rs150054509

This is a regulatory region variant variant in the FAM47E-STBD1 gene.

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GWAS Catalog Trait Associations (1)

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

N-acylethanolamine-hydrolyzing acid amidase measurement

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 0.34

p 4.0e-19

N 47,745

Large GWAS

European

About FAM47E-STBD1

This locus represents naturally occurring read-through transcription between the neighboring FAM47E (family with sequence similarity 47, member E) and STBD1 (starch binding domain 1) genes on chromosome 4. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Jul 2011]

View all FAM47E-STBD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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