Disease: Mental Retardation, X-Linked, with Epilepsy ×
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: rs1057519331
rs1057519331 		1.000 0.080 X 40589122 splice region variant T/A snv
CUI: C1845543
Disease: Mental Retardation, X-Linked, with Epilepsy
Mental Retardation, X-Linked, with Epilepsy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121918521
rs121918521 		0.925 0.080 X 40597269 missense variant C/T snv
CUI: C1845543
Disease: Mental Retardation, X-Linked, with Epilepsy
Mental Retardation, X-Linked, with Epilepsy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0