Gene: NR3C2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41511344
rs41511344
NR3C2
0.060 GeneticVariation BEFREE The S810L mutation within the human mineralocorticoid receptor (MR S810L) induces severe hypertension and switches progesterone from antagonist to agonist. 15908963

2005
dbSNP: rs41511344
rs41511344
NR3C2
0.060 GeneticVariation BEFREE Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. 16419642

2005
dbSNP: rs41511344
rs41511344
NR3C2
0.060 GeneticVariation BEFREE Identification of steroid ligands able to inactivate the mineralocorticoid receptor harboring the S810L mutation responsible for a severe form of hypertension. 15134816

2004
dbSNP: rs41511344
rs41511344
NR3C2
0.060 GeneticVariation BEFREE A missense mutation at codon 810 (Ser --> Leu) of the mineralocorticoid receptor was recently observed in a family with early manifestation of hypertension. 15117605

2004
dbSNP: rs41511344
rs41511344
NR3C2
0.060 GeneticVariation BEFREE The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related. 12538613

2003
dbSNP: rs41511344
rs41511344
NR3C2
0.060 GeneticVariation BEFREE We describe a mutation in the mineralocorticoid receptor (MR), S810L, that causes early-onset hypertension that is markedly exacerbated in pregnancy. 10884226

2000
dbSNP: rs5522
rs5522
NR3C2
0.030 GeneticVariation BEFREE Genetic variation in <i>MR</i> (rs5522) and comorbidity with hypertension were significantly and potentially associated with prognosis when treated with ADT, respectively. 30619769

2018
dbSNP: rs5522
rs5522
NR3C2
0.030 GeneticVariation BEFREE The aim of this study was to analyze the association between the MR p.I180V polymorphism with hypertension and markers of cardiovascular risk. 19955850

2010
dbSNP: rs5522
rs5522
NR3C2
0.030 GeneticVariation BEFREE One haplotype, which included the G allele of the rs5522</span>, was also associated with reduced risk of HTN and four haplotypes which included the A allele were associated with increased risk of HTN. 19325532

2009
dbSNP: rs1040288
rs1040288
NR3C2
0.010 GeneticVariation BEFREE The results reveal a possible association between the rs11099680 RAAS polymorphism and uncontrolled AHT in MS-diagnosed patients. rs1040288 appears to be associated with uncontrolled blood pressure regardless of MS profile. 21471972

2011
dbSNP: rs10519963
rs10519963
NR3C2
0.010 GeneticVariation BEFREE Three SNPs (rs11737660, rs6810951, and rs10519963) in NR3C2 correlate with both blood pressure and hypertension. 21342026

2011
dbSNP: rs11099680
rs11099680
NR3C2
0.010 GeneticVariation BEFREE The results reveal a possible association between the rs11099680 RAAS polymorphism and uncontrolled AHT</span> in MS-diagnosed patients. rs1040288 appears to be associated with uncontrolled blood pressure regardless of MS profile. 21471972

2011
dbSNP: rs6810951
rs6810951
NR3C2
0.010 GeneticVariation BEFREE Three SNPs (rs11737660, rs6810951, and rs10519963) in NR3C2 correlate with both blood pressure and hypertension. 21342026

2011
dbSNP: rs13306592
rs13306592
NR3C2
0.010 GeneticVariation BEFREE The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. 16419642

2005