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: rs104893912
rs104893912 		1.000 0.080 5 143281905 missense variant A/G snv
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 15 1991 2019
dbSNP: rs104893913
rs104893913 		1.000 0.080 5 143310135 missense variant C/T snv 4.0E-06
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 15 1991 2016
dbSNP: rs104893914
rs104893914 		1.000 0.080 5 143282714 missense variant C/T snv
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 15 1991 2016
dbSNP: rs104893908
rs104893908 		0.925 0.160 5 143295561 missense variant T/A snv
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1991 2016
dbSNP: rs104893909
rs104893909 		0.925 0.160 5 143300556 missense variant A/T snv
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1991 2016
dbSNP: rs104893910
rs104893910 		1.000 0.080 5 143281982 missense variant A/C;G snv
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1991 2016
dbSNP: rs121909727
rs121909727 		1.000 0.080 5 143282014 missense variant A/G snv
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1991 2016
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: rs1027058734
rs1027058734 		1.000 0.080 5 143282038 missense variant C/T snv 7.0E-06
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs104893911
rs104893911 		1.000 0.080 5 143300520 missense variant A/G snv
CUI: C1841973
Disease: Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance
Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121909726
rs121909726 		5 143281964 missense variant T/A snv
CUI: C4016112
Disease: GLUCOCORTICOID RESISTANCE, CELLULAR
GLUCOCORTICOID RESISTANCE, CELLULAR 		0.700 0
dbSNP: rs587776832
rs587776832 		1.000 0.080 5 143298666 splice donor variant CTCA/- delins
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 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: rs41423247
rs41423247 		0.695 0.440 5 143399010 intron variant G/C snv 0.31
CUI: C0013473
Disease: Eating Disorders
Eating Disorders 		Mental Disorders 0.030 1.000 3 2010 2016
dbSNP: rs41423247
rs41423247 		0.695 0.440 5 143399010 intron variant G/C snv 0.31
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.030 1.000 3 2012 2018
dbSNP: rs41423247
rs41423247 		0.695 0.440 5 143399010 intron variant G/C snv 0.31
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.030 1.000 3 2012 2018
dbSNP: rs41423247
rs41423247 		0.695 0.440 5 143399010 intron variant G/C snv 0.31
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.030 1.000 3 2012 2018
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