rs6196
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs6196(A;G) |
| Make rs6196(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 143281925 |
| Gene | NR3C1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6196 |
| dbSNP (classic) | rs6196 |
| ClinGen | rs6196 |
| ebi | rs6196 |
| HLI | rs6196 |
| Exac | rs6196 |
| Gnomad | rs6196 |
| Varsome | rs6196 |
| LitVar | rs6196 |
| Map | rs6196 |
| PheGenI | rs6196 |
| Biobank | rs6196 |
| 1000 genomes | rs6196 |
| hgdp | rs6196 |
| ensembl | rs6196 |
| geneview | rs6196 |
| scholar | rs6196 |
| rs6196 | |
| pharmgkb | rs6196 |
| gwascentral | rs6196 |
| openSNP | rs6196 |
| 23andMe | rs6196 |
| SNPshot | rs6196 |
| SNPdbe | rs6196 |
| MSV3d | rs6196 |
| GWAS Ctlg | rs6196 |
| GMAF | 0.1382 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20472303] Associations between common arginine vasopressin 1b receptor and glucocorticoid receptor gene variants and HPA axis responses to psychosocial stress in a child psychiatric population
[PMID 21050724] Clock genes and body composition in patients with schizophrenia under treatment with antipsychotic drugs
[PMID 21633323] Variation in the glucocorticoid receptor gene (NR3C1) may be associated with corticosteroid dependency and resistance in children with Crohn's disease
[PMID 18698231
] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
[PMID 18854398] Glucocorticoid receptor gene variant in the 3' untranslated region is associated with multiple measures of blood pressure.
[PMID 19359258] Cohort profile: risk patterns and processes for psychopathology emerging during adolescence: the ROOTS project.
[PMID 19772600] A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data.
[PMID 20712049] Glucocorticoid receptor gene haplotype structure and steroid therapy outcome in IBD patients.
[PMID 21112363] Association of FKBP5 gene haplotypes with completed suicide in the Japanese population.
[PMID 21876507] Glucocorticoid receptor polymorphism is associated with lithium response in bipolar patients.
| ClinVar | |
|---|---|
| Risk | rs6196(G;G) |
| Alt | rs6196(G;G) |
| Reference | Rs6196(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Glucocorticoid resistance |
| Variation | info |
| Gene | NR3C1 |
| CLNDBN | Glucocorticoid resistance |
| Reversed | 0 |
| HGVS | NC_000005.9:g.142661490A>G |
| CLNSRC | |
| CLNACC | RCV000341438.1, |
[PMID 29207898] NR3C1 gene polymorphisms are associated with steroid resistance in patients with primary nephrotic syndrome.
[PMID 29587872] Sequencing the exons of human glucocorticoid receptor (NR3C1) gene in Han Chinese with high-altitude pulmonary edema.
