rs5522

minus

Geno	Mag	Summary
(A;A)	0	common on affy axiom data
(G;G)	0	common in clinvar
(T;T)	0

Make rs5522(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

148436323

Gene

NR3C2

is a	snp
is	mentioned by
dbSNP	rs5522
dbSNP (classic)	rs5522
ClinGen	rs5522
ebi	rs5522
HLI	rs5522
Exac	rs5522
Gnomad	rs5522
Varsome	rs5522
LitVar	rs5522
Map	rs5522
PheGenI	rs5522
Biobank	rs5522
1000 genomes	rs5522
hgdp	rs5522
ensembl	rs5522
geneview	rs5522
scholar	rs5522
google	rs5522
pharmgkb	rs5522
gwascentral	rs5522
openSNP	rs5522
23andMe	rs5522
SNPshot	rs5522
SNPdbe	rs5522
MSV3d	rs5522
GWAS Ctlg	rs5522

GMAF

0.1175

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[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 16642433 ] Polymorphism in maternal LRP8 gene is associated with fetal growth.

[PMID 18227835 ] 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 19359258 ] Cohort profile: risk patterns and processes for psychopathology emerging during adolescence: the ROOTS project.

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

[PMID 20680430 ] 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

[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

ClinVar
Risk	Rs5522(A;A)
Alt	Rs5522(A;A)
Reference	Rs5522(G;G)
Significance	Non-pathogenic
Disease	not specified Pseudohypoaldosteronism
Variation	info
Gene	NR3C2
CLNDBN	not specified Pseudohypoaldosteronism, Type I, Dominant
Reversed	1
HGVS	NC_000004.11:g.149357475C>T
CLNSRC
CLNACC	RCV000245161.1, RCV000313848.1,

[PMID 30292562] NR3C2 Gene is Associated with Susceptibility to High-Altitude Pulmonary Edema in Han Chinese.