Disease: Vanishing white matter disease ×
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: rs104894425
rs104894425 		0.882 0.120 14 75005906 missense variant A/G snv 3.2E-05 7.0E-05
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs397514648
rs397514648 		0.925 0.040 14 75003365 missense variant T/A snv 7.2E-05 2.8E-05
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		Nervous System Diseases 0.010 1.000 1 2014 2014