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.
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
135 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0