PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Severe intellectual disability ×
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: rs1554691658
rs1554691658 		0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0