rs1805007, MC1R

N. diseases: 25
Disease: Malignant neoplasm of skin ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
0.020 GeneticVariation BEFREE We studied the desensitization and internalization of three variant MC1R forms associated with red hair and increased skin cancer risk: R151C, R160W, and D294H. 17130136 2007
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
0.020 GeneticVariation BEFREE These studies have shown that three RHC alleles - Arg151Cys, Arg160Trp and Asp294His - were associated with increased risk in all forms of skin cancer and with penetrance and age of onset in familial melanoma in mutation carriers. 12394181 2002