Disease: Progressive encephalopathy ×
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: rs1448259271
rs1448259271 		0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		Nervous System Diseases 0.700 0