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: rs730882241
rs730882241 		1.000 1 230995876 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C4310762
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 		0.800 0
dbSNP: rs150619347
rs150619347 		1.000 1 230988440 splice donor variant G/A snv 9.5E-06; 9.5E-06
CUI: C4310762
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 		0.700 0
dbSNP: rs730882241
rs730882241 		1.000 1 230995876 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882241
rs730882241 		1.000 1 230995876 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		Pathological Conditions, Signs and Symptoms 0.700 0