rs376493409, CEP290

N. diseases: 12
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 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 1.000 2 2007 2017
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 1.000 2 2007 2017
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 1.000 2 2007 2017
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
45 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 1.000 1 2015 2015
BARDET-BIEDL SYNDROME 14 (disorder)
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
17 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0
Cystic renal dysplasia
CUI: C1834931
Disease: Cystic renal dysplasia
4 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0
LEBER CONGENITAL AMAUROSIS 10 (disorder)
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
17 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0
MECKEL SYNDROME, TYPE 4
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
26 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0
Occipital Encephalocele
CUI: C0014067
Disease: Occipital Encephalocele
9 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0
SENIOR-LOKEN SYNDROME 6
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
13 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0