rs1134590

This is a coding sequence variant variant.

GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

carcinoembryonic antigen-related cell adhesion molecule 1 measurement

Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele T
OR
β 0.780
p 2.0e-170
N 3,301
Large GWAS
European

retroviral-like aspartic protease 1 measurement

Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele T
OR
β 0.570
p 4.0e-82
N 3,301
Large GWAS
European

salivary acidic proline-rich phosphoprotein 1/2 measurement

Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele T
OR
β 0.370
p 1.0e-34
N 3,301
Large GWAS
European

level of PITH domain-containing protein 1 in blood

Allele T
OR 0.05
p 1.0e-12
N 47,745
Large GWAS
European

Research that mentions this SNP (1)

Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis
AssociationN=638Dorothea Buck et al.(2013)· Annals of Neurology

A genome-wide association study identified five SNPs in the immunoglobulin heavy chain locus (IGHC) on chromosome 14q32.33 associated with the IgG index, a measure of intrathecal IgG synthesis in multiple sclerosis patients. The strongest association was rs10136766 (p = 7.5 × 10⁻¹⁶), which explained 8.9% of variance and was associated with the GM21* haplotype. These SNPs showed no association with MS susceptibility itself.

Traits studied:IgG indexIntrathecal IgG synthesisMultiple sclerosis

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

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…