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