Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
CUI: C0025202
Disease: melanoma
melanoma 		0.020 GeneticVariation BEFREE However, we identified a p14ARF exon 1beta missense germline mutation (G16D) in a melanoma-neural system tumour syndrome (CMM+NST) family and a 8474 bp germline deletion from 196 bp upstream of p14ARF exon 1beta initiation codon to 11233 bp upstream of exon 1alpha of p16(INK4A) in a family with five melanoma cases. 15937071

2006
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
CUI: C0025202
Disease: melanoma
melanoma 		0.020 GeneticVariation BEFREE We also know from mouse models that Ras/mitogen-activated protein kinase pathway activation is very important in melanoma development, either through direct activation of Ras (e.g., Hras G12V), or via activation of Ras-effector pathways by other oncogenes (e.g., Ret, Hgf/Sf). 12406321

2002