Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503855
rs727503855
CEP290
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		A 0.700 CausalMutation CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411

2016
dbSNP: rs727503855
rs727503855
CEP290
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		A 0.700 CausalMutation CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050

2015
dbSNP: rs727503855
rs727503855
CEP290
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015