Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834152
rs386834152
CEP290
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs587783017
rs587783017
CEP290
AT 0.700 CausalMutation CLINVAR Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. 25445212

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

2015
dbSNP: rs727503855
rs727503855
CEP290
A 0.700 CausalMutation CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050

2015
dbSNP: rs727503968
rs727503968
IQCB1
A 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases. 26274329

2015
dbSNP: rs756302731
rs756302731
CEP290
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs764309755
rs764309755
CEP290
C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405

2014
dbSNP: rs750962965
rs750962965
IQCB1
G 0.700 CausalMutation CLINVAR Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. 24625443

2014
dbSNP: rs776645403
rs776645403
CEP290
A 0.700 CausalMutation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 23954617

2013
dbSNP: rs1555225566
rs1555225566
CEP290
C 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs200844390
rs200844390
INVS
T 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs376879175
rs376879175
INVS
T 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs62638179
rs62638179
CEP290
A 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs727503968
rs727503968
IQCB1
A 0.700 CausalMutation CLINVAR Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome. 24674142

2013
dbSNP: rs747835249
rs747835249
CEP290
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: rs750962965
rs750962965
IQCB1
G 0.700 CausalMutation CLINVAR Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis. 23446637

2013
dbSNP: rs751527253
rs751527253
NPHP3 ; NPHP3-ACAD11
C 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs878855332
rs878855332
INVS
T 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs878855333
rs878855333
INVS
G 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
dbSNP: rs1170451277
rs1170451277
CEP290
A 0.700 CausalMutation CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400

2012
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. 22355252

2012
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042

2012
dbSNP: rs281865192
rs281865192
CEP290
C 0.700 CausalMutation CLINVAR AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation. 23344081

2012