Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1027058734
rs1027058734
NR3C1
0.700 GeneticVariation UNIPROT

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: rs104893913
rs104893913
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: rs104893914
rs104893914
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: rs104893908
rs104893908
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 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: rs104893910
rs104893910
NR3C1
0.800 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: rs121909727
rs121909727
NR3C1
0.800 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 A mutation of the glucocorticoid receptor in primary cortisol resistance. 7683692

1993
dbSNP: rs104893913
rs104893913
NR3C1
0.810 GeneticVariation UNIPROT A mutation of the glucocorticoid receptor in primary cortisol resistance. 7683692

1993
dbSNP: rs104893914
rs104893914
NR3C1
0.810 GeneticVariation UNIPROT A mutation of the glucocorticoid receptor in primary cortisol resistance. 7683692

1993
dbSNP: rs104893908
rs104893908
NR3C1
0.800 GeneticVariation UNIPROT A mutation of the glucocorticoid receptor in primary cortisol resistance. 7683692

1993
dbSNP: rs104893909
rs104893909
NR3C1
0.800 GeneticVariation UNIPROT A mutation of the glucocorticoid receptor in primary cortisol resistance. 7683692

1993
dbSNP: rs104893910
rs104893910
NR3C1
0.800 GeneticVariation UNIPROT A mutation of the glucocorticoid receptor in primary cortisol resistance. 7683692

1993
dbSNP: rs121909727
rs121909727
NR3C1
0.800 GeneticVariation UNIPROT A mutation of the glucocorticoid receptor in primary cortisol resistance. 7683692

1993
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 Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. 11589680

2001