rs2999052
This is a intron variant variant in the EEFSEC gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hypospadias
Geller F et al. “Genome-wide association analyses identify variants in developmental genes associated with hypospadias.” Nature Genetics 46(9):957-63 (2014)
Allele T
OR 1.55
p 1.0e-26
N 6,492
Large GWAS
European
About EEFSEC
Enables GTPase activity. Involved in selenocysteine incorporation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]
View all EEFSEC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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