Tag

Lupus

15 genetic variants with this tag.

RSID	Gene	Description	Category
rs2476601	PTPN22 R620W	The strongest non-HLA autoimmune risk allele, affecting T-cell and B-cell sig...	Immune & Gut	Autoimmune Immune System Rheumatoid Arthritis	Established
rs2004640	IRF5 G198T	Intronic variant creating alternative splice site that increases type I inter...	Immune & Gut	Immune & Autoimmune Inflammation Interferon	Strong
rs2230926	TNFAIP3 F127C	Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negat...	Immune & Gut	Autoimmune Inflammation Gut Barrier	Strong
rs6920220	TNFAIP3	Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impair...	Immune & Gut	Autoimmune Inflammation Rheumatoid Arthritis	Strong
rs10488631	IRF5	Near-gene regulatory variant tagging an IRF5 haplotype that elevates interfer...	Immune & Gut	Immune & Autoimmune Interferon Lupus	Strong
rs1270942	CFB	Intronic variant in Complement Factor B associated with strongly elevated sys...	Immune & Gut	Complement System Lupus Autoimmune	Strong
rs7574865	STAT4 Intron 3	Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response...	Immune & Gut	Immune & Gut Lupus Interferon	Strong
rs10516487	BANK1 R61H	BANK1 scaffold protein missense variant that shifts B-cell receptor signaling...	Immune & Gut	Autoimmune Lupus Immune System	Strong
rs13277113	BLK	Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase ex...	Immune & Gut	Autoimmune Lupus Immune System	Strong
rs729302	IRF5	Near-gene variant tagging an IRF5 protective haplotype in the 5' promoter reg...	Immune & Gut	Immune & Autoimmune Interferon Lupus	Strong
rs3131379	MSH5	Intronic variant in the HLA class III region near MSH5 associated with lupus ...	Immune & Gut	Immune & Autoimmune Lupus Interferon	Strong
rs3733197	BANK1 A383T	BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signalin...	Immune & Gut	Autoimmune Lupus Immune System	Strong
rs10499194	TNFAIP3	Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protecti...	Immune & Gut	Autoimmune Inflammation Rheumatoid Arthritis	Strong
rs231775	CTLA4 Thr17Ala	Missense variant in the CTLA-4 leader peptide that reduces surface expression...	Immune & Gut	Immune & Autoimmune Autoimmune Thyroid	Strong
rs4728142	IRF5 Promoter Indel Tag (CGGGG insertion)	Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromati...	Immune & Gut	Immune & Autoimmune Interferon Lupus	Strong