rs4601790
This is a downstream gene variant variant in the EHBP1L1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.01
p 7.0e-13
N 405,540
Large GWAS
European
BMI-adjusted waist circumference
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.02
p 1.0e-10
N 219,872
Major Consortium StudyLarge GWAS
European
health trait
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.01
p 6.0e-9
N 405,979
Large GWAS
European
About EHBP1L1
Predicted to act upstream of or within several processes, including enucleation; erythrocyte differentiation; and mitochondrion localization. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all EHBP1L1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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