Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747835249
rs747835249
CEP290
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		T 0.700 CausalMutation CLINVAR Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 23847139

2013
dbSNP: rs747835249
rs747835249
CEP290
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		T 0.700 CausalMutation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
dbSNP: rs747835249
rs747835249
CEP290
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		T 0.700 CausalMutation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
dbSNP: rs747835249
rs747835249
CEP290
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		T 0.700 CausalMutation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006