Tag

Infectious Disease

17 genetic variants with this tag.

RSID	Gene	Description	Category
rs4986790	TLR4 Asp299Gly	Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recogni...	Immune & Gut	Immune System Inflammation Autoimmune	Strong
rs2569190	CD14 -159C>T	Promoter variant affecting CD14 expression and LPS receptor signaling — deter...	Immune & Gut	Immune & Gut Innate Immunity Inflammation	Strong
rs1800450	MBL2 Gly54Asp (variant B)	Missense variant disrupting mannose-binding lectin oligomerization, reducing ...	Immune & Gut	Innate Immunity Infectious Disease Complement	Strong
rs60910145	APOL1 G1 I384M	Second component of the APOL1 G1 kidney disease risk haplotype — a missense v...	Lipid & Fat Metabolism	Kidney Disease Cardiovascular Inflammation	Established
rs3751143	P2RX7 Glu496Ala	Loss-of-function variant in the P2X7 receptor that reduces inflammatory respo...	Neurology & Cognition	Pain Sensitivity Inflammation Immune Function	Strong
rs71785313	APOL1 G2 (del388N389Y)	Six-base-pair in-frame deletion removing two amino acids from apolipoprotein ...	Lipid & Fat Metabolism	Kidney Disease Cardiovascular Infectious Disease	Established
rs5743708	TLR2 R753Q	Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Strong
rs12979860	IFNL4	Intronic variant in IFNL4 — the strongest host genetic predictor of hepatitis...	Immune & Gut	Innate Immunity Inflammation Infectious Disease	Established
rs352140	TLR9	Synonymous variant in TLR9 that increases receptor expression, amplifying inn...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
rs4986791	TLR4 Thr399Ile	Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on...	Immune & Gut	Immune System Inflammation Autoimmune	Strong
rs3775291	TLR3 Leu412Phe	Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antivir...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Strong
rs5743618	TLR1 I602S	Coding variant replacing isoleucine with serine at TLR1 position 602, disrupt...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Strong
rs8099917	IFNL3	Intergenic variant upstream of IFNL3 — second major IL28B locus predictor of ...	Immune & Gut	Innate Immunity Inflammation Infectious Disease	Established
rs3804099	TLR2	Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splic...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
rs8177374	TIRAP Ser180Leu	Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate i...	Immune & Gut	Immune System Inflammation Infectious Disease	Strong
rs5743810	TLR6 Ser249Pro	Coding variant replacing serine with proline at TLR6 position 249, altering T...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
rs187084	TLR9 Promoter -1486T/C	Promoter variant that alters transcription factor binding and TLR9 expression...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate