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.
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.160 2 222297043 missense variant T/A snv 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.925 0.160 2 222297043 missense variant T/A snv 0.700 0
Telecanthus
CUI: C0423113
Disease: Telecanthus
14 0.925 0.160 2 222297043 missense variant T/A snv 0.700 0
Waardenburg Syndrome Type 1
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
46 0.925 0.160 2 222297043 missense variant T/A snv 0.700 0