Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Val60Leu (p.V60L), ENSG00000198211 p.Val60Leu (p.V60L)
(
ENST00000555147.2,
ENST00000555427.1,
ENST00000639847.1 )
MC1R p.Val60Leu (p.V60L), ENSG00000198211 p.Val60Leu (p.V60L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans.
- Pubmed
- 24045876
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.284044374341104
- Year of publication
- 2014
Drugs