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.
