Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894099
rs104894099
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		0.020 GeneticVariation BEFREE Three of them are CDKN2A mutations previously described in the Mediterranean population (p.G101W, p.V59G and c.358delG) in addition to an undescribed deletion (p. M54del) which has been detected in a melanoma kindred. 20653773

2010
dbSNP: rs104894099
rs104894099
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		0.020 GeneticVariation BEFREE We conclude that the Val59Gly mutation is a major contributor to melanoma risk in the families under study and that it may derive from a single ancestral founder of Mediterranean (possibly Jewish) origin. 12700603

2003