Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Arg163Gln (p.R163Q), ENSG00000198211 p.Arg163Gln (p.R163Q)
(
ENST00000639847.1,
ENST00000555427.1,
ENST00000555147.2 )
MC1R p.Arg163Gln (p.R163Q), ENSG00000198211 p.Arg163Gln (p.R163Q) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.
- Pubmed
- 23647022
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.284044374341104
- Year of publication
- 2013
Drugs