Source: CURATED ×
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.
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
172 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
58 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
36 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
48 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
44 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0