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.
Fundus Albipunctatus
CUI: C0311338
Disease: Fundus Albipunctatus
21 0.882 0.040 12 55721287 missense variant G/A;T snv 1.6E-05 0.710 1.000 14 1999 2017
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.882 0.040 12 55721287 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2001 2001
Pigmentary retinal dystrophy
CUI: C4551633
Disease: Pigmentary retinal dystrophy
4 0.882 0.040 12 55721287 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2001 2001