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
- basal cell carcinoma
- Source Database
- DisGeNET
- Description
- A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well-documented pigmentation gene, showed the strongest association with BCC risk in the discovery set (rs1805007[T]: OR (95% CI) for combined discovery set and replication set [1.55 (1.45-1.66); P= 4.3 × 10(-17)].
- Pubmed
- 21700618
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.257283860377944
- Year of publication
- 2011
Drugs