rs2258604
This is a intron variant variant in the ANKS1A gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
neck of femur size
Tobias JH et al. “Femoral neck width genetic risk score is a novel independent risk factor for hip fractures.” Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research 39(3):241-251 (2024)
Allele A
OR 0.06
p 3.0e-15
N 38,150
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 T
OR 0.02
p 7.0e-10
N 219,872
Major Consortium StudyLarge GWAS
European
About ANKS1A
Predicted to enable ephrin receptor binding activity. Predicted to be involved in ephrin receptor signaling pathway; neuron remodeling; and substrate-dependent cell migration. Predicted to act upstream of or within negative regulation of ubiquitin-dependent protein catabolic process and regulation of ephrin receptor signaling pathway. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all ANKS1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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