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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.120 10 248370 missense variant G/A snv 0.700 1.000 1 2014 2014
ESOPHAGITIS, EOSINOPHILIC, 1
CUI: C4551589
Disease: ESOPHAGITIS, EOSINOPHILIC, 1
1 0.851 0.120 10 248370 missense variant G/A snv 0.700 1.000 1 2014 2014
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 10 248370 missense variant G/A snv 0.700 1.000 1 2014 2014
MENTAL RETARDATION, AUTOSOMAL DOMINANT 30
CUI: C4015167
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30
10 0.851 0.120 10 248370 missense variant G/A snv 0.700 1.000 1 2014 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.120 10 248370 missense variant G/A snv 0.700 1.000 1 2014 2014
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.120 10 248370 missense variant G/A snv 0.700 1.000 1 2014 2014