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 1.000 0.080 15 25375563 frameshift variant -/TCTT delins 0.700 1.000 1 2014 2014