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 0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06 0.710 1.000 1 2005 2005
Corneal striae
CUI: C0948285
Disease: Corneal striae
2 0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
Progressive sensorineural hearing impairment
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
28 0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
30 0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019