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: 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