rs386834152, CEP290

N. diseases: 7
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 0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 0.700 1.000 1 2015 2015
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
45 0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 0.700 1.000 1 2015 2015
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 0.700 1.000 1 2019 2019
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 0.700 1.000 1 2015 2015
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 0.700 1.000 1 2015 2015
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 0.700 1.000 1 2019 2019
MECKEL SYNDROME, TYPE 4
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
26 0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 0.700 0