PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: 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: rs1278838206
rs1278838206 		0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016