Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs965522059
rs965522059
CEP290
T 0.700 CausalMutation CLINVAR Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. 17617513

2007
dbSNP: rs965522059
rs965522059
CEP290
T 0.700 CausalMutation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
dbSNP: rs965522059
rs965522059
CEP290
T 0.700 CausalMutation CLINVAR Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 21153841

2011
dbSNP: rs965522059
rs965522059
CEP290
T 0.700 CausalMutation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
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: rs955853011
rs955853011
ZNF253
0.010 GeneticVariation BEFREE The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. 26374130

2016
dbSNP: rs886043303
rs886043303
CEP290
G 0.700 CausalMutation CLINVAR

dbSNP: rs878855335
rs878855335
PAM16 ; GLIS2
T 0.700 CausalMutation CLINVAR

dbSNP: rs878855334
rs878855334
CEP290
A 0.700 CausalMutation CLINVAR

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: 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: rs863225183
rs863225183
CEP290
C 0.700 CausalMutation CLINVAR

dbSNP: rs780624853
rs780624853
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs780225183
rs780225183
CEP290
A 0.700 CausalMutation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
dbSNP: rs780225183
rs780225183
CEP290
A 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
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: rs776645403
rs776645403
CEP290
A 0.700 CausalMutation CLINVAR Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. 22355252

2012
dbSNP: rs774456004
rs774456004
PIAS1
T 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: rs773521620
rs773521620
NPHP3 ; NPHP3-AS1 ; NPHP3-ACAD11
C 0.700 CausalMutation CLINVAR

dbSNP: rs772170760
rs772170760
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs771215577
rs771215577
NPHP3 ; NPHP3-ACAD11
AT 0.700 CausalMutation CLINVAR

dbSNP: rs771148519
rs771148519
WDR19
G 0.700 CausalMutation CLINVAR

dbSNP: rs766670248
rs766670248
CEP290
T 0.700 GeneticVariation CLINVAR

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: rs765263671
rs765263671
NPHP1
A 0.700 CausalMutation CLINVAR Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 18076122

2008