-allele carriers showed a protective trend again... | Allergy & Atopic Disease | Emerging | |
| rs3783550 | IL1A | Intronic variant within IL1A (Interleukin-1 alpha) associated with endometrio... | Endometriosis & Uterine Health | Moderate | |
| rs12946510 | IKZF3 IKZF3 17q21 FOXO1-enhancer variant | Regulatory variant in a FOXO1-binding enhancer element flanking the IKZF3 gen... | Allergy & Atopic Disease | Strong | |
| rs35947132 | PRF1 A91V | Common perforin variant that reduces cytolytic activity by ~50%, acting as a ... | Innate Immunity & Infection Defense | Strong | |
| rs1295686 | IL13 IL-13 Atopy Promoter Variant | Intronic variant in IL13 that tags the atopic risk haplotype; the minor T all... | Allergy & Atopic Disease | Strong | |
| rs41298997 | IKBKE | Intronic variant in IKBKE (IKK-epsilon) associated with psoriasis susceptibil... | Psoriasis & Spondyloarthropathy | Moderate | |
| rs4848306 | IL1B | IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the... | Endometriosis & Uterine Health | Emerging | |
| rs72553883 | TNFRSF13B A181E | Transmembrane domain missense variant in TACI that abolishes NF-κB signaling,... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs7770370 | HLA-DPB1 | Intronic tag SNP in HLA-DPB1 (and upstream of HLA-DPA1); the G allele is stro... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs6542095 | IL1A IL1A rs6542095 | Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with m... | Endometriosis & Uterine Health | 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 | Strong | |
| rs1805010 | IL4R Ile75Val | Missense variant in the extracellular domain of the IL-4 receptor alpha chain... | Allergy & Atopic Disease | Moderate | |
| rs1805011 | IL4R IL4R Glu375Ala | Missense variant in the extracellular domain of the IL-4 receptor alpha chain... | Allergy & Atopic Disease | Moderate | |
| 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 | Moderate | |
| rs2070874 | IL4 IL4 C-33T | 5'-UTR variant 33 bases downstream of the IL-4 transcription start site; the ... | Allergy & Atopic Disease | Strong | |
| rs2158177 | TH2LCRR RAD50/IL13 Region Variant | Intronic variant in TH2LCRR, a long noncoding RNA residing in the 5q31.1 RAD5... | Allergy & Atopic Disease | Moderate | |
| rs2228145 | IL6R Asp358Ala | Missense variant in the IL-6 receptor that increases receptor shedding; the C... | Allergy & Atopic Disease | Strong | |
| rs2243250 | IL4 IL4 -589C>T | Promoter polymorphism 589 bases upstream of the IL-4 transcription start site... | Allergy & Atopic Disease | 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 | 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 | Moderate | |
| rs2297839 | CHI3L1 CHI3L1 Intron Variant | Intronic variant in CHI3L1 associated with circulating YKL-40 levels and modu... | Allergy & Atopic Disease | Emerging | |
| rs4129267 | IL6R IL6R intronic multi-trait variant | Intronic IL6R variant in perfect linkage disequilibrium with the functional A... | Allergy & Atopic Disease | 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 | 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 | Strong | |
| rs7192 | HLA-DRA HLA-DRA Leu242Val | Missense variant (Leu242Val) in the HLA-DRA alpha chain; the T allele tags HL... | Allergy & Atopic Disease | Strong | |
| rs7216389 | GSDMB ORMDL3 17q21 asthma risk | Intronic GSDMB variant that acts as an eQTL for ORMDL3; the T allele elevates... | Allergy & Atopic Disease | Established | |
| rs7927997 | EMSY EMSY/C11orf30 Atopy Regulatory Variant | Regulatory variant near C11orf30 (EMSY) on chromosome 11q13.5 | Allergy & Atopic Disease | 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 | 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 | Strong |