HMGA1, high mobility group AT-hook 1, 3159

N. diseases: 206; N. variants: 5
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: rs1150781
rs1150781 		6 34246545 missense variant C/A;G snv 9.0E-06; 0.85
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2011 2019
dbSNP: rs1150781
rs1150781 		6 34246545 missense variant C/A;G snv 9.0E-06; 0.85
CUI: C0489786
Disease: Height
Height 		0.700 1.000 2 2011 2011
dbSNP: rs35381162
rs35381162 		6 34243565 intron variant T/- delins 0.90 0.86
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs73744859
rs73744859 		6 34240413 intron variant T/C;G snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs146052672
rs146052672 		0.851 0.160 6 34242693 intron variant -/C delins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 1.000 4 2013 2017
dbSNP: rs139876191
rs139876191 		1.000 0.120 6 34242693 intron variant -/C delins 7.7E-02; 5.8E-06 5.2E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs146052672
rs146052672 		0.851 0.160 6 34242693 intron variant -/C delins
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs146052672
rs146052672 		0.851 0.160 6 34242693 intron variant -/C delins
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs146052672
rs146052672 		0.851 0.160 6 34242693 intron variant -/C delins
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs146052672
rs146052672 		0.851 0.160 6 34242693 intron variant -/C delins
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017