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: rs113994022
rs113994022 		0.925 0.040 1 44978349 missense variant G/A snv 8.8E-05 1.2E-04
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		Nervous System Diseases 0.020 1.000 2 2012 2014
dbSNP: rs141988913
rs141988913 		0.925 0.040 1 44978337 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		Nervous System Diseases 0.010 1.000 1 2012 2012