Annotation Detail

Information
Associated Genes
MC1R
Associated Variants
MC1R MUTATION
MC1R MUTATION
Associated Disease
Experimental Organism Basal Cell Carcinoma
Source Database
DisGeNET
Description
The rs1805007|rs386505388>p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier median age of onset of BCC of 27 years (95% CI: 20-34) compared with 34 years (95% CI: 30-40) for wild-type individuals (hazard ratio (HR)=1.64, 95% CI: 1.04-2.58, P=0.034).
Pubmed
25159867
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
5
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00461451182536516
Drugs