rs72845184

This is a intron variant variant in the EXOC6B gene.

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GWAS Catalog Trait Associations (1)

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

level of bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial 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 T

OR 0.22

p 4.0e-12

N 47,745

Large GWAS

European

About EXOC6B

This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]

View all EXOC6B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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