rs747835249, CEP290

N. diseases: 4
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 0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05 0.700 1.000 4 2006 2013
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05 0.700 1.000 4 2006 2013
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05 0.700 1.000 4 2006 2013
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05 0.700 0