PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Basal Cell Nevus Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1564051237
rs1564051237 		1.000 0.160 9 95478057 frameshift variant GAGT/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2013 2013