rs146317318
This is a regulatory region variant variant in the RAB40C 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.
mean reticulocyte volume
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.20
p 2.0e-26
N 394,642
Large GWAS
European
erythrocyte volume
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.14
p 3.0e-14
N 394,642
Large GWAS
European
About RAB40C
Predicted to enable GTPase activity. Predicted to be involved in exocytosis. Located in Golgi apparatus and lipid droplet. [provided by Alliance of Genome Resources, Jul 2025]
View all RAB40C variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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