rs2292626

This is a intron variant variant in the PLEKHA1 gene.

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GWAS Catalog Trait Associations (4)

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

birth weight

Warrington NM et al. “Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.” Nature Genetics 51(5):804-814 (2019)
Allele T
OR 0.02
p 3.0e-14
N 321,223
Large GWAS
multi-ancestry

type 2 diabetes mellitus

Scott RA et al. “An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.” Diabetes 66(11):2888-2902 (2017)
Allele C
OR 1.07
p 2.0e-13
N 159,208
Large GWAS
European

birth weight, parental genotype effect measurement

Warrington NM et al. “Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.” Nature Genetics 51(5):804-814 (2019)
Allele T
OR 0.02
p 1.0e-8
N 230,069
Large GWAS
European

About PLEKHA1

This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]

View all PLEKHA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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