Gene: PTCH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853856
rs878853856
PTCH1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. 11231326

2001
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT 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
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. 15459969

2004
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Gorlin syndrome. 21304560

2011
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs878853856
rs878853856
PTCH1
0.800 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: rs878853856
rs878853856
PTCH1
0.800 GeneticVariation UNIPROT Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. 8840969

1996
dbSNP: rs1060502277
rs1060502277
PTCH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502277
rs1060502277
PTCH1
T 0.700 GeneticVariation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs1060502277
rs1060502277
PTCH1
T 0.700 GeneticVariation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs1060502285
rs1060502285
PTCH1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554698582
rs1554698582
PTCH1
G 0.700 GeneticVariation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs1554698582
rs1554698582
PTCH1
G 0.700 GeneticVariation CLINVAR Human homolog of patched, a candidate gene for the basal cell nevus syndrome. 8658145

1996
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: rs1554698582
rs1554698582
PTCH1
G 0.700 GeneticVariation 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
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: rs1564031259
rs1564031259
PTCH1 ; LOC100507346
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1564063386
rs1564063386
PTCH1
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587776689
rs587776689
PTCH1
0.700 GeneticVariation UNIPROT Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. 8840969

1996
dbSNP: rs587776689
rs587776689
PTCH1
0.700 GeneticVariation UNIPROT 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
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