Gene: CEP290 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834158
rs386834158
CEP290
C 0.700 CausalMutation CLINVAR CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 17564967

2007
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs371496675
rs371496675
CEP290
T 0.700 GeneticVariation CLINVAR

dbSNP: rs747835249
rs747835249
CEP290
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853361
rs878853361
CEP290
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853362
rs878853362
CEP290
C 0.700 GeneticVariation CLINVAR