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 Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.851 0.040 12 13608755 missense variant C/T snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
12 0.851 0.040 12 13608755 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.040 12 13608755 missense variant C/T snv 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.851 0.040 12 13608755 missense variant C/T snv 0.700 0
Hyperextensible skin
CUI: C0241074
Disease: Hyperextensible skin
11 0.851 0.040 12 13608755 missense variant C/T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
21 0.851 0.040 12 13608755 missense variant C/T snv 0.700 0