rs77046774
This is a upstream gene variant variant in the MC5R 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.
color vision disorder
Nardone GG et al. “Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations.” Frontiers in Genetics 14:1161696 (2023)
Allele G
OR 0.13
p 6.0e-10
N 520
Small GWAS
Other
About MC5R
This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]
View all MC5R variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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