rs116967165

This is a upstream gene variant variant in the HMSD gene.

GWAS Catalog Trait Associations (1)

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

level of serpin B8 in blood

Allele G
OR 0.70
p 7.0e-66
N 47,745
Large GWAS
European

About HMSD

This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. [provided by RefSeq, Oct 2010]

View all HMSD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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