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: 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: rs104893914
rs104893914 		1.000 0.080 5 143282714 missense variant C/T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs12655166
rs12655166 		1.000 0.080 5 143429707 intron variant T/C snv 0.19
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs17209237
rs17209237 		1.000 0.120 5 143277647 downstream gene variant A/G snv 0.18
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2918417
rs2918417 		1.000 0.040 5 143346605 intron variant C/T snv 0.29
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2963156
rs2963156 		1.000 0.040 5 143378931 intron variant T/A;C snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4607376
rs4607376 		1.000 0.080 5 143416967 intron variant A/G;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4634384
rs4634384 		1.000 0.040 5 143401132 intron variant C/T snv 0.52
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6188
rs6188 		1.000 0.040 5 143300779 intron variant C/A snv 0.26 0.29
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6194
rs6194 		1.000 0.040 5 143298796 synonymous variant G/A snv 8.4E-03 3.9E-03
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6865292
rs6865292 		1.000 0.080 5 143413425 intron variant T/C snv 0.20
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs768442683
rs768442683 		1.000 0.080 5 143400467 missense variant T/C;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 2005 2005
dbSNP: rs7719514
rs7719514 		1.000 0.080 5 143430559 intron variant G/A snv 5.9E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs852977
rs852977 		1.000 0.040 5 143307929 intron variant A/G snv 0.29
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9324918
rs9324918 		1.000 0.080 5 143387595 intron variant T/C snv 0.15
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
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: 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: 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: rs10482672
rs10482672 		0.925 0.080 5 143312968 intron variant G/A snv 0.15
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012