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