Tag

Infectious Disease

31 genetic variants with this tag.

RSID	Gene	Description	Category
rs146906133	FRMD5 FRMD5 UTI susceptibility variant	Intronic variant in FRMD5 — a cell-adhesion scaffolding gene — where the rare...	Innate Immunity & Infection Defense	Infectious Disease	Emerging
rs1800450	MBL2 Gly54Asp (variant B)	Missense variant disrupting mannose-binding lectin oligomerization, reducing ...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs187084	TLR9 Promoter -1486T/C	Promoter variant that alters transcription factor binding and TLR9 expression...	Innate Immunity & Infection Defense	Infectious Disease	Moderate
rs1898830	TLR2	Intronic TLR2 variant that modulates innate immune signaling intensity; G all...	Innate Immunity & Infection Defense	Infectious Disease	Moderate
rs230523	NFKB1	Intronic variant in the master immune transcription factor NF-κB1, associated...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs2569190	CD14 -159C>T	Promoter variant affecting CD14 expression and LPS receptor signaling — deter...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs12979860	IFNL4	Intronic variant in IFNL4 — the strongest host genetic predictor of hepatitis...	Pharmacogenomics	Infectious Disease	Established
rs3077	HLA-DPA1 HLA-DPA1 3′ UTR variant	Regulatory variant in the 3′ UTR of HLA-DPA1 that controls surface expression...	Interferon Signaling & Systemic Autoimmune	Infectious Disease	Strong
rs12980275	IFNL3	Downstream variant near IFNL3 — third IL28B locus predictor of hepatitis C sp...	Pharmacogenomics	Infectious Disease	Established
rs352140	TLR9	Synonymous variant in TLR9 that increases receptor expression, amplifying inn...	Innate Immunity & Infection Defense	Infectious Disease	Moderate
rs3764880	TLR8 A1G	X-linked initiator codon variant in TLR8 that fine-tunes the ratio of two TLR...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs3774937	NFKB1 NFKB1 promoter/regulatory variant	Intronic NFKB1 variant with genome-wide significant associations with ulcerat...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs3775291	TLR3 Leu412Phe	Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antivir...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs7770370	HLA-DPB1	Intronic tag SNP in HLA-DPB1 (and upstream of HLA-DPA1) that marks the HLA-DP...	Interferon Signaling & Systemic Autoimmune	Infectious Disease	Strong
rs3804099	TLR2	Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splic...	Innate Immunity & Infection Defense	Infectious Disease	Moderate
rs4648127	NFKB1 NFKB1 intronic variant	Rare protective intronic variant in the master immune transcription factor NF...	Innate Immunity & Infection Defense	Infectious Disease	Moderate
rs4833095	TLR1 N248S	Missense variant replacing asparagine with serine at TLR1 position 248 in the...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs4986790	TLR4 Asp299Gly	Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recogni...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs4986791	TLR4 Thr399Ile	Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs5743618	TLR1 I602S	Coding variant replacing isoleucine with serine at TLR1 position 602, disrupt...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs5743708	TLR2 R753Q	Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs5743810	TLR6 Ser249Pro	Coding variant replacing serine with proline at TLR6 position 249, altering T...	Innate Immunity & Infection Defense	Infectious Disease	Moderate
rs5743836	TLR9 Promoter -1237T/C	TLR9 promoter variant that creates an IL-6-responsive element and estrogen-se...	Innate Immunity & Infection Defense	Infectious Disease	Moderate
rs60910145	APOL1 G1 I384M	Second component of the APOL1 G1 kidney disease risk haplotype — a missense v...	Cholesterol & Lipoproteins	Infectious Disease	Established
rs7047299	IFNA21	Regulatory variant upstream of interferon alpha-21 associated with increased ...	Innate Immunity & Infection Defense	Infectious Disease	Moderate
rs71785313	APOL1 G2 (del388N389Y)	Six-base-pair in-frame deletion removing two amino acids from apolipoprotein ...	Cholesterol & Lipoproteins	Infectious Disease	Established
rs8177374	TIRAP Ser180Leu	Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate i...	Innate Immunity & Infection Defense	Infectious Disease	Strong
rs3751143	P2RX7 Glu496Ala	Loss-of-function variant in the P2X7 receptor that reduces inflammatory respo...	Neurology & Cognition	Infectious Disease	Strong
rs4803217	IFNL3 3'UTR	3' untranslated region variant in IFNL3 (IL28B) that controls mRNA stability ...	Pharmacogenomics	Infectious Disease	Strong
rs6967330	CDHR3 C529Y	Missense variant in the rhinovirus-C receptor CDHR3 that increases cell-surfa...	Allergy & Atopic Disease	Infectious Disease	Strong
rs8099917	IFNL3	Intergenic variant upstream of IFNL3 — second major IL28B locus predictor of ...	Pharmacogenomics	Infectious Disease	Established