Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554697928
rs1554697928
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		GT 0.700 CausalMutation CLINVAR De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. 9415689

1997