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.
SMITH-KINGSMORE SYNDROME
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
7 0.882 0.160 1 11144735 missense variant C/T snv 0.800 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.882 0.160 1 11144735 missense variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.160 1 11144735 missense variant C/T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.882 0.160 1 11144735 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 1 11144735 missense variant C/T snv 0.700 0