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.
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.925 0.160 10 76944829 missense variant T/C snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 0.160 10 76944829 missense variant T/C snv 0.700 0
Generalized Epilepsy and Paroxysmal Dyskinesia
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
4 0.925 0.160 10 76944829 missense variant T/C snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.925 0.160 10 76944829 missense variant T/C snv 0.700 0