POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Status Epilepticus ×
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: rs267606959
rs267606959 		0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2010 2011
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008