Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690986
rs1131690986
PTCH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. 18502968

2008
dbSNP: rs1131690986
rs1131690986
PTCH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. 8981943

1997