rs12332985

This is a intron variant variant in the DEF6 gene.

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GWAS Catalog Trait Associations (1)

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

body height

Graff M et al. “Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.” American Journal of Human Genetics 108(4):564-582 (2021)

Allele C

OR 0.07

p 2.0e-15

N 41,389

Large GWAS

multi-ancestry

About DEF6

DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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