rs2540641
This is a regulatory region variant variant in the DGCR5 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.
proline level
Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)
Allele A
OR 0.15
p 2.0e-59
N 7,475
Large GWAS
European
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR 0.06
p 3.0e-59
N 7,816
Large GWAS
European
About DGCR5
Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Jul 2025]
View all DGCR5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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