rs188112039

This is a upstream gene variant variant in the PLEKHA4 gene.

GWAS Catalog Trait Associations (1)

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

dickkopf-like protein 1 measurement

Allele A
OR 0.30
p 2.0e-11
N 47,745
Large GWAS
European

About PLEKHA4

This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]

View all PLEKHA4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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