rs137853105
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
BARDET-BIEDL SYNDROME 13
0.800
GeneticVariation
UNIPROT
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
18327255
2008
rs137853105
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
BARDET-BIEDL SYNDROME 13
C
0.800
CausalMutation
CLINVAR
rs185405908
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Eosinophil count procedure
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs62083740
MKS1;LOC105371841
Blood Protein Measurement
C
0.700
GeneticVariation
GWASCAT
Co-regulatory networks of human serum proteins link genetics to disease.
30072576
2018
rs386834048
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Meckel-Gruber syndrome
T
0.700
CausalMutation
CLINVAR
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
28497568
2017
rs386834048
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Familial aplasia of the vermis
T
0.700
CausalMutation
CLINVAR
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
28497568
2017
rs766392300
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Meckel-Gruber syndrome
C
0.700
CausalMutation
CLINVAR
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
28497568
2017
rs766392300
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Familial aplasia of the vermis
C
0.700
CausalMutation
CLINVAR
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
28497568
2017
rs1114167302
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Familial aplasia of the vermis
A
0.700
GeneticVariation
CLINVAR
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
27377014
2016
rs201845154
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Meckel syndrome type 1
0.700
GeneticVariation
UNIPROT
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
26490104
2016
rs386834043
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Familial aplasia of the vermis
G
0.700
CausalMutation
CLINVAR
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
27377014
2016
rs386834048
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Familial aplasia of the vermis
T
0.700
CausalMutation
CLINVAR
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
26490104
2016
rs386834048
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Meckel-Gruber syndrome
T
0.700
CausalMutation
CLINVAR
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
26490104
2016
rs754279998
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
BARDET-BIEDL SYNDROME 13
T
0.700
GeneticVariation
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
rs754279998
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Meckel syndrome type 1
T
0.700
GeneticVariation
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
rs754279998
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
JOUBERT SYNDROME 28
T
0.700
GeneticVariation
CLINVAR
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
26490104
2016
rs754279998
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
BARDET-BIEDL SYNDROME 13
T
0.700
GeneticVariation
CLINVAR
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
26490104
2016
rs754279998
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Meckel syndrome type 1
T
0.700
GeneticVariation
CLINVAR
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
26490104
2016
rs754279998
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
JOUBERT SYNDROME 28
T
0.700
GeneticVariation
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
rs754279998
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Meckel-Gruber syndrome
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
rs754279998
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Familial aplasia of the vermis
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
rs863225205
LPO;MKS1;LOC105371841
Meckel syndrome type 1
0.700
GeneticVariation
UNIPROT
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
26490104
2016
rs863225208
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Meckel syndrome type 1
0.700
GeneticVariation
UNIPROT
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
26490104
2016
rs863225210
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Meckel syndrome type 1
0.700
GeneticVariation
UNIPROT
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
26490104
2016
rs111786708
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
Chronic Obstructive Airway Disease
C
0.700
GeneticVariation
GWASCAT
A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.
26634245
2015