Tag

Innate Immunity

22 genetic variants with this tag.

RSID	Gene	Description	Category
rs2738058	DEFA1A3	Intergenic variant downstream of the DEFA1A3 alpha-defensin locus; T risk all...	Dental & Oral Health	Dental & Oral Health Innate Immunity Inflammation	Strong
rs2066844	NOD2 R702W	Missense variant in the NOD2 gene that increases Crohn's disease risk, partic...	Immune & Gut	Innate Immunity Gut Microbiome Inflammatory Bowel Disease	Established
rs3197999	MST1 R689C	Macrophage-stimulating protein variant affecting innate immune response and I...	Immune & Gut	Immune & Gut IBD Innate Immunity	Strong
rs35829419	NLRP3 Q705K	Gain-of-function missense variant in the NLRP3 inflammasome sensor that eleva...	Immune & Gut	Immune & Gut Inflammation Gout	Moderate
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
rs4077515	CARD9 S12N	Gain-of-function missense variant in the CARD9 adaptor protein that enhances ...	Immune & Gut	Immune & Gut Innate Immunity Gut Microbiome	Strong
rs396991	FCGR3A V158F	Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig...	Immune & Gut	Immune & Gut Pharmacogenomics Innate Immunity	Strong
rs11362	DEFB1 G-20A	5' UTR variant in the beta-defensin 1 gene that reduces antimicrobial peptide...	Immune & Gut	Innate Immunity Gut Health Immune & Gut	Moderate
rs1990760	IFIH1 Ala946Thr	Gain-of-function missense variant in the MDA5 viral RNA sensor, enhancing typ...	Immune & Gut	Immune & Autoimmune Type 1 Diabetes Innate Immunity	Strong
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
rs117648444	IFNL4 Pro70Ser (P70S)	Missense variant in IFNL4 exon 2 that reduces IFN-λ4 protein activity; the Se...	Immune & Gut	Immune & Antiviral Hepatitis C Interferon	Strong
rs352140	TLR9	Synonymous variant in TLR9 that increases receptor expression, amplifying inn...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate
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
rs4696480	TLR2 T-16934A	Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, asso...	Immune & Gut	Innate Immunity Skin Health Inflammation	Moderate