Tag

Infection Risk

30 genetic variants with this tag.

RSID	Gene	Description	Category
rs1017861	CHD7 CHD7 AIS susceptibility locus	Intronic variant in CHD7, a chromatin remodeler critical for neural crest cel...	Innate Immunity & Infection Defense	Infection Risk	Moderate
rs1024611	CCL2 A-2518G	Promoter variant that increases CCL2 (MCP-1) transcription, amplifying monocy...	Vascular Inflammation & Remodeling	Infection Risk	Moderate
rs1041981	LTA Thr26Asn (TNFB*2)	Missense variant in lymphotoxin-alpha, a TNF superfamily cytokine essential f...	Innate Immunity & Infection Defense	Infection Risk	Moderate
rs10759931	TLR4 -2604G>A	Promoter variant in Toll-like receptor 4 that drives higher TLR4 expression a...	Innate Immunity & Infection Defense	Infection Risk	Moderate
rs10849448	LTBR	Regulatory variant in the lymphotoxin beta receptor gene associated with incr...	Innate Immunity & Infection Defense	Infection Risk	Strong
rs114947103	CDHR3 CDHR3 intronic variant	Intronic CDHR3 variant in high linkage disequilibrium with the C529Y function...	Innate Immunity & Infection Defense	Infection Risk	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	Infection Risk	Strong
rs146906133	FRMD5 FRMD5 UTI susceptibility variant	Intronic variant in FRMD5 — a cell-adhesion scaffolding gene — where the rare...	Innate Immunity & Infection Defense	Infection Risk	Emerging
rs1861494	IFNG IFNG Interferon Gamma	Intronic IFNG variant that modulates interferon-gamma expression, with the T ...	Interferon Signaling & Systemic Autoimmune	Infection Risk	Moderate
rs13361189	IRGM −4299T>C	Autophagy regulator affecting bacterial clearance in the gut and Crohn's dise...	IBD & Mucosal Immunity	Infection Risk	Strong
rs1978060	TBX1	Intronic variant in TBX1 acting as a cis-eQTL that reduces TBX1 expression an...	Innate Immunity & Infection Defense	Infection Risk	Moderate
rs230523	NFKB1	Intronic variant in the master immune transcription factor NF-κB1, associated...	Innate Immunity & Infection Defense	Infection Risk	Strong
rs34557412	TNFRSF13B TACI C104R	Missense variant in the TACI receptor's cysteine-rich ligand-binding domain t...	B-Cell Immunity & Antibody-Mediated Disease	Infection Risk	Strong
rs1800972	DEFB1 DEFB1 -44C>G	Promoter variant in the beta-defensin 1 gene that reduces constitutive hBD-1 ...	IBD & Mucosal Immunity	Infection Risk	Moderate
rs2976388	PSCA PSCA bladder urothelial variant	Intronic PSCA variant that tags a regulatory region active in bladder urothel...	Innate Immunity & Infection Defense	Infection Risk	Strong
rs1799987	CCR5 CCR5 Promoter -2459A>G	Regulatory variant in the CCR5 promoter that reduces CCR5 expression by ~45%;...	Vascular Inflammation & Remodeling	Infection Risk	Moderate
rs35947132	PRF1 A91V	Common perforin variant that reduces cytolytic activity by ~50%, acting as a ...	Innate Immunity & Infection Defense	Infection Risk	Strong
rs3758524	LTBR LTBR regulatory variant	Intronic regulatory variant near the lymphotoxin beta receptor gene influenci...	Innate Immunity & Infection Defense	Infection Risk	Emerging
rs511278	FCGR2A	Intronic FCGR2A variant in linkage disequilibrium with the H131R functional p...	B-Cell Immunity & Antibody-Mediated Disease	Infection Risk	Moderate
rs3764880	TLR8 A1G	X-linked initiator codon variant in TLR8 that fine-tunes the ratio of two TLR...	Innate Immunity & Infection Defense	Infection Risk	Strong
rs72553883	TNFRSF13B A181E	Transmembrane domain missense variant in TACI that abolishes NF-κB signaling,...	B-Cell Immunity & Antibody-Mediated Disease	Infection Risk	Strong
rs9277535	HLA-DPB1	3' UTR eQTL that reduces HLA-DPB1 expression, impairing antigen presentation ...	Interferon Signaling & Systemic Autoimmune	Infection Risk	Strong
rs4077515	CARD9 S12N	Gain-of-function missense variant in the CARD9 adaptor protein that enhances ...	IBD & Mucosal Immunity	Infection Risk	Strong
rs4252130	PLG PLG promoter/intronic variant	Intronic PLG variant tagging a regional haplotype that reduces plasminogen ex...	Innate Immunity & Infection Defense	Infection Risk	Moderate
rs4252185	PLG	Intronic PLG variant (intron 1) whose C allele is enriched in Europeans and a...	Innate Immunity & Infection Defense	Infection Risk	Emerging
rs763780	IL17F His161Arg	Missense variant that reduces IL-17F bioactivity and acts as a natural IL-17F...	TNF, NF-kB & Inflammatory Cytokines	Infection Risk	Moderate
rs6519605	TBX1	Intergenic variant on chromosome 22q11 (merged into rs133255) located downstr...	Innate Immunity & Infection Defense	Infection Risk	Emerging
rs73015965	PLG Lys38Glu (K38E)	Missense variant in plasminogen that reduces fibrinolytic activity and impair...	Innate Immunity & Infection Defense	Infection Risk	Strong
rs2227284	IL4 IL4 T+2979G	Intronic regulatory variant in IL-4, the master Th2 cytokine; the T allele im...	Allergy & Atopic Disease	Infection Risk	Moderate
rs35699176	ZNF77 ZNF77 Q100*	Nonsense variant truncating ZNF77 at codon 100, impairing bronchial epithelia...	Allergy & Atopic Disease	Infection Risk	Emerging