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.
Blindness
CUI: C0456909
Disease: Blindness
34 0.925 0.080 8 18083991 missense variant T/G snv 4.5E-06 7.0E-06 0.010 1.000 1 2018 2018
Photoreceptor degeneration
CUI: C1998028
Disease: Photoreceptor degeneration
16 0.925 0.080 8 18083991 missense variant T/G snv 4.5E-06 7.0E-06 0.010 1.000 1 2018 2018
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.080 8 18083991 missense variant T/G snv 4.5E-06 7.0E-06 0.010 1.000 1 2018 2018
Unspecified visual loss
CUI: C3665346
Disease: Unspecified visual loss
11 0.925 0.080 8 18083991 missense variant T/G snv 4.5E-06 7.0E-06 0.010 1.000 1 2018 2018