rs149617956, MITF

N. diseases: 32
Disease: Cutaneous Melanoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.010 GeneticVariation BEFREE We performed genetic analysis of CDKN2A, CDK4, BAP1, MC1R, and MITFp.E318K in Danish high-risk melanoma cases and found CDKN2A germline mutations in 11.3% of CM families with three or more affected individuals, including four previously undescribed mutations. 25803691 2015