rs6488864

This variant is located in the PITPNM2 gene.

GWAS Catalog Trait Associations (2)

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

cortical thickness

van der Meer D et al. The genetic architecture of human cortical folding. Science Advances 7(51):eabj9446 (2021)
Allele G
OR 8.07
p 7.0e-16
N 33,748
Large GWAS
European
Allele G
OR
p 3.0e-12
N 35,657
Large GWAS
European

uterine fibroid

Allele C
OR 0.09
p 3.0e-9
N 253,542
Meta-analysisLarge GWAS
East Asian, Central Asian, South Asian

About PITPNM2

PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]

View all PITPNM2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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