Tag

Lupus

44 genetic variants with this tag.

RSID	Gene	Description	Category
rs10181656	STAT4	Intronic STAT4 tagging SNP on the primary SLE risk haplotype; the sentinel va...	Interferon Signaling & Systemic Autoimmune	Lupus	Strong
rs10499194	TNFAIP3	Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protecti...	TNF, NF-kB & Inflammatory Cytokines	Lupus	Strong
rs10516487	BANK1 R61H	BANK1 scaffold protein missense variant that shifts B-cell receptor signaling...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Strong
rs10488631	IRF5	Near-gene regulatory variant tagging an IRF5 haplotype that elevates interfer...	Interferon Signaling & Systemic Autoimmune	Lupus	Strong
rs11568821	LOC105373977 PDCD1/LOC105373977 PD1.3	Intronic regulatory variant near the PDCD1 (PD-1) immune checkpoint locus tha...	Autoimmune Tolerance & T-Cell Regulation	Lupus	Moderate
rs10800309	FCGR2A FCGR2A intronic variant	Intronic upstream variant in FCGR2A that modulates surface expression of the ...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Moderate
rs10954213	IRF5 3'UTR polyadenylation	3'UTR variant creating a functional polyadenylation site; A allele produces a...	Interferon Signaling & Systemic Autoimmune	Lupus	Strong
rs11269962	IRF5 Regulatory	A 14-bp indel 2.2 kb upstream of IRF5 that is the most strongly associated ci...	Interferon Signaling & Systemic Autoimmune	Lupus	Moderate
rs1234314	TNFSF4	Intronic variant in TNFSF4 that reduces OX40 ligand promoter activity and is ...	Interferon Signaling & Systemic Autoimmune	Lupus	Moderate
rs1270942	CFB	Intronic variant in Complement Factor B associated with strongly elevated sys...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Strong
rs12720270	TYK2 TYK2 Intron 7 Splicing Variant	An intronic variant in TYK2 intron 7 that promotes exon 8 inclusion in the ma...	Autoimmune Tolerance & T-Cell Regulation	Lupus	Moderate
rs13207033	TNFAIP3	Intergenic protective variant near TNFAIP3 that tags a haplotype associated w...	TNF, NF-kB & Inflammatory Cytokines	Lupus	Strong
rs13245639	IRF5 Regulatory	Cis-regulatory IRF5 variant in near-perfect LD (r²=0.97) with the rs729302 pr...	Interferon Signaling & Systemic Autoimmune	Lupus	Moderate
rs13277113	BLK	Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase ex...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Strong
rs13193677	TRAF3IP2	Intronic variant near the TRAF3IP2 locus (annotated in IPCEF1 at chr6q25.2 by...	Psoriasis & Spondyloarthropathy	Lupus	Moderate
rs17266594	BANK1 Branch-point splice	Intronic branch-point variant in BANK1 that shifts isoform balance toward ful...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Strong
rs1801274	FCGR2A H131R	Missense variant in Fc gamma receptor IIa that substitutes histidine (H131, h...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Strong
rs1539243	IKBKE IKBKE Ile67 synonymous variant	Synonymous coding variant in exon 4 of IKBKE (IKK-epsilon); the C allele tags...	Psoriasis & Spondyloarthropathy	Lupus	Moderate
rs16840252	CTLA4	Upstream promoter variant (~1147 bp 5' of CTLA4) tagging an autoimmune-associ...	Autoimmune Tolerance & T-Cell Regulation	Lupus	Moderate
rs1800630	TNF -863C>A	TNF promoter variant that disrupts NF-κB p50-p50 binding, reducing TNF-alpha ...	TNF, NF-kB & Inflammatory Cytokines	Lupus	Moderate
rs2004640	IRF5 G198T	Intronic variant creating alternative splice site that increases type I inter...	Interferon Signaling & Systemic Autoimmune	Lupus	Strong
rs2248932	BLK Promoter/Intronic	Intronic BLK variant in the FAM167A-BLK regulatory locus that reduces B-lymph...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Strong
rs2736340	BLK	FAM167A-BLK region regulatory variant that reduces B-lymphoid tyrosine kinase...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Strong
rs2280714	IRF5 3'UTR	Downstream regulatory variant in the IRF5 3' region that elevates IRF5 mRNA e...	Interferon Signaling & Systemic Autoimmune	Lupus	Moderate
rs2230926	TNFAIP3 F127C	Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negat...	TNF, NF-kB & Inflammatory Cytokines	Lupus	Strong
rs3733197	BANK1 A383T	BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signalin...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Strong
rs2304256	TYK2 TYK2 V362F	A common missense and splicing variant in TYK2 that promotes exon 8 inclusion...	Autoimmune Tolerance & T-Cell Regulation	Lupus	Strong
rs231775	CTLA4 Thr17Ala	Missense variant in the CTLA-4 leader peptide that reduces surface expression...	Autoimmune Tolerance & T-Cell Regulation	Lupus	Strong
rs3131379	MSH5	Intronic variant in the HLA class III region near MSH5 associated with lupus ...	Interferon Signaling & Systemic Autoimmune	Lupus	Strong
rs3748079	ITPR3 ITPR3 rs3748079	Promoter variant in the ITPR3 calcium channel gene affecting NKX2.5 binding a...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Moderate
rs403016	FCGR3A	Rare missense variant in Fc gamma receptor IIIa (CD16a) causing an Arg36Ser s...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Emerging
rs419788	SKIV2L	Intronic SKIV2L variant in the MHC class III region; the T allele tags an ind...	Interferon Signaling & Systemic Autoimmune	Lupus	Moderate
rs4728142	IRF5 Promoter Indel Tag (CGGGG insertion)	Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromati...	Interferon Signaling & Systemic Autoimmune	Lupus	Strong
rs2476601	PTPN22 R620W	The strongest non-HLA autoimmune risk allele, affecting T-cell and B-cell sig...	Autoimmune Tolerance & T-Cell Regulation	Lupus	Established
rs4840568	BLK	Regulatory variant 2kb upstream of BLK that tags reduced B-lymphoid tyrosine ...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Moderate
rs729302	IRF5	Near-gene variant tagging an IRF5 protective haplotype in the 5' promoter reg...	Interferon Signaling & Systemic Autoimmune	Lupus	Strong
rs33996649	PTPN22 R263Q	Protective loss-of-function variant in the PTPN22 catalytic domain that reduc...	Autoimmune Tolerance & T-Cell Regulation	Lupus	Strong
rs7574865	STAT4 Intron 3	Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response...	Interferon Signaling & Systemic Autoimmune	Lupus	Strong
rs6445975	PXK	Intronic PXK variant; the G allele is a replicated GWAS risk allele for syste...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Moderate
rs5029937	TNFAIP3	Intronic risk variant within TNFAIP3 intron 2 that independently increases su...	TNF, NF-kB & Inflammatory Cytokines	Lupus	Strong
rs7951	C3	Synonymous C3 variant associated with reduced serum complement C3 levels and ...	B-Cell Immunity & Antibody-Mediated Disease	Lupus	Moderate
rs5029939	TNFAIP3	Intronic variant near TNFAIP3 that tags a 6q23 haplotype strongly associated ...	TNF, NF-kB & Inflammatory Cytokines	Lupus	Strong
rs6920220	TNFAIP3	Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impair...	TNF, NF-kB & Inflammatory Cytokines	Lupus	Strong
rs907091	IKZF3 IKZF3 miRNA Binding Region Variant	A 3'UTR variant in IKZF3 that alters miR-326 binding affinity, reducing Aiolo...	Allergy & Atopic Disease	Lupus	Moderate