rs202242769
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs202242769(A;A) |
| Make rs202242769(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 6 |
| Position | 32040723 |
| Gene | CYP21A2, TNXB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202242769 |
| dbSNP (classic) | rs202242769 |
| ClinGen | rs202242769 |
| ebi | rs202242769 |
| HLI | rs202242769 |
| Exac | rs202242769 |
| Gnomad | rs202242769 |
| Varsome | rs202242769 |
| LitVar | rs202242769 |
| Map | rs202242769 |
| PheGenI | rs202242769 |
| Biobank | rs202242769 |
| 1000 genomes | rs202242769 |
| hgdp | rs202242769 |
| ensembl | rs202242769 |
| geneview | rs202242769 |
| scholar | rs202242769 |
| rs202242769 | |
| pharmgkb | rs202242769 |
| gwascentral | rs202242769 |
| openSNP | rs202242769 |
| 23andMe | rs202242769 |
| SNPshot | rs202242769 |
| SNPdbe | rs202242769 |
| MSV3d | rs202242769 |
| GWAS Ctlg | rs202242769 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs202242769(A;A) |
| Alt | rs202242769(A;A) |
| Reference | Rs202242769(G;G) |
| Significance | Probable-Pathogenic |
| Disease | 21-hydroxylase deficiency |
| Variation | info |
| Gene | TNXB CYP21A2 |
| CLNDBN | 21-hydroxylase deficiency |
| Reversed | 0 |
| HGVS | NC_000006.11:g.32008500G>A |
| CLNSRC | |
| CLNACC | RCV000490344.1, |
