rs2230593

This variant is located in the MST1R gene.

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GWAS Catalog Trait Associations (1)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.02
p 3.0e-11
N 1,122,049
Large GWAS
European
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ClinVar annotation

Benign
2 submitters

MST1R-related disorder; Thymoma; Colorectal cancer; Acute myeloid leukemia; Nonpapillary renal cell carcinoma

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.

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