rs6189
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs6189(A;A) |
| Make rs6189(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 143400774 |
| Gene | NR3C1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6189 |
| dbSNP (classic) | rs6189 |
| ClinGen | rs6189 |
| ebi | rs6189 |
| HLI | rs6189 |
| Exac | rs6189 |
| Gnomad | rs6189 |
| Varsome | rs6189 |
| LitVar | rs6189 |
| Map | rs6189 |
| PheGenI | rs6189 |
| Biobank | rs6189 |
| 1000 genomes | rs6189 |
| hgdp | rs6189 |
| ensembl | rs6189 |
| geneview | rs6189 |
| scholar | rs6189 |
| rs6189 | |
| pharmgkb | rs6189 |
| gwascentral | rs6189 |
| openSNP | rs6189 |
| 23andMe | rs6189 |
| SNPshot | rs6189 |
| SNPdbe | rs6189 |
| MSV3d | rs6189 |
| GWAS Ctlg | rs6189 |
| GMAF | 0.01331 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20440229] Glucocorticoid receptor gene polymorphisms in Italian patients with eating disorders and obesity
[PMID 20547006] FKBP5 and resistant attachment predict cortisol reactivity in infants: Gene-environment interaction
[PMID 21164266] Glucocorticoid resistance
[PMID 22427805
] Glucocorticoid Receptor 1B and 1C mRNA Transcript Alterations in Schizophrenia and Bipolar Disorder, and Their Possible Regulation by GR Gene Variants
[PMID 22507373] Glucocorticoid receptor gene polymorphisms are associated with reduced first-phase glucose-stimulated insulin secretion and disposition index in women, but not in men
[PMID 19673019] IL-10 and TNF-alpha promoter haplotypes are associated with childhood Crohn's disease location.
[PMID 20712049] Glucocorticoid receptor gene haplotype structure and steroid therapy outcome in IBD patients.
[PMID 21448414] Molecular mechanism of glucocorticoid resistance in inflammatory bowel disease.
[PMID 22781842] Variation in the glucocorticoid receptor gene at rs41423247 moderates the effect of prenatal maternal psychological symptoms on child cortisol reactivity and behavior
[PMID 23055001] Genetic evidence for the association of the hypothalamic-pituitary-adrenal (HPA) axis with ADHD and methylphenidate treatment response.
| ClinVar | |
|---|---|
| Risk | rs6189(A;A) |
| Alt | rs6189(A;A) |
| Reference | Rs6189(G;G) |
| Significance | Pathogenic |
| Disease | Glucocorticoid resistance Glucocorticoid resistance |
| Variation | info |
| Gene | NR3C1 |
| CLNDBN | Glucocorticoid resistance, relative Glucocorticoid resistance |
| Reversed | 1 |
| HGVS | NC_000005.9:g.142780339C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017536.30, RCV000360936.1, |
[PMID 25644744] Single Nucleotide Polymorphisms in the Non-coding Region of the Glucocorticoid Receptor Gene and Prednisone Response in Childhood Acute Lymphoblastic Leukemia
[PMID 25724472] Polymorphisms in the glucocorticoid receptor gene and in the glucocorticoid-induced transcript 1 gene are associated with disease activity and response to glucocorticoid bridging therapy in rheumatoid arthritis
[PMID 33562675] The Glucocorticoid Receptor Gene (NR3C1) 9β SNP Is Associated with Posttraumatic Stress Disorder.
