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.
Cataract
CUI: C0086543
Disease: Cataract
124 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0
Severe myopia
CUI: C0271183
Disease: Severe myopia
116 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0