rs398122818
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs398122818(-;-) |
| Make rs398122818(-;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 9245259 |
| Gene | H6PD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398122818 |
| dbSNP (classic) | rs398122818 |
| ClinGen | rs398122818 |
| ebi | rs398122818 |
| HLI | rs398122818 |
| Exac | rs398122818 |
| Gnomad | rs398122818 |
| Varsome | rs398122818 |
| LitVar | rs398122818 |
| Map | rs398122818 |
| PheGenI | rs398122818 |
| Biobank | rs398122818 |
| 1000 genomes | rs398122818 |
| hgdp | rs398122818 |
| ensembl | rs398122818 |
| geneview | rs398122818 |
| scholar | rs398122818 |
| rs398122818 | |
| pharmgkb | rs398122818 |
| gwascentral | rs398122818 |
| openSNP | rs398122818 |
| 23andMe | rs398122818 |
| SNPshot | rs398122818 |
| SNPdbe | rs398122818 |
| MSV3d | rs398122818 |
| GWAS Ctlg | rs398122818 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs398122818(-;-) |
| Alt | rs398122818(-;-) |
| Reference | Rs398122818(C;C) |
| Significance | Pathogenic |
| Disease | Cortisone reductase deficiency 1 |
| Variation | info |
| Gene | H6PD |
| CLNDBN | Cortisone reductase deficiency 1 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.9305318delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024293.28, |
