rs760915898, CEP290

N. diseases: 8
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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05 0.700 1.000 3 2006 2010
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05 0.700 1.000 3 2006 2010
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05 0.700 1.000 3 2006 2010
BARDET-BIEDL SYNDROME 14 (disorder)
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
17 0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05 0.700 0
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
45 0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05 0.700 0
LEBER CONGENITAL AMAUROSIS 10 (disorder)
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
17 0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05 0.700 0
MECKEL SYNDROME, TYPE 4
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
26 0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05 0.700 0
SENIOR-LOKEN SYNDROME 6
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
13 0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05 0.700 0