{{Rsnum
|rsid=5522
|Gene=NR3C2
|Chromosome=4
|position=148436323
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1175
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=NR3C2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 80.5 | 18.6 | 0.9
| HCB | 73.0 | 24.1 | 2.9
| JPT | 63.7 | 29.2 | 7.1
| YRI | 83.0 | 16.3 | 0.7
| ASW | 93.0 | 5.3 | 1.8
| CHB | 73.0 | 24.1 | 2.9
| CHD | 77.1 | 21.1 | 1.8
| GIH | 86.1 | 13.9 | 0.0
| LWK | 81.8 | 18.2 | 0.0
| MEX | 70.7 | 27.6 | 1.7
| MKK | 72.4 | 26.3 | 1.3
| TSI | 86.3 | 13.7 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=5522
|allele=T
|frequency=0.883
|uid=1103654581871
|type=homozygous_SNP
|hugo=NR3C2
|ensembl gene=ENSG00000151623
|ensembl transcript=ENST00000358102
|sift=TOLERATED
|disease=Defects in NR3C2 are a cause of early onset hypertension with severe exacerbation in pregnancy (MIM:605115). Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion.
}}{{PMID Auto
|PMID=19325532
|Title=Association of a Mineralocorticoid Receptor Gene Polymorphism With Hypertension in a Spanish Population.
}}
{{PMID Auto
|PMID=19665310
|Title=Functional mineralocorticoid receptor (MR) gene variation influences the cortisol awakening response after dexamethasone
}}

{{PMID Auto
|PMID=16642433
|Title=Polymorphism in maternal LRP8 gene is associated with fetal growth.
|OA=1
}}

{{PMID Auto
|PMID=18227835
|Title=Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking.
|OA=1
}}

{{PMID Auto
|PMID=18468809
|Title=Glucocorticoid sensitivity in fibromyalgia patients: decreased expression of corticosteroid receptors and glucocorticoid-induced leucine zipper.
}}

{{PMID Auto
|PMID=19359258
|Title=Cohort profile: risk patterns and processes for psychopathology emerging during adolescence: the ROOTS project.
|OA=1
}}

{{PMID Auto
|PMID=20528958
|Title=The impact of mineralocorticoid receptor ISO/VAL genotype (rs5522) and stress on reward learning.
|OA=1
}}

{{PMID Auto
|PMID=20680430
|Title=No associations between single nucleotide polymorphisms in corticoid receptor genes and heart rate and cortisol responses to a standardized social stress test in adolescents: the TRAILS study.
|OA=1
}}

{{PMID Auto
|PMID=21095064
|Title=Human mineralocorticoid receptor (MR) gene haplotypes modulate MR expression and transactivation: implication for the stress response.
}}

{{PMID Auto
|PMID=21112363
|Title=Association of FKBP5 gene haplotypes with completed suicide in the Japanese population.
}}

{{PMID Auto
|PMID=22584804
|Title=The role of a mineralocorticoid receptor gene functional polymorphism in the symptom dimensions of persistent ADHD.
}}

{{PMID Auto
|PMID=23040111
|Title=Genetic Variants of the Renin-Angiotensin-Aldosterone System and Reverse Remodeling After Cardiac Resynchronization Therapy
}}

{{GET Evidence
|gene=NR3C2
|aa_change=Val180Ile
|aa_change_short=V180I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5522
|overall_frequency_n=9672
|overall_frequency_d=10758
|overall_frequency=0.899052
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=99
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-4
|autoscore=2
|n_web_uneval=2
}}

{{PMID Auto
|PMID=23055001
|Title=Genetic evidence for the association of the hypothalamic-pituitary-adrenal (HPA) axis with ADHD and methylphenidate treatment response.
}}

{{PMID Auto
|PMID=23543128
|Title=MR and GR functional SNPs may modulate tobacco smoking susceptibility.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}