Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766905791
rs766905791
PTCH1
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.010 GeneticVariation BEFREE We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801

2009