rs11549914

This is a protein-altering variant in the SPINT1 gene.

▶

GWAS Catalog Trait Associations (1)

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

DnaJ homolog subfamily C member 17 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele T

OR —

β 1.220

p 6.0e-19

N 3,301

Large GWAS

European

About SPINT1

The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]

View all SPINT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

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

Comments

Loading comments…