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.