rs1406815
This is a synonymous variant in the HAGHL gene — it does not change the protein's amino acid sequence.
▶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.
bone fracture
▶Research that mentions this SNP (1)
▶Genome-wide Association Studies Reveal Novel Locus With Sex-/Therapy-Specific Fracture Risk Effects in Childhood Cancer SurvivorsMeta-analysisN=3,870Cindy Im et al.(2020)· Journal of Bone and Mineral Research
Genome-wide association study of fracture risk in childhood cancer survivors identified a novel female-specific locus at 16p13.3 (HAGHL) with rs1406815 showing genome-wide significant association (HR=1.43, P=8.2×10^-9) in combined discovery (N=2,453 CCSS) and replication (N=1,417 SJLIFE) cohorts. Effects were markedly amplified by head/neck radiation therapy dose. A second locus at CD86 (3q13.33) reached significance in discovery but did not replicate.
About HAGHL
Predicted to enable hydroxyacylglutathione hydrolase activity. Predicted to be involved in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione. [provided by Alliance of Genome Resources, Jul 2025]
View all HAGHL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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