PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 4
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: rs121434397
rs121434397 		1.000 0.160 1 44827617 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 5 2004 2015
dbSNP: rs56126236
rs56126236 		0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05
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