rs544638172

This variant is located in the FAT4 gene.

GWAS Catalog Trait Associations (1)

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

glioma pathogenesis-related protein 1 measurement

Allele C
OR 1.06
p 1.0e-26
N 47,745
Large GWAS
European

About FAT4

The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]

View all FAT4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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