rs12471240

This is a intron variant variant in the NGEF gene.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele C

OR 0.02

p 5.0e-75

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

bilirubin 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 0.03

p 3.0e-42

N 394,642

Large GWAS

European

About NGEF

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in ephrin receptor signaling pathway; regulation of actin cytoskeleton organization; and regulation of synapse organization. Predicted to be located in cytosol. Predicted to be active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Apr 2025]

View all NGEF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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