rs6198
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs6198(A;G) |
Make rs6198(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 143278056 |
Gene | NR3C1 |
is a | snp |
is | mentioned by |
dbSNP | rs6198 |
dbSNP (classic) | rs6198 |
ClinGen | rs6198 |
ebi | rs6198 |
HLI | rs6198 |
Exac | rs6198 |
Gnomad | rs6198 |
Varsome | rs6198 |
LitVar | rs6198 |
Map | rs6198 |
PheGenI | rs6198 |
Biobank | rs6198 |
1000 genomes | rs6198 |
hgdp | rs6198 |
ensembl | rs6198 |
geneview | rs6198 |
scholar | rs6198 |
rs6198 | |
pharmgkb | rs6198 |
gwascentral | rs6198 |
openSNP | rs6198 |
23andMe | rs6198 |
SNPshot | rs6198 |
SNPdbe | rs6198 |
MSV3d | rs6198 |
GWAS Ctlg | rs6198 |
GMAF | 0.09229 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
rs6198 (A3669G) is a SNP located within exon 9 beta of the NR3C1 (Nuclear receptor subfamily 3, group C, member 1 [glucocorticoid receptor]) gene.
[PMID 18663733] rs10482605(C) and rs6198 form a haplotype responsible for both regulation of glucocorticoid expression and mRNA stability and therefore theorized to be associated with major depression.
journal significant blood pressure associations of a haplotype that is distinguished by rs6198 A/G.
[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 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 18830906] Glucocorticoid receptor variants may predispose to rheumatoid arthritis susceptibility.
[PMID 17532759] Glucocorticoid receptor gene polymorphisms and susceptibility to rheumatoid arthritis.
[PMID 18854398] Glucocorticoid receptor gene variant in the 3' untranslated region is associated with multiple measures of blood pressure.
[PMID 20199670] Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study.
[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 21146942] Glucocorticoid receptor-9beta polymorphism is associated with systolic blood pressure and heart growth during early childhood. The Generation R Study.
[PMID 21232135] Glucocorticoid receptor gene polymorphism and juvenile idiopathic arthritis.
[PMID 21448414] Molecular mechanism of glucocorticoid resistance in inflammatory bowel disease.
[PMID 21764460] Glucocorticoid receptor polymorphism is associated with major depression and predominance of depression in the course of bipolar disorder.
[PMID 21803757] Genetic polymorphisms of the glucocorticoid receptor may affect the phenotype of women with anovulatory polycystic ovary syndrome.
[PMID 21876507] Glucocorticoid receptor polymorphism is associated with lithium response in bipolar patients.
[PMID 22083731] Genetic modulation of neural response during working memory in healthy individuals: interaction of glucocorticoid receptor and dopaminergic genes.
[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.
[PMID 23543128] MR and GR functional SNPs may modulate tobacco smoking susceptibility.
[PMID 24856550] FKBP5 polymorphism is associated with major depression but not with bipolar disorder
[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 25843653] GLCCI1 and Glucocorticoid Receptor Genetic Diversity and Response to Glucocorticoid-Based Treatment of Graft-versus-Host Disease.
ClinVar | |
---|---|
Risk | rs6198(G;G) |
Alt | rs6198(G;G) |
Reference | Rs6198(A;A) |
Significance | Probable-non-pathogenic |
Disease | Glucocorticoid resistance |
Variation | info |
Gene | NR3C1 |
CLNDBN | Glucocorticoid resistance |
Reversed | 1 |
HGVS | NC_000005.9:g.142657621T>C |
CLNSRC | |
CLNACC | RCV000261556.1, |
[PMID 30043490] The influence of glucocorticoid receptor single nucleotide polymorphisms on outcome after haematopoietic stem cell transplantation.
[PMID 33562675] The Glucocorticoid Receptor Gene (NR3C1) 9β SNP Is Associated with Posttraumatic Stress Disorder.