Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749499406
rs749499406
ACD
CUI: C0025202
Disease: melanoma
melanoma 		0.010 GeneticVariation BEFREE We identified (likely) pathogenic variants in established melanoma susceptibility genes in 18 families (n = 3 BAP1, n = 15 MITF p.E318K; diagnostic yield 4.0%). 30414346

2019