rs886043303, 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.
Blindness
CUI: C0456909
Disease: Blindness
34 0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06 0.700 0
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06 0.700 0
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06 0.700 0
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06 0.700 0