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.
Usher Syndrome, Type III
CUI: C1568248
Disease: Usher Syndrome, Type III
24 0.827 0.200 3 150972591 missense variant A/C;G snv 8.0E-05; 4.0E-06 0.810 1.000 6 2001 2012
Adult onset sensorineural hearing impairment
CUI: C4021534
Disease: Adult onset sensorineural hearing impairment
2 0.827 0.200 3 150972591 missense variant A/C;G snv 8.0E-05; 4.0E-06 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.827 0.200 3 150972591 missense variant A/C;G snv 8.0E-05; 4.0E-06 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.827 0.200 3 150972591 missense variant A/C;G snv 8.0E-05; 4.0E-06 0.010 1.000 1 2004 2004
Usher syndrome, type 1A
CUI: C2931205
Disease: Usher syndrome, type 1A
2 0.827 0.200 3 150972591 missense variant A/C;G snv 8.0E-05; 4.0E-06 0.010 1.000 1 2004 2004
Usher Syndrome, Type I
CUI: C1568247
Disease: Usher Syndrome, Type I
168 0.827 0.200 3 150972591 missense variant A/C;G snv 8.0E-05; 4.0E-06 0.010 1.000 1 2004 2004