rs10786156

This variant is located in the PLCE1 gene.

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GWAS Catalog Trait Associations (6)

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

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele G
OR 10.11
p 5.0e-24
N 33,748
Large GWAS
European

migraine disorder

Choquet H et al. “New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis.” Communications Biology 4(1):864 (2021)
Allele G
OR 0.95
p 6.0e-19
N 889,018
Meta-analysisLarge GWAS
European

neuroimaging measurement

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele G
OR 0.07
p 2.0e-13
N 21,081
Major Consortium StudyLarge GWAS
European
Fu J et al. “Cross-ancestry genome-wide association studies of brain imaging phenotypes.” Nature Genetics 56(6):1110-1120 (2024)
Allele G
OR 0.12
p 2.0e-11
N 7,058
Large GWAS
East Asian

blood urea nitrogen amount

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 4.0e-13
N 599,920
Major Consortium StudyLarge GWAS
multi-ancestry

aspartate aminotransferase measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 4.0e-11
N 493,058
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
4 submitters1 publication

not provided; Nephrotic syndrome, type 3; not specified

View on ClinVar →

About PLCE1

This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]

View all PLCE1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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