rs56149945
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs56149945(A;G) |
Make rs56149945(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 143399752 |
Gene | NR3C1 |
is a | snp |
is | mentioned by |
dbSNP | rs56149945 |
dbSNP (classic) | rs56149945 |
ClinGen | rs56149945 |
ebi | rs56149945 |
HLI | rs56149945 |
Exac | rs56149945 |
Gnomad | rs56149945 |
Varsome | rs56149945 |
LitVar | rs56149945 |
Map | rs56149945 |
PheGenI | rs56149945 |
Biobank | rs56149945 |
1000 genomes | rs56149945 |
hgdp | rs56149945 |
ensembl | rs56149945 |
geneview | rs56149945 |
scholar | rs56149945 |
rs56149945 | |
pharmgkb | rs56149945 |
gwascentral | rs56149945 |
openSNP | rs56149945 |
23andMe | rs56149945 |
SNPshot | rs56149945 |
SNPdbe | rs56149945 |
MSV3d | rs56149945 |
GWAS Ctlg | rs56149945 |
Merged from | Rs6195 |
GMAF | 0.008264 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 20440229] Glucocorticoid receptor gene polymorphisms in Italian patients with eating disorders and obesity
ClinVar | |
---|---|
Risk | rs56149945(G;G) rs56149945(T;T) |
Alt | rs56149945(G;G) rs56149945(T;T) |
Reference | Rs56149945(A;A) |
Significance | Probable-non-pathogenic |
Disease | GLUCOCORTICOID RECEPTOR POLYMORPHISM Glucocorticoid resistance |
Variation | info |
Gene | NR3C1 |
CLNDBN | GLUCOCORTICOID RECEPTOR POLYMORPHISM Glucocorticoid resistance |
Reversed | 1 |
HGVS | NC_000005.9:g.142779317T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017532.3, RCV000345541.1, |
[PMID 20712049] Glucocorticoid receptor gene haplotype structure and steroid therapy outcome in IBD patients. [PMID 23055001] Genetic evidence for the association of the hypothalamic-pituitary-adrenal (HPA) axis with ADHD and methylphenidate treatment response.