rs1131690987, PTCH1

N. diseases: 2
Disease: Basal Cell Nevus Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Basal Cell Nevus Syndrome
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
0.700 CausalMutation CLINVAR Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. 9620294 1998