TJP2, tight junction protein 2, 9414

N. diseases: 37; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918299
rs121918299
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C1843139
Disease:
Hypercholanemia, Familial 		0.800 GeneticVariation UNIPROT Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 12704386 2003
dbSNP: rs121918299
rs121918299
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C1843139
Disease:
Hypercholanemia, Familial 		C 0.800 CausalMutation CLINVAR
dbSNP: rs11145488
rs11145488
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C0027092
Disease:
Myopia 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs1554669525
rs1554669525
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		T 0.700 CausalMutation CLINVAR Mutations in TJP2 cause progressive cholestatic liver disease. 24614073 2014
dbSNP: rs11145465
rs11145465
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C4025843
Disease:
Abnormality of refraction 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 23396134 2013
dbSNP: rs11145465
rs11145465
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C0034951
Disease:
Refractive Errors 		A 0.700 GeneticVariation GWASDB Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 23396134 2013
dbSNP: rs1057518679
rs1057518679
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060499649
rs1060499649
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1278244243
rs1278244243
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C1843139
Disease:
Hypercholanemia, Familial 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1278244243
rs1278244243
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554660803
rs1554660803
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587777518
rs587777518
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587777519
rs587777519
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587777520
rs587777520
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587777521
rs587777521
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs776869985
rs776869985
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs864321695
rs864321695
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs864321697
rs864321697
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		C 0.700 CausalMutation CLINVAR
dbSNP: rs886041948
rs886041948
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
CUI: C2931067
Disease:
Cholestasis, progressive familial intrahepatic 4 		GACCTC 0.700 GeneticVariation CLINVAR