Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Arg151Gly (p.R151G), ENSG00000198211 p.Arg151Gly (p.R151G)
(
ENST00000555427.1,
ENST00000639847.1,
ENST00000555147.2 )
MC1R p.Arg151Cys (p.R151C), ENSG00000198211 p.Arg151Cys (p.R151C) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg151Gly (p.R151G), ENSG00000198211 p.Arg151Gly (p.R151G) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg151Cys (p.R151C), ENSG00000198211 p.Arg151Cys (p.R151C) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- Freckles
- Source Database
- DisGeNET
- Description
- [Genetic determinants of hair, eye and skin pigmentation in Europeans.]
- Pubmed
- 17952075
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.124734063957204
- Year of publication
- 2007
Drugs