Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367543061
rs367543061
CPLANE1
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546

2015
dbSNP: rs367543061
rs367543061
CPLANE1
A 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs367543061
rs367543061
CPLANE1
0.800 GeneticVariation UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439

2012
dbSNP: rs367543061
rs367543061
CPLANE1
0.800 GeneticVariation UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
dbSNP: rs1554084360
rs1554084360
CPLANE1
C 0.700 CausalMutation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670

2018
dbSNP: rs200444162
rs200444162
CPLANE1
T 0.700 GeneticVariation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670

2018
dbSNP: rs606231259
rs606231259
CPLANE1
A 0.700 CausalMutation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670

2018
dbSNP: rs759649053
rs759649053
CPLANE1
C 0.700 GeneticVariation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670

2018
dbSNP: rs770770257
rs770770257
CPLANE1
C 0.700 CausalMutation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670

2018
dbSNP: rs794727154
rs794727154
CPLANE1
A 0.700 CausalMutation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670

2018
dbSNP: rs149170427
rs149170427
CPLANE1
A 0.700 GeneticVariation CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631

2017
dbSNP: rs149170427
rs149170427
CPLANE1
A 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: rs606231259
rs606231259
CPLANE1
A 0.700 CausalMutation CLINVAR Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 28289185

2017
dbSNP: rs777686211
rs777686211
CPLANE1
T 0.700 CausalMutation CLINVAR Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. 28125082

2017
dbSNP: rs149170427
rs149170427
CPLANE1
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis of 30 families with Joubert syndrome. 27434533

2016
dbSNP: rs149170427
rs149170427
CPLANE1
A 0.700 CausalMutation CLINVAR Molecular genetic analysis of 30 families with Joubert syndrome. 27434533

2016
dbSNP: rs606231259
rs606231259
CPLANE1
A 0.700 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
dbSNP: rs139675596
rs139675596
CPLANE1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs141153181
rs141153181
CPLANE1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs141507441
rs141507441
CPLANE1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs145520487
rs145520487
CPLANE1
G 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs147416429
rs147416429
CPLANE1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs1554064102
rs1554064102
CPLANE1
GC 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs373704405
rs373704405
CPLANE1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs374144275
rs374144275
CPLANE1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015