rs369318862

This variant is located in the RSPO3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About RSPO3

This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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