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.
Congenital muscular hypertrophy-cerebral syndrome
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
50 0.882 0.200 X 53405268 stop gained C/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.200 X 53405268 stop gained C/A snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.882 0.200 X 53405268 stop gained C/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.200 X 53405268 stop gained C/A snv 0.700 0
Thick eyebrow
CUI: C1853487
Disease: Thick eyebrow
13 0.882 0.200 X 53405268 stop gained C/A snv 0.700 0