Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255280
rs879255280
SMO
0.810 GeneticVariation BEFREE Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO. 31825089

2020
dbSNP: rs879255280
rs879255280
SMO
0.810 GeneticVariation UNIPROT A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920

2016
dbSNP: rs879255280
rs879255280
SMO
0.810 GeneticVariation UNIPROT Identification of recurrent SMO and BRAF mutations in ameloblastomas. 24859340

2014
dbSNP: rs879255280
rs879255280
SMO
T 0.810 CausalMutation CLINVAR