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rs56149945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs56149945(A;G)
Make rs56149945(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position143399752
GeneNR3C1
is asnp
is mentioned by
dbSNPrs56149945
ebirs56149945
HLIrs56149945
Exacrs56149945
Varsomers56149945
Maprs56149945
PheGenIrs56149945
hapmaprs56149945
1000 genomesrs56149945
hgdprs56149945
ensemblrs56149945
gopubmedrs56149945
geneviewrs56149945
scholarrs56149945
googlers56149945
pharmgkbrs56149945
gwascentralrs56149945
openSNPrs56149945
23andMers56149945
23andMe allrs56149945
SNP Nexus

SNPshotrs56149945
SNPdbers56149945
MSV3drs56149945
GWAS Ctlgrs56149945
Merged fromRs6195
GMAF0.008264
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 20440229] Glucocorticoid receptor gene polymorphisms in Italian patients with eating disorders and obesity

OMIM138040
Desc
Variant0007
Relatedalso
ClinVar
Risk rs56149945(G;G)
Alt rs56149945(G;G)
Reference rs56149945(A;A)
Significance Non-pathogenic
Disease GLUCOCORTICOID RECEPTOR POLYMORPHISM
Variation info
Gene NR3C1
CLNDBN GLUCOCORTICOID RECEPTOR POLYMORPHISM
Reversed 1
HGVS NC_000005.9:g.142779317T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017532.3,


[PMID 20712049OA-icon.png] Glucocorticoid receptor gene haplotype structure and steroid therapy outcome in IBD patients.

GET Evidence
NR3C1-N363S
aa_change Asn363Ser
aa_change_short N363S
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0217513
summary


[PMID 23055001] Genetic evidence for the association of the hypothalamic-pituitary-adrenal (HPA) axis with ADHD and methylphenidate treatment response.