Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204195
rs786204195
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		0.030 GeneticVariation BEFREE Furthermore, the germline P48T mutation was found in the CDKN2A gene exon 1, which is known to be associated with melanoma and pancreatic cancer. 18299477

2008
dbSNP: rs786204195
rs786204195
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		0.030 GeneticVariation BEFREE Our data suggest that the P48T mutation of p16 is a strong melanoma-predisposing factor, but the fact that the heterozygous mutant parents have not yet exhibited melanoma or atypical moles indicates that the penetrance of this allele might depend on modifying factors. 17625456

2007
dbSNP: rs786204195
rs786204195
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		0.030 GeneticVariation BEFREE The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma. 16470311

2006