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.
Megacolon
CUI: C0025160
Disease: Megacolon
9 0.925 0.200 22 37978136 splice acceptor variant C/T snv 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.925 0.200 22 37978136 splice acceptor variant C/T snv 0.700 0
WAARDENBURG SYNDROME, TYPE 4A
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
11 0.925 0.200 22 37978136 splice acceptor variant C/T snv 0.700 0