TBC1D4, TBC1 domain family member 4, 9882

N. diseases: 17; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9573567
rs9573567
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9573563
rs9573563
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs9573563
rs9573563
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs9573567
rs9573567
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs9573567
rs9573567
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs9573567
rs9573567
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs9573569
rs9573569
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs7330796
rs7330796
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0017741
Disease:
Glucose tolerance test 		0.700 GeneticVariation GWASCAT A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes. 25043022 2014
dbSNP: rs9565164
rs9565164
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0011884
Disease:
Diabetic Retinopathy 		C 0.700 GeneticVariation GWASDB Genome-wide association study in a Chinese population with diabetic retinopathy. 23562823 2013
dbSNP: rs9565165
rs9565165
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0011884
Disease:
Diabetic Retinopathy 		A 0.700 GeneticVariation GWASDB Genome-wide association study in a Chinese population with diabetic retinopathy. 23562823 2013
dbSNP: rs9573545
rs9573545
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0011884
Disease:
Diabetic Retinopathy 		A 0.700 GeneticVariation GWASDB Genome-wide association study in a Chinese population with diabetic retinopathy. 23562823 2013
dbSNP: rs9573546
rs9573546
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0011884
Disease:
Diabetic Retinopathy 		A 0.700 GeneticVariation GWASDB Genome-wide association study in a Chinese population with diabetic retinopathy. 23562823 2013
dbSNP: rs9573553
rs9573553
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0011884
Disease:
Diabetic Retinopathy 		A 0.700 GeneticVariation GWASDB Genome-wide association study in a Chinese population with diabetic retinopathy. 23562823 2013
dbSNP: rs199560195
rs199560195
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0021655
Disease:
Insulin Resistance 		T 0.700 CausalMutation CLINVAR
dbSNP: rs61736969
rs61736969
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C4015183
Disease:
DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777260
rs587777260
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0020459
Disease:
Hyperinsulinism 		0.020 GeneticVariation BEFREE In humans, a truncation mutation (R363X) in one allele of AS160 decreased the expression of the protein and caused severe postprandial hyperinsulinaemia during puberty. 23078342 2013
dbSNP: rs587777260
rs587777260
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0020459
Disease:
Hyperinsulinism 		0.020 GeneticVariation BEFREE A female presenting at age 11 years with acanthosis nigricans and extreme postprandial hyperinsulinemia was heterozygous for a premature stop mutation (R363X) in TBC1D4. 19470471 2009
dbSNP: rs587777260
rs587777260
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0000889
Disease:
Acanthosis Nigricans 		0.010 GeneticVariation BEFREE A female presenting at age 11 years with acanthosis nigricans and extreme postprandial hyperinsulinemia was heterozygous for a premature stop mutation (R363X) in TBC1D4. 19470471 2009