Gene: PTCH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554698582
rs1554698582
PTCH1
G 0.700 GeneticVariation CLINVAR Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. 17021131

2006
dbSNP: rs1554698613
rs1554698613
PTCH1
C 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs1554698613
rs1554698613
PTCH1
C 0.700 CausalMutation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs1554700574
rs1554700574
PTCH1
A 0.700 GeneticVariation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs1554700574
rs1554700574
PTCH1
A 0.700 GeneticVariation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs1554708760
rs1554708760
PTCH1
T 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs1564050178
rs1564050178
PTCH1
C 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs776154605
rs776154605
PTCH1
C 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs863224443
rs863224443
PTCH1
C 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs863224443
rs863224443
PTCH1
C 0.700 CausalMutation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs864622212
rs864622212
PTCH1
A 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs878853849
rs878853849
PTCH1
C 0.700 GeneticVariation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs878853849
rs878853849
PTCH1
C 0.700 GeneticVariation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs878853852
rs878853852
PTCH1 ; LOC100507346
C 0.700 CausalMutation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs878853852
rs878853852
PTCH1 ; LOC100507346
C 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs1060502268
rs1060502268
PTCH1
T 0.700 CausalMutation CLINVAR DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. 16088933

2005
dbSNP: rs1554708771
rs1554708771
PTCH1
G 0.700 CausalMutation CLINVAR DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. 16088933

2005
dbSNP: rs863224443
rs863224443
PTCH1
C 0.700 CausalMutation CLINVAR DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. 16088933

2005
dbSNP: rs587776689
rs587776689
PTCH1
0.700 GeneticVariation UNIPROT Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. 15459969

2004
dbSNP: rs1060502268
rs1060502268
PTCH1
T 0.700 CausalMutation CLINVAR Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. 12655573

2003
dbSNP: rs1554708753
rs1554708753
PTCH1
T 0.700 CausalMutation CLINVAR Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. 11457640

2001
dbSNP: rs587776689
rs587776689
PTCH1
0.700 GeneticVariation UNIPROT Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. 11231326

2001
dbSNP: rs1131690987
rs1131690987
PTCH1
C 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
dbSNP: rs587776689
rs587776689
PTCH1
0.700 GeneticVariation UNIPROT Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. 9620294

1998
dbSNP: rs1060502292
rs1060502292
PTCH1 ; LOC100507346
T 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