rs9994623
This is a intron variant variant in the ENPP6 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of glycerophosphocholine cholinephosphodiesterase ENPP6 in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.06
p 2.0e-32
N 47,745
Large GWAS
European
psychotic symptoms
DeMichele-Sweet MAA et al. “Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease.” Molecular Psychiatry 26(10):5797-5811 (2021)
Allele C
OR 1.16
p 1.0e-8
N 12,317
Large GWAS
multi-ancestry
About ENPP6
Enables glycerophosphocholine cholinephosphodiesterase activity. Involved in choline metabolic process and lipid metabolic process. Located in extracellular region and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all ENPP6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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