rs5522

Homo sapiens
C>T
NR3C2 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0118 (14428/121410,ExAC)
C==0111 (3333/29948,GnomAD)
C==0119 (3465/29118,TOPMED)
T=0102 (1332/13006,GO-ESP)
C==0108 (541/5008,1000G)
C==0111 (426/3854,ALSPAC)
C==0110 (408/3708,TWINSUK)
chr4:148436323 (GRCh38.p7) (4q31.23)
ND
GWASdb2
33   publication(s)
See rs on genome
54 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.148436323C>T
GRCh37.p13 chr 4NC_000004.11:g.149357475C>T
NR3C2 RefSeqGeneNG_013350.1:g.11198G>A

Gene: NR3C2, nuclear receptor subfamily 3 group C member 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NR3C2 transcript variant 1NM_000901.4:c.538G>AV [GTT]> I [ATT]Coding Sequence Variant
mineralocorticoid receptor isoform 1NP_000892.2:p.Val...NP_000892.2:p.Val180IleV [Val]> I [Ile]Missense Variant
NR3C2 transcript variant 2NM_001166104.1:c....NM_001166104.1:c.538G>AV [GTT]> I [ATT]Coding Sequence Variant
mineralocorticoid receptor isoform 2NP_001159576.1:p....NP_001159576.1:p.Val180IleV [Val]> I [Ile]Missense Variant
NR3C2 transcript variant X1XM_011531975.1:c....XM_011531975.1:c.538G>AV [GTT]> I [ATT]Coding Sequence Variant
mineralocorticoid receptor isoform X1XP_011530277.1:p....XP_011530277.1:p.Val180IleV [Val]> I [Ile]Missense Variant
NR3C2 transcript variant X2XM_011531976.2:c....XM_011531976.2:c.538G>AV [GTT]> I [ATT]Coding Sequence Variant
mineralocorticoid receptor isoform X1XP_011530278.1:p....XP_011530278.1:p.Val180IleV [Val]> I [Ile]Missense Variant
NR3C2 transcript variant X3XM_011531977.2:c....XM_011531977.2:c.538G>AV [GTT]> I [ATT]Coding Sequence Variant
mineralocorticoid receptor isoform X1XP_011530279.1:p....XP_011530279.1:p.Val180IleV [Val]> I [Ile]Missense Variant
NR3C2 transcript variant X4XM_017008217.1:c....XM_017008217.1:c.538G>AV [GTT]> I [ATT]Coding Sequence Variant
mineralocorticoid receptor isoform X2XP_016863706.1:p....XP_016863706.1:p.Val180IleV [Val]> I [Ile]Missense Variant
NR3C2 transcript variant X2XM_011531978.2:c....XM_011531978.2:c.538G>AV [GTT]> I [ATT]Coding Sequence Variant
mineralocorticoid receptor isoform X2XP_011530280.1:p....XP_011530280.1:p.Val180IleV [Val]> I [Ile]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.073T=0.927
1000GenomesAmericanSub694C=0.170T=0.830
1000GenomesEast AsianSub1008C=0.146T=0.854
1000GenomesEuropeSub1006C=0.084T=0.916
1000GenomesGlobalStudy-wide5008C=0.108T=0.892
1000GenomesSouth AsianSub978C=0.100T=0.900
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.111T=0.889
The Exome Aggregation ConsortiumAmericanSub21984C=0.167T=0.832
The Exome Aggregation ConsortiumAsianSub25164C=0.114T=0.885
The Exome Aggregation ConsortiumEuropeSub73354C=0.105T=0.894
The Exome Aggregation ConsortiumGlobalStudy-wide121410C=0.118T=0.881
The Exome Aggregation ConsortiumOtherSub908C=0.100T=0.900
The Genome Aggregation DatabaseAfricanSub8716C=0.098T=0.902
The Genome Aggregation DatabaseAmericanSub838C=0.200T=0.800
The Genome Aggregation DatabaseEast AsianSub1618C=0.125T=0.875
The Genome Aggregation DatabaseEuropeSub18474C=0.112T=0.887
The Genome Aggregation DatabaseGlobalStudy-wide29948C=0.111T=0.888
The Genome Aggregation DatabaseOtherSub302C=0.130T=0.870
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.119T=0.881
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.110T=0.890
PMID Title Author Journal
22719919Glutamate and synaptic plasticity systems and smoking behavior: results from a genetic association study.dos Santos VAPLoS One
21095064Human mineralocorticoid receptor (MR) gene haplotypes modulate MR expression and transactivation: implication for the stress response.van Leeuwen NPsychoneuroendocrinology
18227835Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking.Berrettini WMol Psychiatry
27528460HPA axis in major depression: cortisol, clinical symptomatology and genetic variation predict cognition.Keller JMol Psychiatry
21917807Corticotropin-releasing hormone receptor type 1 (CRHR1) genetic variation and stress interact to influence reward learning.Bogdan RJ Neurosci
26882083Associations between Single-Nucleotide Polymorphisms in Corticotropin-Releasing Hormone-Related Genes and Irritable Bowel Syndrome.Sasaki APLoS One
26970338Stress and Depression: a Crucial Role of the Mineralocorticoid Receptor.de Kloet ERJ Neuroendocrinol
26049084Association of Mineralocorticoid Receptor Polymorphism I180V With Left Ventricular Hypertrophy in Resistant Hypertension.Ritter AMAm J Hypertens
26228405Corticosteroid receptor genes and childhood neglect influence susceptibility to crack/cocaine addiction and response to detoxification treatment.Rovaris DLJ Psychiatr Res
23543128MR and GR functional SNPs may modulate tobacco smoking susceptibility.Rovaris DLJ Neural Transm (Vienna)
24691024Investigation of genetic variants, birthweight and hypothalamic-pituitary-adrenal axis function suggests a genetic variant in the SERPINA6 gene is associated with corticosteroid binding globulin in the western Australia pregnancy cohort (Raine) study.Anderson LNPLoS One
25741868Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Richards SGenet Med
21112363Association of FKBP5 gene haplotypes with completed suicide in the Japanese population.Supriyanto IProg Neuropsychopharmacol Biol Psychiatry
25220664A common mineralocorticoid receptor polymorphism (I180V) interacts with life events in relation to perfectionism in eating disorders: a pilot study.Slof-Op't Landt MCEur Eat Disord Rev
25686805Mineralocorticoid receptor haplotypes sex-dependently moderate depression susceptibility following childhood maltreatment.Vinkers CHPsychoneuroendocrinology
19359258Cohort profile: risk patterns and processes for psychopathology emerging during adolescence: the ROOTS project.Goodyer IMInt J Epidemiol
26260058Two novel genetic variants in the mineralocorticoid receptor gene associated with spontaneous preterm birth.Christiaens IBMC Med Genet
20680430No 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.Bouma EMBehav Genet
16642433Polymorphism in maternal LRP8 gene is associated with fetal growth.Wang LAm J Hum Genet
18468809Glucocorticoid sensitivity in fibromyalgia patients: decreased expression of corticosteroid receptors and glucocorticoid-induced leucine zipper.Macedo JAPsychoneuroendocrinology
26595470Amygdala functional connectivity, HPA axis genetic variation, and life stress in children and relations to anxiety and emotion regulation.Pagliaccio DJ Abnorm Psychol
22584804The role of a mineralocorticoid receptor gene functional polymorphism in the symptom dimensions of persistent ADHD.Kortmann GLEur Arch Psychiatry Clin Neurosci
25583614HPA axis genetic variation, pubertal status, and sex interact to predict amygdala and hippocampus responses to negative emotional faces in school-age children.Pagliaccio DNeuroimage
23055001Genetic evidence for the association of the hypothalamic-pituitary-adrenal (HPA) axis with ADHD and methylphenidate treatment response.Fortier MENeuromolecular Med
24596569Gene-environment interactions and intermediate phenotypes: early trauma and depression.Hornung OPFront Endocrinol (Lausanne)
19665310Functional mineralocorticoid receptor (MR) gene variation influences the cortisol awakening response after dexamethasone.van Leeuwen NPsychoneuroendocrinology
19325532Association of a mineralocorticoid receptor gene polymorphism with hypertension in a Spanish population.Martinez FAm J Hypertens
24497894A Conceptual Model of Psychoneurological Symptom Cluster Variation in Women with Breast Cancer: Bringing Nursing Research to Personalized Medicine.Starkweather ARCurr Pharmacogenomics Person Med
24166410HPA axis genetic variation, cortisol and psychosis in major depression.Schatzberg AFMol Psychiatry
24059494Effect of NR3C2 genetic polymorphisms on the blood pressure response to enalapril treatment.Luo JQPharmacogenomics
26189450Genetic Moderation of Stress Effects on Corticolimbic Circuitry.Bogdan RNeuropsychopharmacology
20528958The impact of mineralocorticoid receptor ISO/VAL genotype (rs5522) and stress on reward learning.Bogdan RGenes Brain Behav
27936434Mineralocorticoid receptor haplotype, estradiol, progesterone and emotional information processing.Hamstra DAPsychoneuroendocrinology

P-Value

SNP ID p-value Traits Study
rs55221.52E-05nicotine dependence18227835

eQTL of rs5522 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs5522 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr4149355528149355754E067-1721
chr4149357145149357225E067-250
chr4149357263149357417E067-58
chr4149336635149336695E068-20780
chr4149336811149336964E068-20511
chr4149355528149355754E068-1721
chr4149356317149356379E068-1096
chr4149357145149357225E068-250
chr4149357263149357417E068-58
chr4149360594149360708E0683119
chr4149361045149361129E0683570
chr4149367610149367660E06810135
chr4149367687149367863E06810212
chr4149367981149368021E06810506
chr4149368237149368318E06810762
chr4149352524149352610E069-4865
chr4149352660149352883E069-4592
chr4149357145149357225E069-250
chr4149357263149357417E069-58
chr4149361045149361129E0693570
chr4149367610149367660E06910135
chr4149312626149312685E071-44790
chr4149352524149352610E071-4865
chr4149352660149352883E071-4592
chr4149356317149356379E071-1096
chr4149357263149357417E071-58
chr4149367610149367660E07110135
chr4149367687149367863E07110212
chr4149367981149368021E07110506
chr4149368237149368318E07110762
chr4149368391149368492E07110916
chr4149368566149368694E07111091
chr4149357145149357225E072-250
chr4149357263149357417E072-58
chr4149352524149352610E073-4865
chr4149357145149357225E073-250
chr4149357263149357417E073-58
chr4149360594149360708E0733119
chr4149361045149361129E0733570
chr4149367610149367660E07310135
chr4149367687149367863E07310212
chr4149367981149368021E07310506
chr4149368237149368318E07310762
chr4149355528149355754E074-1721
chr4149357145149357225E074-250
chr4149357263149357417E074-58
chr4149361045149361129E0743570
chr4149367610149367660E07410135
chr4149367687149367863E07410212
chr4149367981149368021E07410506
chr4149368237149368318E07410762
chr4149368391149368492E07410916
chr4149368566149368694E07411091
chr4149368708149368805E07411233







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4149362487149362537E0675012
chr4149362571149362670E0675096
chr4149362759149367463E0675284
chr4149362487149362537E0685012
chr4149362571149362670E0685096
chr4149362759149367463E0685284
chr4149362487149362537E0695012
chr4149362571149362670E0695096
chr4149362759149367463E0695284
chr4149362571149362670E0705096
chr4149362759149367463E0705284
chr4149362487149362537E0715012
chr4149362571149362670E0715096
chr4149362759149367463E0715284
chr4149362487149362537E0725012
chr4149362571149362670E0725096
chr4149362759149367463E0725284
chr4149362487149362537E0735012
chr4149362571149362670E0735096
chr4149362759149367463E0735284
chr4149362487149362537E0745012
chr4149362571149362670E0745096
chr4149362759149367463E0745284
chr4149362759149367463E0825284