Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation BEFREE Because the main feature of such pathology is the resistance of the hypothalamic-pituitary-adrenal axis to the hormone cortisol, we used the GR ligand binding domain three-dimensional structure to perform computational analysis for eight variants known to cause this clinical condition (I559 N, V571A, D641V, G679S, F737L, I747 M, L753F and L773P), aiming to understand, on the atom scale, how they cause glucocorticoid resistance. 31401440

2019
dbSNP: rs104893913
rs104893913
NR3C1
0.810 GeneticVariation BEFREE Further characterization of human glucocorticoid receptor mutants, R477H and G679S, associated with primary generalized glucocorticoid resistance. 23391271

2013
dbSNP: rs104893914
rs104893914
NR3C1
0.810 GeneticVariation BEFREE Further characterization of human glucocorticoid receptor mutants, R477H and G679S, associated with primary generalized glucocorticoid resistance. 23391271

2013
dbSNP: rs56149945
rs56149945
NR3C1
0.020 GeneticVariation BEFREE The N363S and BclI polymorphisms have been associated with hypersensitivity to glucocorticoids, whereas the ER22/23EK polymorphism is related to glucocorticoid resistance. 16580345

2006
dbSNP: rs56149945
rs56149945
NR3C1
0.020 GeneticVariation BEFREE The current meta-analysis found no evidence that glucocorticoid receptor gene polymorphisms (ER22/23EK, N363S, and BclI) are associated with glucocorticoid resistance in inflammatory bowel disease treatment. 22752665

2012
dbSNP: rs28451617
rs28451617
CYP3A7 ; ZSCAN25 ; CYP3A7-CYP3A51P
0.010 GeneticVariation BEFREE Multivariable analysis revealed that respiratory distress syndrome was associated with maternal single nucleotide polymorphisms in CYP3A5 (odds ratio [OR], 1.63; 95% confidence interval [CI], 1.16-2.30) and the glucocorticoid resistance (OR, 0.28; 95% CI, 0.08-0.95) and fetal single nucleotide polymorphisms in ADCY9 (OR, 0.17; 95% CI, 0.03-0.80) and CYP3A7*1E (rs28451617; OR, 23.68; 95% CI, 1.33-420.6). 22445700

2012
dbSNP: rs37973
rs37973
GLCCI1 ; GLCCI1-DT
0.010 GeneticVariation BEFREE CONCLUSIONS The GLCCI1 rs37973 variant is a risk factor for glucocorticoid resistance in Chinese patients with SAR who receive short-term INCS treatment. 29981236

2018
dbSNP: rs104893912
rs104893912
NR3C1
G 0.810 CausalMutation CLINVAR

dbSNP: rs104893913
rs104893913
NR3C1
T 0.810 CausalMutation CLINVAR

dbSNP: rs104893914
rs104893914
NR3C1
T 0.810 CausalMutation CLINVAR

dbSNP: rs104893908
rs104893908
NR3C1
A 0.800 CausalMutation CLINVAR

dbSNP: rs104893909
rs104893909
NR3C1
T 0.800 CausalMutation CLINVAR

dbSNP: rs104893910
rs104893910
NR3C1
C 0.800 CausalMutation CLINVAR

dbSNP: rs121909727
rs121909727
NR3C1
G 0.800 CausalMutation CLINVAR

dbSNP: rs587776832
rs587776832
NR3C1
T 0.700 CausalMutation CLINVAR

dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance. 1704018

1991
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking. 11701741

2001
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities. 24483153

2014
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance. 17635946

2007
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene. 21362280

2011
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT A novel point mutation in the DNA-binding domain (DBD) of the human glucocorticoid receptor causes primary generalized glucocorticoid resistance by disrupting the hydrophobic structure of its DBD. 23426617

2013
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. 11589680

2001
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: the importance of the C terminus of hGR LBD in conferring transactivational activity. 15769988

2005
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT A mutation of the glucocorticoid receptor in primary cortisol resistance. 7683692

1993
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT A novel mutation of the hGR gene causing Chrousos syndrome. 26031419

2015