Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225054
rs863225054
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs863225054
rs863225054
PTCH1
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles 		C 0.700 CausalMutation CLINVAR