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rs5522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common on affy axiom data
(T;T) 0
Make rs5522(A;G)
Make rs5522(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position148436323
GeneNR3C2
is asnp
is mentioned by
dbSNPrs5522
ebirs5522
HLIrs5522
Exacrs5522
Varsomers5522
Maprs5522
PheGenIrs5522
hapmaprs5522
1000 genomesrs5522
hgdprs5522
ensemblrs5522
gopubmedrs5522
geneviewrs5522
scholarrs5522
googlers5522
pharmgkbrs5522
gwascentralrs5522
openSNPrs5522
23andMers5522
23andMe allrs5522
SNP Nexus

SNPshotrs5522
SNPdbers5522
MSV3drs5522
GWAS Ctlgrs5522
GMAF0.1175
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene NR3C2
allele T
frequency 0.883
sift TOLERATED
HuRef 1103654581871
Disease Association 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 19325532] Association of a Mineralocorticoid Receptor Gene Polymorphism With Hypertension in a Spanish Population.

[PMID 19665310] Functional mineralocorticoid receptor (MR) gene variation influences the cortisol awakening response after dexamethasone


[PMID 16642433OA-icon.png] Polymorphism in maternal LRP8 gene is associated with fetal growth.


[PMID 18227835OA-icon.png] Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking.


[PMID 18468809] Glucocorticoid sensitivity in fibromyalgia patients: decreased expression of corticosteroid receptors and glucocorticoid-induced leucine zipper.


[PMID 19359258OA-icon.png] Cohort profile: risk patterns and processes for psychopathology emerging during adolescence: the ROOTS project.


[PMID 20528958OA-icon.png] The impact of mineralocorticoid receptor ISO/VAL genotype (rs5522) and stress on reward learning.


[PMID 20680430OA-icon.png] 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.


[PMID 21095064] Human mineralocorticoid receptor (MR) gene haplotypes modulate MR expression and transactivation: implication for the stress response.


[PMID 21112363] Association of FKBP5 gene haplotypes with completed suicide in the Japanese population.


[PMID 22584804] The role of a mineralocorticoid receptor gene functional polymorphism in the symptom dimensions of persistent ADHD.


[PMID 23040111] Genetic Variants of the Renin-Angiotensin-Aldosterone System and Reverse Remodeling After Cardiac Resynchronization Therapy


GET Evidence
NR3C2-V180I
aa_change Val180Ile
aa_change_short V180I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.899052
summary



[PMID 23055001] Genetic evidence for the association of the hypothalamic-pituitary-adrenal (HPA) axis with ADHD and methylphenidate treatment response.


[PMID 23543128] MR and GR functional SNPs may modulate tobacco smoking susceptibility.


[PMID 26049084] Association of Mineralocorticoid Receptor Polymorphism I180V With Left Ventricular Hypertrophy in Resistant Hypertension