rs113286331

This is a regulatory region variant variant in the ENPP7 gene.

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GWAS Catalog Trait Associations (1)

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

ectonucleotide pyrophosphatase/phosphodiesterase family member 7 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele T

OR 0.56

p 3.0e-25

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

About ENPP7

The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]

View all ENPP7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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