rs13021401

This is a intergenic variant variant in the LOC107985856 gene.

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Research that mentions this SNP (1)

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C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: Results from a large french cohort and meta-analysis
ReviewBaptiste Coustet et al.(2011)· Arthritis & Rheumatism

This review article updates the genetics of systemic sclerosis (SSc), a multifactorial autoimmune disease. Key findings include identification of multiple susceptibility genes through candidate studies (STAT4 rs7574865, PTPN22 rs2476601, CD226 rs763361, TNFAIP3 rs5029939, and others) and genome-wide association studies revealing loci at HLA, STAT4, CD247, TNPO3/IRF5, and novel regions (TNIP1, RHOB). A large GWAS (N=2,296 cases/5,171 controls) identified HLA-DQB1 (rs6457617) as the strongest association and replicated CD247 rs2056626. Gene-gene interaction studies demonstrated additive effects of STAT4, IRF5, and NLRP1 variants on disease susceptibility.

Traits studied:Anticentromere antibody (ACA) positiveAntitopoisomerase antibody (ATA) positiveDiffuse cutaneous SSc (dcSSc)Digital ulcersEnd-stage lung diseaseFibrosing alveolitis (FA)Interstitial lung diseaseLimited cutaneous SSc (lcSSc)Pulmonary arterial hypertension (PAH)Systemic sclerosis (SSc)
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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