rs1062633

This variant is located in the MST1R gene.

GWAS Catalog Trait Associations (2)

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

cognitive domain measurement

Allele T
OR 0.03
p 4.0e-14
N 158,996
Large GWAS
European

metabolite measurement, diet measurement

Allele T
OR
β 0.025
p 4.0e-9
N 92,246
Major Consortium StudyLarge GWAS
European

ClinVar annotation

Benign
1 submitter

MST1R-related disorder

View on ClinVar →

About MST1R

This gene encodes a cell surface receptor for macrophage-stimulating protein (MSP) with tyrosine kinase activity. The mature form of this protein is a heterodimer of disulfide-linked alpha and beta subunits, generated by proteolytic cleavage of a single-chain precursor. The beta subunit undergoes tyrosine phosphorylation upon stimulation by MSP. This protein is expressed on the ciliated epithelia of the mucociliary transport apparatus of the lung, and together with MSP, thought to be involved in host defense. Alternative splicing generates multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]

View all MST1R 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

Sign in to join the discussion.

Loading comments…