rs1057517694, CEP78

N. diseases: 3
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.
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.882 0.200 9 78248290 splice acceptor variant G/A snv 0.700 0
CONE-ROD DYSTROPHY AND HEARING LOSS
CUI: C4310657
Disease: CONE-ROD DYSTROPHY AND HEARING LOSS
7 0.882 0.200 9 78248290 splice acceptor variant G/A snv 0.700 0
Sensorineural Hearing Loss (disorder)
111 0.882 0.200 9 78248290 splice acceptor variant G/A snv 0.700 0