rs9378252
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 1 | benign |
| (T;T) | 1 | benign |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 32038610 |
| Gene | CYP21A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9378252 |
| dbSNP (classic) | rs9378252 |
| ClinGen | rs9378252 |
| ebi | rs9378252 |
| HLI | rs9378252 |
| Exac | rs9378252 |
| Gnomad | rs9378252 |
| Varsome | rs9378252 |
| LitVar | rs9378252 |
| Map | rs9378252 |
| PheGenI | rs9378252 |
| Biobank | rs9378252 |
| 1000 genomes | rs9378252 |
| hgdp | rs9378252 |
| ensembl | rs9378252 |
| geneview | rs9378252 |
| scholar | rs9378252 |
| rs9378252 | |
| pharmgkb | rs9378252 |
| gwascentral | rs9378252 |
| openSNP | rs9378252 |
| 23andMe | rs9378252 |
| SNPshot | rs9378252 |
| SNPdbe | rs9378252 |
| MSV3d | rs9378252 |
| GWAS Ctlg | rs9378252 |
| Max Magnitude | 1 |
| ClinVar | |
|---|---|
| Risk | Rs9378252(T;T) |
| Alt | Rs9378252(T;T) |
| Reference | Rs9378252(A;A) |
| Significance | Pathogenic |
| Disease | 21-hydroxylase deficiency not specified |
| Variation | info |
| Gene | CYP21A2 |
| CLNDBN | 21-hydroxylase deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000006.11:g.32006387A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012965.3, RCV000173141.1, |
