SYN1, synapsin I, 6853

N. diseases: 80; N. variants: 16
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders ×
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: rs200533370
rs200533370 		0.882 0.160 X 47574285 missense variant T/C snv 1.1E-03 1.4E-02
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0