Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
5 0.882 0.160 11 124923996 missense variant G/A snv 0.800 1.000 1 2011 2011
Large for gestational age
CUI: C1848395
Disease: Large for gestational age
10 0.882 0.160 11 124923996 missense variant G/A snv 0.700 0
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION
5 0.882 0.160 11 124923996 missense variant G/A snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.882 0.160 11 124923996 missense variant G/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.160 11 124923996 missense variant G/A snv 0.700 0