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rs6195

From SNPedia

Merged intors56149945
Orientationminus
Stabilizedplus
Geno Mag Summary
(T;T) 0
Make rs6195(A;A)
Make rs6195(A;G)
Make rs6195(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position143399752
GeneNR3C1
is asnp
is mentioned by
dbSNPrs6195
ebirs6195
HLIrs6195
Exacrs6195
Varsomers6195
Maprs6195
PheGenIrs6195
hapmaprs6195
1000 genomesrs6195
hgdprs6195
ensemblrs6195
gopubmedrs6195
geneviewrs6195
scholarrs6195
googlers6195
pharmgkbrs6195
gwascentralrs6195
openSNPrs6195
23andMers6195
23andMe allrs6195
SNP Nexus

SNPshotrs6195
SNPdbers6195
MSV3drs6195
GWAS Ctlgrs6195
StatusMerged into rs56149945
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs6195 (Asn363Ser/N363S) is a SNP within the NR3C1 (Nuclear receptor subfamily 3, group C, member 1 [glucocorticoid receptor]) gene. The common A allele encodes for Asparagine and the less common G allele encodes for Serine.

Abstract linked to increased glucocorticoid sensitivity, coronary artery disease, and increased body mass index.

OMIM138040
DescGLUCOCORTICOID RECEPTOR POLYMORPHISM
Variant0007
Relatedalso


[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 20547006] FKBP5 and resistant attachment predict cortisol reactivity in infants: Gene-environment interaction


[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 17535992OA-icon.png] Molecular evidence for a link between the N363S glucocorticoid receptor polymorphism and altered gene expression.

[PMID 18854398OA-icon.png] Glucocorticoid receptor gene variant in the 3' untranslated region is associated with multiple measures of blood pressure.

[PMID 18952539] No association of glucocorticoid receptor polymorphisms with asthma and response to glucocorticoids.

[PMID 19673019OA-icon.png] IL-10 and TNF-alpha promoter haplotypes are associated with childhood Crohn's disease location.

[PMID 20015871OA-icon.png] Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia.

[PMID 20199670OA-icon.png] Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study.

[PMID 20592916OA-icon.png] Pharmacogenomic approaches to asthma treatment.

[PMID 21448414OA-icon.png] 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 21876507] Glucocorticoid receptor polymorphism is associated with lithium response in bipolar patients.


[PMID 22781842OA-icon.png] Variation in the glucocorticoid receptor gene at rs41423247 moderates the effect of prenatal maternal psychological symptoms on child cortisol reactivity and behavior


[PMID 25709928OA-icon.png] Clinical relevance of the glucocorticoid receptor gene polymorphisms in glucocorticoid-induced ocular hypertension and primary open angle glaucoma


[PMID 25724472OA-icon.png] 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.