Gene: CEP290 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1278679056
rs1278679056
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555201796
rs1555201796
CEP290
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555205328
rs1555205328
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555212150
rs1555212150
CEP290
CA 0.700 CausalMutation CLINVAR

dbSNP: rs1565822519
rs1565822519
CEP290
CT 0.700 CausalMutation CLINVAR

dbSNP: rs587779733
rs587779733
CEP290
G 0.700 CausalMutation CLINVAR

dbSNP: rs747323414
rs747323414
CEP290
T 0.700 GeneticVariation CLINVAR

dbSNP: rs757641323
rs757641323
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs760540562
rs760540562
CEP290
T 0.700 CausalMutation CLINVAR

dbSNP: rs766670248
rs766670248
CEP290
T 0.700 GeneticVariation CLINVAR

dbSNP: rs772170760
rs772170760
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs780624853
rs780624853
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs863225183
rs863225183
CEP290
C 0.700 CausalMutation CLINVAR

dbSNP: rs886039805
rs886039805
CEP290
T 0.700 CausalMutation CLINVAR

dbSNP: rs886043303
rs886043303
CEP290
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060499781
rs1060499781
CEP290
ACC 0.700 GeneticVariation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
dbSNP: rs1192112844
rs1192112844
CEP290
A 0.700 GeneticVariation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 16682973

2006
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 16682970

2006
dbSNP: rs201218801
rs201218801
CEP290
T 0.700 GeneticVariation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
dbSNP: rs281865192
rs281865192
CEP290
C 0.700 CausalMutation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
dbSNP: rs369523378
rs369523378
CEP290
C 0.700 GeneticVariation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
dbSNP: rs62638179
rs62638179
CEP290
A 0.700 CausalMutation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
dbSNP: rs62638180
rs62638180
CEP290
T 0.700 CausalMutation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
dbSNP: rs62640570
rs62640570
CEP290
AT 0.700 CausalMutation CLINVAR The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 16682973

2006