rs572250570
This variant is located 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.
erythrocyte volume
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.64
p 6.0e-18
N 408,112
Large GWAS
European
mean corpuscular hemoglobin
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.63
p 9.0e-18
N 408,112
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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