rs62640570, 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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05 0.700 1.000 5 2006 2016
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05 0.700 1.000 5 2006 2016
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05 0.700 1.000 5 2006 2016
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
45 0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05 0.700 1.000 1 2015 2015
MECKEL SYNDROME, TYPE 4
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
26 0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05 0.700 0