Tag

Arthritis

35 genetic variants with this tag.

RSID	Gene	Description	Category
rs1004819	IL23R	Intronic IL-23 receptor variant that increases susceptibility to ankylosing s...	IBD & Mucosal Immunity	Arthritis	Strong
rs10050860	ERAP1 D575N	Missense variant (Asp575Asn) in the ERAP1 catalytic domain that modestly redu...	Psoriasis & Spondyloarthropathy	Arthritis	Strong
rs10489629	IL23R	Intronic IL23R variant in LD block 2 where the T allele is associated with in...	IBD & Mucosal Immunity	Arthritis	Strong
rs1217414	PTPN22	Intronic PTPN22 variant independently associated with psoriasis and ankylosin...	Autoimmune Tolerance & T-Cell Regulation	Arthritis	Moderate
rs10980705	LPAR1	Upstream regulatory variant that increases LPAR1 transcriptional activity in ...	Fitness & Body	Arthritis	Emerging
rs12883343	NFKBIA NFKBIA/IkB-alpha variant	Regulatory variant near NFKBIA that specifically elevates risk for psoriatic ...	Psoriasis & Spondyloarthropathy	Arthritis	Moderate
rs10889677	IL23R	3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — th...	IBD & Mucosal Immunity	Arthritis	Strong
rs13190932	TRAF3IP2 R74W	Missense variant in the IL-17 adaptor Act1 (Arg74Trp) that is the primary GWA...	Psoriasis & Spondyloarthropathy	Arthritis	Strong
rs17561	IL1A Ala114Ser	Missense variant in IL-1α (Ala114Ser) that acts as a common hypomorphic mutat...	TNF, NF-kB & Inflammatory Cytokines	Arthritis	Moderate
rs13196377	TRAF3IP2 Intronic haplotype member	Intronic tagging variant in the TRAF3IP2/TRAF3IP2-AS1 locus that distinguishe...	Psoriasis & Spondyloarthropathy	Arthritis	Moderate
rs13210247	TRAF3IP2	Intronic variant in the TRAF3IP2 locus that lies within the antisense lncRNA ...	Psoriasis & Spondyloarthropathy	Arthritis	Strong
rs11465804	IL23R	Intronic IL23R variant in strong linkage disequilibrium with the functional R...	IBD & Mucosal Immunity	Arthritis	Strong
rs12044149	IL23R	Regulatory variant upstream of the IL-23 receptor gene more strongly associat...	IBD & Mucosal Immunity	Arthritis	Strong
rs17482078	ERAP1 R725Q	Missense variant (Arg725Gln) in the ERAP1 peptide-binding domain that reduces...	Psoriasis & Spondyloarthropathy	Arthritis	Strong
rs2004640	IRF5 G198T	Intronic variant creating alternative splice site that increases type I inter...	Interferon Signaling & Systemic Autoimmune	Arthritis	Strong
rs2043211	CARD8 C10X	Truncating variant in the NLRP3 inflammasome brake that abolishes CARD8's cas...	TNF, NF-kB & Inflammatory Cytokines	Arthritis	Moderate
rs1343151	IL23R	Intronic IL23R variant whose minor A allele tags the protective haplotype for...	IBD & Mucosal Immunity	Arthritis	Moderate
rs2201841	IL23R	Intronic variant in the IL-23 receptor gene associated with increased risk of...	Psoriasis & Spondyloarthropathy	Arthritis	Strong
rs1495965	IL23R	Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated ...	IBD & Mucosal Immunity	Arthritis	Strong
rs2233434	NFKBIE	Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB...	TNF, NF-kB & Inflammatory Cytokines	Arthritis	Strong
rs26653	ERAP1	Missense variant (Arg127Pro) in ERAP1 that subtly alters ER peptide trimming ...	Psoriasis & Spondyloarthropathy	Arthritis	Strong
rs27044	ERAP1 Gln730Glu	Missense variant in the ERAP1 C-terminal regulatory domain modulating peptide...	Psoriasis & Spondyloarthropathy	Arthritis	Moderate
rs30187	ERAP1 K528R	Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosin...	Psoriasis & Spondyloarthropathy	Arthritis	Strong
rs2501431	CNR2 CNR2 rs2501431	Synonymous coding variant in the cannabinoid receptor 2 gene that tags a hapl...	TNF, NF-kB & Inflammatory Cytokines	Arthritis	Moderate
rs33980500	TRAF3IP2 D10N	Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b...	Psoriasis & Spondyloarthropathy	Arthritis	Strong
rs3758524	LTBR LTBR regulatory variant	Intronic regulatory variant near the lymphotoxin beta receptor gene influenci...	Innate Immunity & Infection Defense	Arthritis	Emerging
rs4349859	HLA-B HLA-B27 proxy	Intronic tag SNP located 41 kb centromeric of HLA-B and 5.4 kb telomeric of M...	Psoriasis & Spondyloarthropathy	Arthritis	Established
rs5742909	CTLA4 Promoter -318C/T	Promoter variant that increases CTLA-4 transcription; T allele carriers show ...	Autoimmune Tolerance & T-Cell Regulation	Arthritis	Moderate
rs7152376	NFKBIA	Regulatory variant upstream of NFKBIA that specifically elevates risk of psor...	Psoriasis & Spondyloarthropathy	Arthritis	Moderate
rs61752717	MEFV M694V	The most common and clinically severe MEFV mutation, converting methionine to...	TNF, NF-kB & Inflammatory Cytokines	Arthritis	Established
rs7540214	IFNLR1 IFNLR1 variant	Intronic variant in the interferon lambda receptor 1 gene that elevates PsA r...	Psoriasis & Spondyloarthropathy	Arthritis	Moderate
rs6693831	IL23R	Intronic IL23R variant where the minor T allele is associated with increased ...	IBD & Mucosal Immunity	Arthritis	Moderate
rs7517847	IL23R	Intronic IL23R variant in which the T allele increases susceptibility to Croh...	IBD & Mucosal Immunity	Arthritis	Strong
rs1885013	RAD51B RAD51B Rheumatoid Arthritis Variant	Intronic variant in RAD51B (RAD51 paralog B), a DNA double-strand break repai...	Allergy & Atopic Disease	Arthritis	Moderate
rs911263	RAD51B RAD51B RA Proxy Variant	Intronic proxy variant in RAD51B associated with seropositive rheumatoid arth...	Allergy & Atopic Disease	Arthritis	Moderate