rs1200503
This is a intron variant variant in the FCHO2 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.
aspartate aminotransferase measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.03
p 5.0e-57
N 493,058
Large GWAS
multi-ancestry
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele G
OR 12.70
p 9.0e-37
N 389,565
Large GWAS
multi-ancestry
About FCHO2
Enables identical protein binding activity. Involved in clathrin coat assembly and clathrin-dependent endocytosis. Located in clathrin-coated pit and clathrin-coated vesicle. [provided by Alliance of Genome Resources, Jul 2025]
View all FCHO2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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