Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853856
rs878853856
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		G 0.800 GeneticVariation CLINVAR

dbSNP: rs199476093
rs199476093
PTCH1
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		C 0.800 CausalMutation CLINVAR

dbSNP: rs878853849
rs878853849
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		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
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		C 0.700 GeneticVariation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs878853849
rs878853849
PTCH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR

dbSNP: rs878853847
rs878853847
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs864622583
rs864622583
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs864622374
rs864622374
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs864622293
rs864622293
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs864622212
rs864622212
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		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
dbSNP: rs864622212
rs864622212
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		A 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs863225055
rs863225055
PTCH1
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles 		C 0.700 CausalMutation CLINVAR

dbSNP: rs863225055
rs863225055
PTCH1
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus 		C 0.700 CausalMutation CLINVAR

dbSNP: rs863225055
rs863225055
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR

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

dbSNP: rs863224487
rs863224487
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs863224486
rs863224486
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs863224485
rs863224485
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs863224484
rs863224484
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863224444
rs863224444
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs863224443
rs863224443
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		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
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		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: rs863224443
rs863224443
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs863224442
rs863224442
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		T 0.700 GeneticVariation CLINVAR