Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149617956
rs149617956
CUI: C2931189
Disease: Neural crest tumor
Neural crest tumor
0.010 GeneticVariation BEFREE Our results indicate that the germline variant MITF, p.E318K is associated with an increased risk of other neural crest-derived tumors such as PCC/PGL. 27680874

2016