rs137852834, CEP290

N. diseases: 13
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.
Ciliopathies
CUI: C4277690
Disease: Ciliopathies
7 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.010 1.000 1 2019 2019
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
45 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 1.000 1 2015 2015
Abnormality of retinal pigmentation
CUI: C1862475
Disease: Abnormality of retinal pigmentation
5 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
BARDET-BIEDL SYNDROME 14 (disorder)
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
17 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
LEBER CONGENITAL AMAUROSIS 10 (disorder)
17 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
MECKEL SYNDROME, TYPE 4
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
26 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
Molar tooth sign on MRI
CUI: C1865060
Disease: Molar tooth sign on MRI
7 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
SENIOR-LOKEN SYNDROME 6
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0