rs10416265
This is a protein-altering variant in the GPATCH1 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.
bone quantitative ultrasound measurement
Moayyeri A et al. “Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.” Human Molecular Genetics 23(11):3054-68 (2014)
Allele G
OR 0.06
p 2.0e-13
N 14,260
Meta-analysisMajor Consortium StudyLarge GWAS
multi-ancestry
velocity of sound measurement
Moayyeri A et al. “Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.” Human Molecular Genetics 23(11):3054-68 (2014)
Allele G
OR 0.06
p 4.0e-12
N 15,514
Meta-analysisMajor Consortium StudyLarge GWAS
multi-ancestry
About GPATCH1
Predicted to enable RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]
View all GPATCH1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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