Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1213286417
rs1213286417
CEP290
C 0.700 CausalMutation CLINVAR Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. 29588463

2018
dbSNP: rs539400286
rs539400286
CEP290
A 0.700 CausalMutation CLINVAR Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. 29398085

2018
dbSNP: rs376493409
rs376493409
CEP290
A 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
dbSNP: rs386834048
rs386834048
MKS1
T 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
dbSNP: rs386834202
rs386834202
TMEM67
C 0.700 CausalMutation CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631

2017
dbSNP: rs62638179
rs62638179
CEP290
A 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
dbSNP: rs766392300
rs766392300
MKS1
C 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
dbSNP: rs775883520
rs775883520
TMEM67
G 0.700 CausalMutation CLINVAR A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. 28719906

2017
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Development of end-stage renal disease at a young age in two cases with Joubert syndrome. 25818971

2016
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947

2016
dbSNP: rs386834048
rs386834048
MKS1
T 0.700 CausalMutation CLINVAR MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104

2016
dbSNP: rs386834180
rs386834180
TMEM67
C 0.700 CausalMutation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329

2016
dbSNP: rs386834202
rs386834202
TMEM67
C 0.700 CausalMutation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329

2016
dbSNP: rs62640570
rs62640570
CEP290
AT 0.700 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
dbSNP: rs727503855
rs727503855
CEP290
A 0.700 CausalMutation CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411

2016
dbSNP: rs754279998
rs754279998
MKS1
T 0.700 CausalMutation CLINVAR Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 27570071

2016
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: rs764309755
rs764309755
CEP290
C 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
dbSNP: rs765468645
rs765468645
TMEM67
T 0.700 GeneticVariation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329

2016
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: rs797045437
rs797045437
CC2D2A
T 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
dbSNP: rs863225235
rs863225235
TMEM67
A 0.700 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
dbSNP: rs121918198
rs121918198
RPGRIP1L
G 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs121918204
rs121918204
RPGRIP1L
A 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 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015