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.
Abnormal corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
10 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
Congenital pes cavus
CUI: C0728829
Disease: Congenital pes cavus
15 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
32 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0