MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111786708
rs111786708
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3548479
Disease:
response to bronchodilator 		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
dbSNP: rs140543894
rs140543894
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		G 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs140543894
rs140543894
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3548479
Disease:
response to bronchodilator 		G 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs146873050
rs146873050
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0024117
Disease:
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
dbSNP: rs146873050
rs146873050
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3548479
Disease:
response to bronchodilator 		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
dbSNP: rs1555600644
rs1555600644
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		T 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		T 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		T 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		T 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs773269657
rs773269657
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs773684291
rs773684291
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs779953982
rs779953982
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225204
rs863225204
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		CG 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225205
rs863225205
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225206
rs863225206
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225207
rs863225207
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225208
rs863225208
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225209
rs863225209
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		CG 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225210
rs863225210
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		T 0.700 GeneticVariation CLINVAR Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014