Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs559848002
rs559848002
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		0.020 GeneticVariation BEFREE We found the disease-associated mutations p.R24P (8×), p.N71T (1×), p.G101W (1×), and p.V126D (1×) in the group with affected relatives and p.R24P (2×) in the group with several primary melanomas. 26225579

2015
dbSNP: rs559848002
rs559848002
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		0.020 GeneticVariation BEFREE All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay. 10389768

1999