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: 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: rs534828104
rs534828104 		0.925 0.080 3 186618566 missense variant A/G snv
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 2018 2018
dbSNP: rs534828104
rs534828104 		0.925 0.080 3 186618566 missense variant A/G snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4831
rs4831 		1.000 0.080 3 186613180 synonymous variant C/G snv 0.16 0.20
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: 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
dbSNP: rs573820635
rs573820635 		1.000 0.080 3 186620844 missense variant C/T snv 2.1E-04 6.3E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
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: 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: rs4918
rs4918 		0.763 0.400 3 186620593 missense variant G/A;C snv 0.67
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs4918
rs4918 		0.763 0.400 3 186620593 missense variant G/A;C snv 0.67
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs4918
rs4918 		0.763 0.400 3 186620593 missense variant G/A;C snv 0.67
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4918
rs4918 		0.763 0.400 3 186620593 missense variant G/A;C snv 0.67
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4918
rs4918 		0.763 0.400 3 186620593 missense variant G/A;C snv 0.67
CUI: C0342649
Disease: Vascular calcification
Vascular calcification 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4918
rs4918 		0.763 0.400 3 186620593 missense variant G/A;C snv 0.67
CUI: C0162429
Disease: Malnutrition
Malnutrition 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs4918
rs4918 		0.763 0.400 3 186620593 missense variant G/A;C snv 0.67
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2007 2007
dbSNP: rs4918
rs4918 		0.763 0.400 3 186620593 missense variant G/A;C snv 0.67
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs4918
rs4918 		0.763 0.400 3 186620593 missense variant G/A;C snv 0.67
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016