EPM2A, EPM2A glucan phosphatase, laforin, 7957

N. diseases: 87; N. variants: 20
Disease: Myoclonic Epilepsies, Progressive ×
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: rs104893950
rs104893950 		0.925 0.080 6 145627691 stop gained G/A;C snv 7.7E-05
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		Nervous System Diseases 0.700 1.000 3 1998 2014
dbSNP: rs781291421
rs781291421 		1.000 0.040 6 145635468 stop gained C/A;T snv 1.2E-05; 2.8E-05
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		Nervous System Diseases 0.700 1.000 1 2004 2004