Disease: Glucocorticoid Receptor Deficiency ×
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: 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: 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: 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