PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: Absence Seizures ×
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: rs758946412
rs758946412 		0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0