rs1057518822, CEP290

N. diseases: 4
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 1.000 0.080 12 88102888 stop gained G/A snv 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 1.000 0.080 12 88102888 stop gained G/A snv 0.700 0
Molar tooth sign on MRI
CUI: C1865060
Disease: Molar tooth sign on MRI
7 1.000 0.080 12 88102888 stop gained G/A snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 1.000 0.080 12 88102888 stop gained G/A snv 0.700 0