Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964994
rs121964994
INVS
T 0.700 CausalMutation 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: 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: rs137852919
rs137852919
NPHP4
A 0.700 CausalMutation CLINVAR Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. 15776426

2005
dbSNP: rs369925690
rs369925690
PKHD1
C 0.700 CausalMutation CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161

2005
dbSNP: rs369925690
rs369925690
PKHD1
C 0.700 CausalMutation CLINVAR Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 15698423

2005
dbSNP: rs745770404
rs745770404
PKHD1
T 0.700 CausalMutation CLINVAR Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 15698423

2005
dbSNP: rs745770404
rs745770404
PKHD1
T 0.700 CausalMutation CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161

2005
dbSNP: rs750962965
rs750962965
IQCB1
G 0.700 CausalMutation CLINVAR Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 15723066

2005
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
dbSNP: rs747835249
rs747835249
CEP290
T 0.700 CausalMutation 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 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
dbSNP: rs766524637
rs766524637
NPHP1
GT 0.700 CausalMutation CLINVAR Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy. 16762963

2006
dbSNP: rs965522059
rs965522059
CEP290
T 0.700 CausalMutation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
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: 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: rs1213286417
rs1213286417
CEP290
C 0.700 CausalMutation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007