Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893913
rs104893913
NR3C1
0.810 GeneticVariation UNIPROT Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. 11589680

2001
dbSNP: rs104893913
rs104893913
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: rs104893914
rs104893914
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: rs104893914
rs104893914
NR3C1
0.810 GeneticVariation UNIPROT Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. 11589680

2001
dbSNP: rs104893908
rs104893908
NR3C1
0.800 GeneticVariation UNIPROT Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. 11589680

2001
dbSNP: rs104893908
rs104893908
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 GeneticVariation UNIPROT Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. 11589680

2001
dbSNP: rs104893910
rs104893910
NR3C1
0.800 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: rs104893910
rs104893910
NR3C1
0.800 GeneticVariation UNIPROT Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. 11589680

2001
dbSNP: rs121909727
rs121909727
NR3C1
0.800 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: rs121909727
rs121909727
NR3C1
0.800 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, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. 12050230

2002
dbSNP: rs104893913
rs104893913
NR3C1
0.810 GeneticVariation UNIPROT A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. 12050230

2002
dbSNP: rs104893914
rs104893914
NR3C1
0.810 GeneticVariation UNIPROT A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. 12050230

2002
dbSNP: rs104893908
rs104893908
NR3C1
0.800 GeneticVariation UNIPROT A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. 12050230

2002
dbSNP: rs104893909
rs104893909
NR3C1
0.800 GeneticVariation UNIPROT A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. 12050230

2002
dbSNP: rs104893910
rs104893910
NR3C1
0.800 GeneticVariation UNIPROT A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. 12050230

2002
dbSNP: rs121909727
rs121909727
NR3C1
0.800 GeneticVariation UNIPROT A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. 12050230

2002
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: rs104893913
rs104893913
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: rs104893914
rs104893914
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: rs104893908
rs104893908
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 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: rs104893910
rs104893910
NR3C1
0.800 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