Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
0.710 GeneticVariation BEFREE Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation. 24876116

2014
dbSNP: rs587777353
rs587777353
PAM16 ; GLIS2
0.710 GeneticVariation BEFREE The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. 26374130

2016
dbSNP: rs1060499781
rs1060499781
CEP290
ACC 0.700 GeneticVariation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
dbSNP: rs1060499781
rs1060499781
CEP290
ACC 0.700 GeneticVariation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
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 Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
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: rs1192112844
rs1192112844
CEP290
A 0.700 GeneticVariation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
dbSNP: rs1322951938
rs1322951938
INVS
C 0.700 GeneticVariation CLINVAR Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 12872123

2003
dbSNP: rs150681845
rs150681845
INTU
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553508246
rs1553508246
TTC21B
C 0.700 GeneticVariation CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341

2011
dbSNP: rs1554555063
rs1554555063
TMEM67
A 0.700 GeneticVariation CLINVAR

dbSNP: rs201218801
rs201218801
CEP290
T 0.700 GeneticVariation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
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: rs201218801
rs201218801
CEP290
T 0.700 GeneticVariation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
dbSNP: rs369523378
rs369523378
CEP290
C 0.700 GeneticVariation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
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: rs369523378
rs369523378
CEP290
C 0.700 GeneticVariation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
dbSNP: rs372607453
rs372607453
RBM48
G 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 26489029

2016
dbSNP: rs549662742
rs549662742
PRPF40B ; FAM186B
C 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 26489029

2016
dbSNP: rs61893682
rs61893682
INCENP
C 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 26489029

2016
dbSNP: rs747323414
rs747323414
CEP290
T 0.700 GeneticVariation CLINVAR

dbSNP: rs758498695
rs758498695
NPHP3 ; NPHP3-ACAD11
T 0.700 GeneticVariation 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: rs760915898
rs760915898
CEP290
T 0.700 GeneticVariation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006