Research
Tag

Interferon

33 genetic variants with this tag.

RSID Gene Description Category
rs10181656 STAT4 Intronic STAT4 tagging SNP on the primary SLE risk haplotype; the sentinel va... Interferon Signaling & Systemic Autoimmune Strong
rs10488631 IRF5 Near-gene regulatory variant tagging an IRF5 haplotype that elevates interfer... Interferon Signaling & Systemic Autoimmune Strong
rs10794648 IFNLR1/GRHL3 Intergenic regulatory variant near IFNLR1 that contacts GRHL3 via chromatin l... Interferon Signaling & Systemic Autoimmune Moderate
rs10954213 IRF5 3'UTR polyadenylation 3'UTR variant creating a functional polyadenylation site; A allele produces a... Interferon Signaling & Systemic Autoimmune Strong
rs11269962 IRF5 Regulatory A 14-bp indel 2.2 kb upstream of IRF5 that is the most strongly associated ci... Interferon Signaling & Systemic Autoimmune Moderate
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 Moderate
rs12720356 TYK2 Ile684Ser A missense variant in the TYK2 pseudokinase (JH2) domain that partially impai... Autoimmune Tolerance & T-Cell Regulation Strong
rs13245639 IRF5 Regulatory Cis-regulatory IRF5 variant in near-perfect LD (r²=0.97) with the rs729302 pr... Interferon Signaling & Systemic Autoimmune Moderate
rs12252 IFITM3 IFITM3 rs12252 (c.42T>C) Splice-region synonymous variant in the innate antiviral gene IFITM3; the G a... Innate Immunity & Infection Defense Strong
rs1861494 IFNG IFNG Interferon Gamma Intronic IFNG variant that modulates interferon-gamma expression, with the T ... Interferon Signaling & Systemic Autoimmune Moderate
rs1539243 IKBKE IKBKE Ile67 synonymous variant Synonymous coding variant in exon 4 of IKBKE (IKK-epsilon); the C allele tags... Psoriasis & Spondyloarthropathy Moderate
rs1990760 IFIH1 Ala946Thr Gain-of-function missense variant in the MDA5 viral RNA sensor, enhancing typ... Interferon Signaling & Systemic Autoimmune Strong
rs2004640 IRF5 G198T Intronic variant creating alternative splice site that increases type I inter... Interferon Signaling & Systemic Autoimmune Strong
rs117648444 IFNL4 Pro70Ser (P70S) Missense variant in IFNL4 exon 2 that reduces IFN-λ4 protein activity; the Se... Pharmacogenomics Strong
rs2234067 ETV7 ETV7 rs2234067 Upstream regulatory variant near ETV7, an interferon-inducible transcriptiona... Interferon Signaling & Systemic Autoimmune Strong
rs2280714 IRF5 3'UTR Downstream regulatory variant in the IRF5 3' region that elevates IRF5 mRNA e... Interferon Signaling & Systemic Autoimmune Moderate
rs12979860 IFNL4 Intronic variant in IFNL4 — the strongest host genetic predictor of hepatitis... Pharmacogenomics Established
rs2304256 TYK2 TYK2 V362F A common missense and splicing variant in TYK2 that promotes exon 8 inclusion... Autoimmune Tolerance & T-Cell Regulation Strong
rs12980275 IFNL3 Downstream variant near IFNL3 — third IL28B locus predictor of hepatitis C sp... Pharmacogenomics Established
rs3131379 MSH5 Intronic variant in the HLA class III region near MSH5 associated with lupus ... Interferon Signaling & Systemic Autoimmune Strong
rs4728142 IRF5 Promoter Indel Tag (CGGGG insertion) Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromati... Interferon Signaling & Systemic Autoimmune Strong
rs729302 IRF5 Near-gene variant tagging an IRF5 protective haplotype in the 5' promoter reg... Interferon Signaling & Systemic Autoimmune Strong
rs41298997 IKBKE Intronic variant in IKBKE (IKK-epsilon) associated with psoriasis susceptibil... Psoriasis & Spondyloarthropathy Moderate
rs35018800 TYK2 TYK2 Ala928Val A rare missense variant in the TYK2 pseudokinase (JH2) domain that partially ... Autoimmune Tolerance & T-Cell Regulation Strong
rs7574865 STAT4 Intron 3 Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response... Interferon Signaling & Systemic Autoimmune Strong
rs9378815 IRF4 Regulatory variant ~15 kb upstream of IRF4 that modulates germinal center B c... Interferon Signaling & Systemic Autoimmune Strong
rs7540214 IFNLR1 IFNLR1 variant Intronic variant in the interferon lambda receptor 1 gene that elevates PsA r... Psoriasis & Spondyloarthropathy Moderate
rs7047299 IFNA21 Regulatory variant upstream of interferon alpha-21 associated with increased ... Innate Immunity & Infection Defense Moderate
rs34536443 TYK2 TYK2 p.Pro1104Ala A missense variant in TYK2 that partially impairs JAK-family signaling downst... Hormones & Sleep Strong
rs2069705 IFNG IFNG Promoter -1616C/T Upstream regulatory variant ~1,616 bp before the IFNG transcription start sit... Allergy & Atopic Disease Moderate
rs368234815 IFNL4 ss469415590 (TT/ΔG) Causal frameshift polymorphism controlling IFNL4 protein production; the ΔG a... Pharmacogenomics Established
rs4803217 IFNL3 3'UTR 3' untranslated region variant in IFNL3 (IL28B) that controls mRNA stability ... Pharmacogenomics Strong
rs8099917 IFNL3 Intergenic variant upstream of IFNL3 — second major IL28B locus predictor of ... Pharmacogenomics Established