Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R MUTATION
MC1R MUTATION
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000639847.1, ENST00000555427.1 )
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
- Pubmed
- 25631192
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.284044374341104
- Year of publication
- 2015
Drugs