rs575767207, CEP290

N. diseases: 5
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 0.280 12 88079112 stop gained G/A;C snv 2.6E-05 0.700 1.000 1 2015 2015
BARDET-BIEDL SYNDROME 14 (disorder)
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
17 0.827 0.280 12 88079112 stop gained G/A;C snv 2.6E-05 0.700 0
LEBER CONGENITAL AMAUROSIS 10 (disorder)
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
17 0.827 0.280 12 88079112 stop gained G/A;C snv 2.6E-05 0.700 0
MECKEL SYNDROME, TYPE 4
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
26 0.827 0.280 12 88079112 stop gained G/A;C snv 2.6E-05 0.700 0
SENIOR-LOKEN SYNDROME 6
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
13 0.827 0.280 12 88079112 stop gained G/A;C snv 2.6E-05 0.700 0