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 25360443 missense variant C/T snv 0.800 1.000 2 1998 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1.000 0.080 15 25360443 missense variant C/T snv 0.700 1.000 12 1990 2015