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: 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: 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: 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: C0162429
Disease: Malnutrition
Malnutrition 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs4917
rs4917 		0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs4917
rs4917 		0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs4917
rs4917 		0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68
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: 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: 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: rs70961709
rs70961709 		1.000 0.040 3 186620652 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs70961709
rs70961709 		1.000 0.040 3 186620652 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs70961709
rs70961709 		1.000 0.040 3 186620652 missense variant G/A;C snv 4.0E-06; 4.0E-06
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: 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: 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: 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: 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: rs4917
rs4917 		0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68
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: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
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