AHSG, alpha 2-HS glycoprotein, 197

N. diseases: 204; N. variants: 18
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: rs1071592
rs1071592 		1.000 0.080 3 186620636 synonymous variant A/C snv 0.76 0.77
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2005 2009
dbSNP: rs4917
rs4917 		0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2009 2015
dbSNP: rs4917
rs4917 		0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2005 2015
dbSNP: rs4918
rs4918 		0.763 0.400 3 186620593 missense variant G/A;C snv 0.67
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2005 2016
dbSNP: rs4918
rs4918 		0.763 0.400 3 186620593 missense variant G/A;C snv 0.67
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2005 2016
dbSNP: rs201849460
rs201849460 		1.000 0.200 3 186620776 missense variant G/A;T snv 9.2E-05; 4.0E-06
CUI: C1859878
Disease: Alopecia-Mental Retardation Syndrome 1
Alopecia-Mental Retardation Syndrome 1 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs2070634
rs2070634 		1.000 0.080 3 186618238 intron variant T/G snv 0.47
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2070635
rs2070635 		0.925 0.160 3 186618387 intron variant A/G snv 0.35
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2070635
rs2070635 		0.925 0.160 3 186618387 intron variant A/G snv 0.35
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2077119
rs2077119 		1.000 0.080 3 186612673 intron variant T/G snv 0.34
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2248690
rs2248690 		0.882 0.200 3 186612299 intron variant T/A snv 0.72
CUI: C1175175
Disease: Severe Acute Respiratory Syndrome
Severe Acute Respiratory Syndrome 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2248690
rs2248690 		0.882 0.200 3 186612299 intron variant T/A snv 0.72
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2248690
rs2248690 		0.882 0.200 3 186612299 intron variant T/A snv 0.72
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2518134
rs2518134 		3 186614393 intron variant C/T snv 0.64
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2518136
rs2518136 		0.851 0.120 3 186620038 intron variant T/C snv 0.46
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs2518136
rs2518136 		0.851 0.120 3 186620038 intron variant T/C snv 0.46
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2518136
rs2518136 		0.851 0.120 3 186620038 intron variant T/C snv 0.46
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs2518136
rs2518136 		0.851 0.120 3 186620038 intron variant T/C snv 0.46
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs2593813
rs2593813 		1.000 0.080 3 186614782 intron variant G/A snv 0.63
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs35094235
rs35094235 		3 186611162 intron variant T/G snv 0.75
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs35457250
rs35457250 		0.925 0.080 3 186620775 missense variant C/T snv 9.0E-03 8.1E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs35457250
rs35457250 		0.925 0.080 3 186620775 missense variant C/T snv 9.0E-03 8.1E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs35457250
rs35457250 		0.925 0.080 3 186620775 missense variant C/T snv 9.0E-03 8.1E-03
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs35457250
rs35457250 		0.925 0.080 3 186620775 missense variant C/T snv 9.0E-03 8.1E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs35457250
rs35457250 		0.925 0.080 3 186620775 missense variant C/T snv 9.0E-03 8.1E-03
CUI: C0162429
Disease: Malnutrition
Malnutrition 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005