Disease: Nephronophthisis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758593134
rs758593134
Entrez Id: 80184;160418
Gene Symbol: CEP290;TMTC3
CEP290;TMTC3
CUI: C0687120
Disease:
Nephronophthisis 		T 0.700 GeneticVariation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115 2010