TBC1D4, TBC1 domain family member 4, 9882

N. diseases: 17; N. variants: 12
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs9573567
rs9573567 		13 75483247 upstream gene variant G/A snv 6.8E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 3 2016 2019
dbSNP: rs7330796
rs7330796 		13 75324027 intron variant T/C snv 0.76
CUI: C0017741
Disease: Glucose tolerance test
Glucose tolerance test 		0.700 1.000 1 2014 2014
dbSNP: rs9565164
rs9565164 		1.000 0.120 13 75465240 intron variant T/C snv 4.7E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9565165
rs9565165 		1.000 0.120 13 75478654 intron variant G/A snv 4.7E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9573545
rs9573545 		1.000 0.120 13 75457830 intron variant G/A snv 2.5E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9573546
rs9573546 		1.000 0.120 13 75458397 intron variant G/A snv 3.2E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9573553
rs9573553 		1.000 0.120 13 75465192 intron variant G/A snv 4.7E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9573563
rs9573563 		13 75480960 intron variant G/C snv 5.9E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs9573563
rs9573563 		13 75480960 intron variant G/C snv 5.9E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs9573567
rs9573567 		13 75483247 upstream gene variant G/A snv 6.8E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs9573569
rs9573569 		13 75484835 upstream gene variant T/C snv 0.32
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs199560195
rs199560195 		13 75299364 missense variant C/A;T snv 3.6E-05 2.8E-05
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs61736969
rs61736969 		1.000 13 75324385 stop gained G/A;C snv 8.0E-06; 1.9E-03
CUI: C4015183
Disease: DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5
DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5 		0.700 0
dbSNP: rs587777260
rs587777260 		0.925 0.080 13 75359852 stop gained G/A;T snv 4.0E-06
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.020 1.000 2 2009 2013
dbSNP: rs587777260
rs587777260 		0.925 0.080 13 75359852 stop gained G/A;T snv 4.0E-06
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009