rs258751
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs258751(C;T) |
Make rs258751(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 143282715 |
Gene | NR3C1 |
is a | snp |
is | mentioned by |
dbSNP | rs258751 |
dbSNP (classic) | rs258751 |
ClinGen | rs258751 |
ebi | rs258751 |
HLI | rs258751 |
Exac | rs258751 |
Gnomad | rs258751 |
Varsome | rs258751 |
LitVar | rs258751 |
Map | rs258751 |
PheGenI | rs258751 |
Biobank | rs258751 |
1000 genomes | rs258751 |
hgdp | rs258751 |
ensembl | rs258751 |
geneview | rs258751 |
scholar | rs258751 |
rs258751 | |
pharmgkb | rs258751 |
gwascentral | rs258751 |
openSNP | rs258751 |
23andMe | rs258751 |
SNPshot | rs258751 |
SNPdbe | rs258751 |
MSV3d | rs258751 |
GWAS Ctlg | rs258751 |
Max Magnitude | 0 |
[PMID 25802476] The Affymetrix DMET Plus Platform Reveals Unique Distribution of ADME-Related Variants in Ethnic Arabs
ClinVar | |
---|---|
Risk | rs258751(A;A) rs258751(G;G) rs258751(T;T) |
Alt | rs258751(A;A) rs258751(G;G) rs258751(T;T) |
Reference | Rs258751(C;C) |
Significance | Probable-non-pathogenic |
Disease | Glucocorticoid resistance |
Variation | info |
Gene | NR3C1 |
CLNDBN | Glucocorticoid resistance |
Reversed | 1 |
HGVS | NC_000005.9:g.142662280G>A |
CLNSRC | |
CLNACC | RCV000340315.1, |
[PMID 29207898] NR3C1 gene polymorphisms are associated with steroid resistance in patients with primary nephrotic syndrome.