Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R p.Val92Met (p.V92M), ENSG00000198211 p.Val92Met (p.V92M)
(
ENST00000555147.2,
ENST00000555427.1,
ENST00000639847.1 )
MC1R p.Val92Leu (p.V92L), ENSG00000198211 p.Val92Leu (p.V92L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg163Gln (p.R163Q), ENSG00000198211 p.Arg163Gln (p.R163Q) ( ENST00000639847.1, ENST00000555427.1, ENST00000555147.2 )
MC1R p.Val92Met (p.V92M), ENSG00000198211 p.Val92Met (p.V92M) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Val92Leu (p.V92L), ENSG00000198211 p.Val92Leu (p.V92L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg163Gln (p.R163Q), ENSG00000198211 p.Arg163Gln (p.R163Q) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- Lentigo
- Source Database
- DisGeNET
- Description
- Effect of Val92Met and Arg163Gln variants of the MC1R gene on freckles and solar lentigines in Japanese.
- Pubmed
- 17371441
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2007
Drugs