Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759763964
rs759763964
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		0.020 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019

2013
dbSNP: rs759763964
rs759763964
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