rs771454167, CEP290

N. diseases: 6
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.
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
45 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 1.000 1 2015 2015
Abnormality of retinal pigmentation
CUI: C1862475
Disease: Abnormality of retinal pigmentation
5 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0
BARDET-BIEDL SYNDROME 14 (disorder)
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
17 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0
SENIOR-LOKEN SYNDROME 6
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
13 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0