rs3129889
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
multiple sclerosis
▶Research that mentions this SNP (2)
▶Functional relevance for multiple sclerosis-associated genetic variantsFunctionalXiang Lin et al.(2015)· Immunogenetics
Functional analysis of 284 MS-associated genetic variants using integrative approaches including GRAIL analysis, eQTL analysis, and differential gene expression. Identified 45 SNPs acting as cis-regulators on 19 MS-associated genes, with 6 key SNPs (rs3095329, rs9469220, rs2647046, rs11154801, rs1062158, rs7194) showing strong functional evidence via transcription factor binding sites or microRNA targets and differential expression in immune cells.
▶Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility lociMeta-analysisN=17,698Patsopoulos NA et al.(2011)· Annals of Neurology
This meta-analysis of 7 genome-wide association studies identified three novel multiple sclerosis susceptibility loci: rs170934 near EOMES (3p24.1, OR=1.17, P=1.6×10⁻⁸), rs2150702 in MLANA (9p24.1, OR=1.16, P=3.3×10⁻⁸), and rs6718520 near THADA (2p21, OR=1.17, P=3.4×10⁻⁸). The analysis encompassed 5,545 cases and 12,153 controls and identified 10 additional loci with suggestive evidence of association (P<1×10⁻⁶), including IL12B, TAGAP, PLEK, and ZMIZ1, which are shared with other inflammatory diseases.
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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