rs886039805, CEP290

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
0.700 CausalMutation CLINVAR
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR
Neonatal Death
CUI: C0410916
Disease: Neonatal Death
0.700 CausalMutation CLINVAR
Occipital Encephalocele
CUI: C0014067
Disease: Occipital Encephalocele
0.700 CausalMutation CLINVAR
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
0.700 CausalMutation CLINVAR