Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913364
rs121913364
CUI: C0025202
Disease: melanoma
melanoma
0.720 GeneticVariation BEFREE Twenty-three percent of patients with V600E- and 43% of patients with K601E-mutant melanomas presented with nodal disease at diagnosis compared to just 14% of patients with BRAF wild-type tumors (P = 0.001 and 0.006, respectively). 26643848

2016

dbSNP: rs121913364
rs121913364
CUI: C0025202
Disease: melanoma
melanoma
0.720 GeneticVariation BEFREE Melanomas had p.V600E (n = 30), p.V600K (n = 4), p.K601E (n = 1), p.600-601delinsE (n = 1), or no p.V600 mutations (n = 31). 23651150

2014