Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894340
rs104894340
CDK4
CUI: C0025202
Disease: melanoma
melanoma 		0.740 GeneticVariation BEFREE We observed no disease-related mutations in CDKN2A, but one patient had a CDK4 R24H mutation and strong family history of melanoma. 19238106

2009
dbSNP: rs104894340
rs104894340
CDK4
CUI: C0025202
Disease: melanoma
melanoma 		0.740 GeneticVariation BEFREE No disease-related CDKN2A germline mutations were identified in any of the melanoma patients analysed but the previously described CDK4 mutation, Arg24His, was found in one patient with a family history of melanoma. 17505264

2007
dbSNP: rs104894340
rs104894340
CDK4
CUI: C0025202
Disease: melanoma
melanoma 		0.740 GeneticVariation BEFREE In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusually large melanoma kindred. 15880589

2005
dbSNP: rs104894340
rs104894340
CDK4
CUI: C0025202
Disease: melanoma
melanoma 		0.740 GeneticVariation BEFREE Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or His) render CDK4 insensitive to p16(INK4) inhibition and are responsible for melanoma susceptibility in some kindreds. 12904177

2003