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.
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0