rs6190
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs6190(A;A) |
Make rs6190(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 143400772 |
Gene | NR3C1 |
is a | snp |
is | mentioned by |
dbSNP | rs6190 |
dbSNP (classic) | rs6190 |
ClinGen | rs6190 |
ebi | rs6190 |
HLI | rs6190 |
Exac | rs6190 |
Gnomad | rs6190 |
Varsome | rs6190 |
LitVar | rs6190 |
Map | rs6190 |
PheGenI | rs6190 |
Biobank | rs6190 |
1000 genomes | rs6190 |
hgdp | rs6190 |
ensembl | rs6190 |
geneview | rs6190 |
scholar | rs6190 |
rs6190 | |
pharmgkb | rs6190 |
gwascentral | rs6190 |
openSNP | rs6190 |
23andMe | rs6190 |
SNPshot | rs6190 |
SNPdbe | rs6190 |
MSV3d | rs6190 |
GWAS Ctlg | rs6190 |
GMAF | 0.01331 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
The association reported in [PMID 20472303] was not replicated in [PMID 20680430].
[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 21633323] Variation in the glucocorticoid receptor gene (NR3C1) may be associated with corticosteroid dependency and resistance in children with Crohn's disease
[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 21803757] Genetic polymorphisms of the glucocorticoid receptor may affect the phenotype of women with anovulatory polycystic ovary syndrome.
[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 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
ClinVar | |
---|---|
Risk | rs6190(A;A) |
Alt | rs6190(A;A) |
Reference | Rs6190(G;G) |
Significance | Probable-non-pathogenic |
Disease | Glucocorticoid resistance |
Variation | info |
Gene | NR3C1 |
CLNDBN | Glucocorticoid resistance |
Reversed | 1 |
HGVS | NC_000005.9:g.142780337C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000317840.1, |
[PMID 33562675] The Glucocorticoid Receptor Gene (NR3C1) 9β SNP Is Associated with Posttraumatic Stress Disorder.