Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764309755
rs764309755
CEP290
C 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
dbSNP: rs764309755
rs764309755
CEP290
C 0.700 CausalMutation CLINVAR Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 21153841

2011
dbSNP: rs764309755
rs764309755
CEP290
C 0.700 CausalMutation CLINVAR High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. 17409309

2007
dbSNP: rs764309755
rs764309755
CEP290
C 0.700 CausalMutation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
dbSNP: rs764309755
rs764309755
CEP290
C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs760915898
rs760915898
CEP290
T 0.700 GeneticVariation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
dbSNP: rs760915898
rs760915898
CEP290
T 0.700 GeneticVariation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
dbSNP: rs760915898
rs760915898
CEP290
T 0.700 GeneticVariation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
dbSNP: rs760540562
rs760540562
CEP290
T 0.700 CausalMutation CLINVAR

dbSNP: rs758593134
rs758593134
CEP290 ; TMTC3
T 0.700 GeneticVariation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
dbSNP: rs758498695
rs758498695
NPHP3 ; NPHP3-ACAD11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs758238787
rs758238787
NPHP3 ; NPHP3-ACAD11
T 0.700 CausalMutation CLINVAR

dbSNP: rs757641323
rs757641323
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs757609119
rs757609119
CEP290
T 0.700 CausalMutation CLINVAR CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 17564967

2007
dbSNP: rs756302731
rs756302731
CEP290
T 0.700 CausalMutation CLINVAR High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. 17409309

2007
dbSNP: rs756302731
rs756302731
CEP290
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs756302731
rs756302731
CEP290
T 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
dbSNP: rs756302731
rs756302731
CEP290
T 0.700 CausalMutation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
dbSNP: rs751527253
rs751527253
NPHP3 ; NPHP3-ACAD11
C 0.700 CausalMutation CLINVAR Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 20007846

2010
dbSNP: rs751527253
rs751527253
NPHP3 ; NPHP3-ACAD11
C 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
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: rs751527253
rs751527253
NPHP3 ; NPHP3-ACAD11
C 0.700 CausalMutation CLINVAR Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 18371931

2008
dbSNP: rs750962965
rs750962965
IQCB1
G 0.700 CausalMutation CLINVAR IQCB1 mutations in patients with leber congenital amaurosis. 20881296

2011
dbSNP: rs750962965
rs750962965
IQCB1
G 0.700 CausalMutation CLINVAR High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. 23188109

2012
dbSNP: rs750962965
rs750962965
IQCB1
G 0.700 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017