Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56149945
rs56149945
0.040 GeneticVariation BEFREE To evaluate the effects of glucocorticoid receptor (GR) polymorphisms (BclI, N363S, ER22/23EK and A3669G) which influence peripheral glucocorticoid sensitivity on muscular function in endogenous CS. 31613324

2020

dbSNP: rs56149945
rs56149945
0.040 GeneticVariation BEFREE To compare the frequency of N363S, ER22/23EK and BclI SNPs in patients with AI with the general population and to evaluate whether these SNPs are linked to consequences of cortisol excess. 27649075

2016

dbSNP: rs56149945
rs56149945
0.040 GeneticVariation BEFREE To evaluate the presence of GR polymorphisms (BclI (rs41423247), N363S (rs56149945), ER22/23EK (rs6189/rs6190), and 9β (rs6198) and investigate their associations with metabolic alterations in patients in long-term remission of Cushing's syndrome (CS). 26873309

2016

dbSNP: rs56149945
rs56149945
0.040 GeneticVariation BEFREE We evaluate the prevalence of the four GR (NR3C1) polymorphisms BclI, N363S, ER22/23EK, and A3669G in patients with Cushing's syndrome (CS) compared with healthy controls (HC) and we investigate their role in the development of metabolic abnormalities in patients with CS according to their hormonal profile. 22048965

2012

dbSNP: rs386352352
rs386352352
0.030 GeneticVariation BEFREE Accordingly, biochemical Cushing's syndrome was present only in the patient with the p.Leu206Arg mutation. 27270477

2016

dbSNP: rs386352352
rs386352352
0.030 GeneticVariation BEFREE Of the 13 patients with CPA who showed overt Cushing's syndrome, 3 (23%) had recurrent somatic mutations of the PRKACA gene, p.L206R (c.617 T>G), and there were no mutations in subclinical Cushing's syndrome. 25069672

2014

dbSNP: rs386352352
rs386352352
0.030 GeneticVariation BEFREE We report a hotspot mutation (L206R) in PRKACA, which encodes the catalytic subunit of cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA), in more than 50% of cases with adrenocortical adenomas associated with corticotropin-independent Cushing's syndrome. 24855271

2014

dbSNP: rs11554273
rs11554273
0.010 GeneticVariation BEFREE Two of the 15 (13%) CPAs with overt Cushing's syndrome and one of the 9 (11%) CPAs with subclinical Cushing's syndrome examined had the somatic mutations, p.R201S and p.R201C in the GNAS gene. 26743443

2016

dbSNP: rs1333998849
rs1333998849
0.010 GeneticVariation BEFREE Three novel heterozygous missense NR3C1 mutations (R477S, Y478C, and L672P) were identified in patients presenting with adrenal incidentalomas, glucocorticoid excess without Cushing syndrome. 27120390

2016

dbSNP: rs41423247
rs41423247
0.010 GeneticVariation BEFREE To evaluate the presence of GR polymorphisms (BclI (rs41423247), N363S (rs56149945), ER22/23EK (rs6189/rs6190), and 9β (rs6198) and investigate their associations with metabolic alterations in patients in long-term remission of Cushing's syndrome (CS). 26873309

2016

dbSNP: rs6189
rs6189
0.010 GeneticVariation BEFREE To evaluate the presence of GR polymorphisms (BclI (rs41423247), N363S (rs56149945), ER22/23EK (rs6189/rs6190), and 9β (rs6198) and investigate their associations with metabolic alterations in patients in long-term remission of Cushing's syndrome (CS). 26873309

2016

dbSNP: rs6190
rs6190
0.010 GeneticVariation BEFREE To evaluate the presence of GR polymorphisms (BclI (rs41423247), N363S (rs56149945), ER22/23EK (rs6189/rs6190), and 9β (rs6198) and investigate their associations with metabolic alterations in patients in long-term remission of Cushing's syndrome (CS). 26873309

2016

dbSNP: rs6198
rs6198
0.010 GeneticVariation BEFREE To evaluate the presence of GR polymorphisms (BclI (rs41423247), N363S (rs56149945), ER22/23EK (rs6189/rs6190), and 9β (rs6198) and investigate their associations with metabolic alterations in patients in long-term remission of Cushing's syndrome (CS). 26873309

2016

dbSNP: rs76308115
rs76308115
0.010 GeneticVariation BEFREE One of these, located in the phosphodiesterase 11A (PDE11A) gene (R307X), has previously been reported to cause loss of PDE11A function and Cushing's syndrome in female carriers. 26820475

2016