Gene: MKS1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs766392300
rs766392300
MKS1
C 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
dbSNP: rs1114167302
rs1114167302
MKS1
A 0.700 GeneticVariation CLINVAR MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 27377014

2016
dbSNP: rs386834043
rs386834043
MKS1
G 0.700 CausalMutation CLINVAR MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 27377014

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

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: rs1555600644
rs1555600644
MKS1
C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs386834048
rs386834048
MKS1
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs754279998
rs754279998
MKS1
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs773269657
rs773269657
MKS1
A 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs773684291
rs773684291
MKS1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs779953982
rs779953982
MKS1
A 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225204
rs863225204
MKS1
CG 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225205
rs863225205
LPO ; MKS1 ; LOC105371841
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225206
rs863225206
MKS1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225207
rs863225207
MKS1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225208
rs863225208
MKS1
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225209
rs863225209
MKS1
CG 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225210
rs863225210
MKS1
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs754279998
rs754279998
MKS1
T 0.700 CausalMutation CLINVAR Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560

2014
dbSNP: rs375170572
rs375170572
LPO ; MKS1 ; LOC105371841
G 0.700 GeneticVariation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051

2007
dbSNP: rs386834043
rs386834043
MKS1
G 0.700 CausalMutation CLINVAR A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. 17935508

2007
dbSNP: rs386834043
rs386834043
MKS1
G 0.700 CausalMutation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051

2007
dbSNP: rs386834043
rs386834043
MKS1
G 0.700 CausalMutation CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820

2007
dbSNP: rs386834043
rs386834043
MKS1
G 0.700 CausalMutation CLINVAR Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 17437276

2007