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: rs17100234
rs17100234 		5 143335077 intron variant C/A snv 7.8E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17100234
rs17100234 		5 143335077 intron variant C/A snv 7.8E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4986593
rs4986593 		5 143314281 intron variant A/G snv 0.16
CUI: C3890602
Disease: Bodily Pain
Bodily Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs9324924
rs9324924 		5 143412919 intron variant G/T snv 0.46
CUI: C3890602
Disease: Bodily Pain
Bodily Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs121909726
rs121909726 		5 143281964 missense variant T/A snv
CUI: C4016112
Disease: GLUCOCORTICOID RESISTANCE, CELLULAR
GLUCOCORTICOID RESISTANCE, CELLULAR 		0.700 0
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.070 0.714 7 2001 2010
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.050 1.000 5 2005 2016
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		Endocrine System Diseases 0.040 1.000 4 2012 2020
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 0.750 4 2003 2015
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 0.667 3 2005 2013
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 0.667 3 2001 2013
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome 		Endocrine System Diseases 0.030 1.000 3 2012 2020
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.030 1.000 3 2012 2016
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 0.667 3 2003 2016
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.030 1.000 3 2007 2020
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		Nervous System Diseases; Endocrine System Diseases 0.020 0.500 2 2009 2014
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 0.500 2 2006 2012
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 0.500 2 2001 2003
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2006 2016
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0871388
Disease: social stress
social stress 		Behavior and Behavior Mechanisms 0.020 1.000 2 2004 2007
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		Digestive System Diseases 0.020 1.000 2 2006 2009
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 0.500 2 2001 2013
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 0.500 2 2001 2003
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0162739
Disease: HELLP Syndrome
HELLP Syndrome 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs56149945
rs56149945 		0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016