Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918347
rs121918347
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0025286
Disease:
Meningioma
0.010 GeneticVariation BEFREE A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (p.Glu17Lys) and SMO (p.Trp535Leu) and exhibited immunohistochemical evidence of activation of these pathways. 23334667 2013