rs2070951
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2070951(C;G) |
| Make rs2070951(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 148436862 |
| Gene | NR3C2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2070951 |
| dbSNP (classic) | rs2070951 |
| ClinGen | rs2070951 |
| ebi | rs2070951 |
| HLI | rs2070951 |
| Exac | rs2070951 |
| Gnomad | rs2070951 |
| Varsome | rs2070951 |
| LitVar | rs2070951 |
| Map | rs2070951 |
| PheGenI | rs2070951 |
| Biobank | rs2070951 |
| 1000 genomes | rs2070951 |
| hgdp | rs2070951 |
| ensembl | rs2070951 |
| geneview | rs2070951 |
| scholar | rs2070951 |
| rs2070951 | |
| pharmgkb | rs2070951 |
| gwascentral | rs2070951 |
| openSNP | rs2070951 |
| 23andMe | rs2070951 |
| SNPshot | rs2070951 |
| SNPdbe | rs2070951 |
| MSV3d | rs2070951 |
| GWAS Ctlg | rs2070951 |
| GMAF | 0.4931 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19665310] Functional mineralocorticoid receptor (MR) gene variation influences the cortisol awakening response after dexamethasone
[PMID 20855654] The Functional c.-2G>C Variant of the Mineralocorticoid Receptor Modulates Blood Pressure, Renin, and Aldosterone Levels
[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 20832946] Association of a common mineralocorticoid receptor gene polymorphism with salivary cortisol in healthy adults.
[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 23055001] Genetic evidence for the association of the hypothalamic-pituitary-adrenal (HPA) axis with ADHD and methylphenidate treatment response.
[PMID 26049084] Association of Mineralocorticoid Receptor Polymorphism I180V With Left Ventricular Hypertrophy in Resistant Hypertension
| ClinVar | |
|---|---|
| Risk | rs2070951(G;G) |
| Alt | rs2070951(G;G) |
| Reference | Rs2070951(C;C) |
| 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.149358014G>C |
| CLNSRC | |
| CLNACC | RCV000248688.1, RCV000355928.1, |
[PMID 30292562] NR3C2 Gene is Associated with Susceptibility to High-Altitude Pulmonary Edema in Han Chinese.
[PMID 31388769] Interaction between the functional SNP rs2070951 in NR3C2 gene and high levels of plasma corticotropin-releasing hormone associates to postpartum depression.
