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: rs137853105
rs137853105
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1376664664
rs1376664664
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1376664664
rs1376664664
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1376664664
rs1376664664
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs137853105
rs137853105
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0152427
Disease:
Polydactyly 		C 0.700 CausalMutation CLINVAR
dbSNP: rs137853105
rs137853105
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0028738
Disease:
Nystagmus 		C 0.700 CausalMutation CLINVAR
dbSNP: rs137853105
rs137853105
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1488635637
rs1488635637
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1488635637
rs1488635637
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1488635637
rs1488635637
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1488635637
rs1488635637
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1488635637
rs1488635637
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0028738
Disease:
Nystagmus 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1488635637
rs1488635637
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0152427
Disease:
Polydactyly 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555596845
rs1555596845
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555596845
rs1555596845
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555596845
rs1555596845
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555596943
rs1555596943
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555596943
rs1555596943
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555596943
rs1555596943
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555599412
rs1555599412
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555599412
rs1555599412
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555601787
rs1555601787
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555601787
rs1555601787
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C3714506
Disease:
Meckel syndrome type 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555601787
rs1555601787
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs199874059
rs199874059
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		T 0.700 CausalMutation CLINVAR