Tag

Rheumatoid Arthritis

57 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	Rheumatoid Arthritis	Strong
rs10499194	TNFAIP3	Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protecti...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Strong
rs10488631	IRF5	Near-gene regulatory variant tagging an IRF5 haplotype that elevates interfer...	Interferon Signaling & Systemic Autoimmune	Rheumatoid Arthritis	Strong
rs10818488	TRAF1 TRAF1-C5 rheumatoid arthritis variant	Intergenic regulatory variant between TRAF1 and C5 on chromosome 9; the A all...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Strong
rs11264799	FCRL3	Upstream regulatory variant in FCRL3 with a strong eQTL effect on FCRL3 expre...	B-Cell Immunity & Antibody-Mediated Disease	Rheumatoid Arthritis	Emerging
rs1234314	TNFSF4	Intronic variant in TNFSF4 that reduces OX40 ligand promoter activity and is ...	Interferon Signaling & Systemic Autoimmune	Rheumatoid Arthritis	Moderate
rs13207033	TNFAIP3	Intergenic protective variant near TNFAIP3 that tags a haplotype associated w...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Strong
rs12720356	TYK2 Ile684Ser	A missense variant in the TYK2 pseudokinase (JH2) domain that partially impai...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Strong
rs13277113	BLK	Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase ex...	B-Cell Immunity & Antibody-Mediated Disease	Rheumatoid Arthritis	Strong
rs12730735	PTPN22	Intronic PTPN22 haplotype tag variant that refines autoimmune risk stratifica...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Moderate
rs1801274	FCGR2A H131R	Missense variant in Fc gamma receptor IIa that substitutes histidine (H131, h...	B-Cell Immunity & Antibody-Mediated Disease	Rheumatoid Arthritis	Strong
rs1800630	TNF -863C>A	TNF promoter variant that disrupts NF-κB p50-p50 binding, reducing TNF-alpha ...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Moderate
rs201408742	GPR174	X-linked intergenic variant near GPR174 (G protein-coupled receptor 174), a l...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Emerging
rs2248932	BLK Promoter/Intronic	Intronic BLK variant in the FAM167A-BLK regulatory locus that reduces B-lymph...	B-Cell Immunity & Antibody-Mediated Disease	Rheumatoid Arthritis	Strong
rs2269475	AIF1 AIF1 Arg69Trp	Missense variant in allograft inflammatory factor 1 (Iba1), a macrophage-expr...	B-Cell Immunity & Antibody-Mediated Disease	Rheumatoid Arthritis	Moderate
rs2105325	LOC100506023 LOC100506023 rs2105325	Intronic variant in LOC100506023 (PRDX6-AS1) and TNFSF4 at the 1q25.1 locus, ...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Strong
rs2234067	ETV7 ETV7 rs2234067	Upstream regulatory variant near ETV7, an interferon-inducible transcriptiona...	Interferon Signaling & Systemic Autoimmune	Rheumatoid Arthritis	Strong
rs2736340	BLK	FAM167A-BLK region regulatory variant that reduces B-lymphoid tyrosine kinase...	B-Cell Immunity & Antibody-Mediated Disease	Rheumatoid Arthritis	Strong
rs2230926	TNFAIP3 F127C	Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negat...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Strong
rs2233434	NFKBIE	Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Strong
rs3733197	BANK1 A383T	BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signalin...	B-Cell Immunity & Antibody-Mediated Disease	Rheumatoid Arthritis	Strong
rs2234663	IL1RN	Intron 2 VNTR polymorphism in IL1RN that alters IL-1Ra isoform balance and is...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Strong
rs2304256	TYK2 TYK2 V362F	A common missense and splicing variant in TYK2 that promotes exon 8 inclusion...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Strong
rs3738919	ITGAV ITGAV integrin alpha-V variant	Intronic ITGAV variant associated with rheumatoid arthritis susceptibility in...	B-Cell Immunity & Antibody-Mediated Disease	Rheumatoid Arthritis	Emerging
rs3748079	ITPR3 ITPR3 rs3748079	Promoter variant in the ITPR3 calcium channel gene affecting NKX2.5 binding a...	B-Cell Immunity & Antibody-Mediated Disease	Rheumatoid Arthritis	Moderate
rs2469434	CD226	Deep-intronic variant in the CD226 (DNAM-1) co-stimulatory receptor gene asso...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Moderate
rs2476601	PTPN22 R620W	The strongest non-HLA autoimmune risk allele, affecting T-cell and B-cell sig...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Established
rs2501431	CNR2 CNR2 rs2501431	Synonymous coding variant in the cannabinoid receptor 2 gene that tags a hapl...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Moderate
rs4810485	CD40	Intronic variant in CD40 regulating B-cell surface expression; the G allele d...	B-Cell Immunity & Antibody-Mediated Disease	Rheumatoid Arthritis	Strong
rs660895	HLA-DRB1	Regulatory tag SNP in the HLA-DRB1 region; the G allele marks the HLA-DRB1*04...	Interferon Signaling & Systemic Autoimmune	Rheumatoid Arthritis	Strong
rs2488457	PTPN22	Promoter variant in PTPN22 that alters gene expression and modulates autoimmu...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Moderate
rs6910071	TSBP1	MHC-region intronic variant tagging HLA-DRB1 shared epitope haplotypes; G all...	Interferon Signaling & Systemic Autoimmune	Rheumatoid Arthritis	Strong
rs3087243	CTLA4 CT60	Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Strong
rs3134883	IL2RA	Intronic IL2RA variant independently associated with rheumatoid arthritis ris...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Strong
rs33996649	PTPN22 R263Q	Protective loss-of-function variant in the PTPN22 catalytic domain that reduc...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Strong
rs35018800	TYK2 TYK2 Ala928Val	A rare missense variant in the TYK2 pseudokinase (JH2) domain that partially ...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Strong
rs7574865	STAT4 Intron 3	Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response...	Interferon Signaling & Systemic Autoimmune	Rheumatoid Arthritis	Strong
rs3761847	TRAF1	Intronic GWAS variant in the TRAF1-C5 locus on chromosome 9 robustly associat...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Strong
rs582757	TNFAIP3 TNFAIP3 A20 regulatory variant	Intronic regulatory variant in TNFAIP3 — the primary NF-kB brake gene — with ...	Psoriasis & Spondyloarthropathy	Rheumatoid Arthritis	Strong
rs9268839	HLA-DRA	Intergenic tag SNP upstream of HLA-DRA; the G allele is the primary GWAS sign...	Interferon Signaling & Systemic Autoimmune	Rheumatoid Arthritis	Strong
rs3890745	MMEL1 MMEL1 rs3890745	Intronic variant near MMEL1 and TNFRSF14 on chromosome 1p36; the C allele is ...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Strong
rs4845625	IL6R	Intronic IL6R variant associated with coronary artery disease risk, elevated ...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Moderate
rs5742909	CTLA4 Promoter -318C/T	Promoter variant that increases CTLA-4 transcription; T allele carriers show ...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Moderate
rs7528684	FCRL3 -169C>T	Promoter variant in FCRL3 that alters NF-κB binding and elevates FCRL3 expres...	B-Cell Immunity & Antibody-Mediated Disease	Rheumatoid Arthritis	Moderate
rs9378815	IRF4	Regulatory variant ~15 kb upstream of IRF4 that modulates germinal center B c...	Interferon Signaling & Systemic Autoimmune	Rheumatoid Arthritis	Strong
rs5029937	TNFAIP3	Intronic risk variant within TNFAIP3 intron 2 that independently increases su...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Strong
rs7234029	PTPN2	Intronic PTPN2 variant that reduces expression of T-cell protein tyrosine pho...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Strong
rs72634030	RABEP1	Intronic RABEP1 variant associated with rheumatoid arthritis risk, acting thr...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Emerging
rs6920220	TNFAIP3	Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impair...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Strong
rs763361	CD226 Gly307Ser	Missense variant in the T-cell and NK-cell co-stimulatory receptor CD226 (DNA...	Autoimmune Tolerance & T-Cell Regulation	Rheumatoid Arthritis	Strong
rs7753394	TNFAIP3	Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3 that co-...	TNF, NF-kB & Inflammatory Cytokines	Rheumatoid Arthritis	Moderate
rs1885013	RAD51B RAD51B Rheumatoid Arthritis Variant	Intronic variant in RAD51B (RAD51 paralog B), a DNA double-strand break repai...	Allergy & Atopic Disease	Rheumatoid Arthritis	Moderate
rs34536443	TYK2 TYK2 p.Pro1104Ala	A missense variant in TYK2 that partially impairs JAK-family signaling downst...	Hormones & Sleep	Rheumatoid Arthritis	Strong
rs1950897	RAD51B RAD51B Intronic RA Susceptibility Variant	Intronic variant in RAD51B on chromosome 14; the T allele is associated with ...	Allergy & Atopic Disease	Rheumatoid Arthritis	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	Rheumatoid Arthritis	Moderate
rs911263	RAD51B RAD51B RA Proxy Variant	Intronic proxy variant in RAD51B associated with seropositive rheumatoid arth...	Allergy & Atopic Disease	Rheumatoid Arthritis	Moderate
rs963917	RAD51B RAD51B Central European RA Variant	A 3' UTR variant in RAD51B that alters miRNA-616 binding efficiency and is as...	Allergy & Atopic Disease	Rheumatoid Arthritis	Emerging