rs886039805, 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.
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.925 0.120 12 88129872 frameshift variant AA/- delins 0.700 0
Neonatal Death
CUI: C0410916
Disease: Neonatal Death
10 0.925 0.120 12 88129872 frameshift variant AA/- delins 0.700 0
Occipital Encephalocele
CUI: C0014067
Disease: Occipital Encephalocele
9 0.925 0.120 12 88129872 frameshift variant AA/- delins 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.925 0.120 12 88129872 frameshift variant AA/- delins 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.925 0.120 12 88129872 frameshift variant AA/- delins 0.700 0