rs7769409
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | miscallled by 23andMe, but should indicate being a carrier of allele for congenital adrenal hyperplasia |
| (T;T) | 5 | Congenital adrenal hyperplasia |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 32040535 |
| Gene | CYP21A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7769409 |
| dbSNP (classic) | rs7769409 |
| ClinGen | rs7769409 |
| ebi | rs7769409 |
| HLI | rs7769409 |
| Exac | rs7769409 |
| Gnomad | rs7769409 |
| Varsome | rs7769409 |
| LitVar | rs7769409 |
| Map | rs7769409 |
| PheGenI | rs7769409 |
| Biobank | rs7769409 |
| 1000 genomes | rs7769409 |
| hgdp | rs7769409 |
| ensembl | rs7769409 |
| geneview | rs7769409 |
| scholar | rs7769409 |
| rs7769409 | |
| pharmgkb | rs7769409 |
| gwascentral | rs7769409 |
| openSNP | rs7769409 |
| 23andMe | rs7769409 |
| SNPshot | rs7769409 |
| SNPdbe | rs7769409 |
| MSV3d | rs7769409 |
| GWAS Ctlg | rs7769409 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs7769409(T;T) |
| Alt | Rs7769409(T;T) |
| Reference | Rs7769409(C;C) |
| Significance | Pathogenic |
| Disease | 21-hydroxylase deficiency |
| Variation | info |
| Gene | CYP21A2 |
| CLNDBN | 21-hydroxylase deficiency |
| Reversed | 0 |
| HGVS | NC_000006.11:g.32008312C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012937.3, RCV000417198.1, |
