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.
Deafness, Autosomal Dominant 9
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
10 0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06 0.810 1.000 14 1998 2014
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2007 2007
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2011 2011