rs72552758
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | Congenital adrenal hyperplasia |
| (A;G) | 3 | Carrier of allele for congenital adrenal hyperplasia |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 32040919 |
| Gene | CYP21A2, TNXB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72552758 |
| dbSNP (classic) | rs72552758 |
| ClinGen | rs72552758 |
| ebi | rs72552758 |
| HLI | rs72552758 |
| Exac | rs72552758 |
| Gnomad | rs72552758 |
| Varsome | rs72552758 |
| LitVar | rs72552758 |
| Map | rs72552758 |
| PheGenI | rs72552758 |
| Biobank | rs72552758 |
| 1000 genomes | rs72552758 |
| hgdp | rs72552758 |
| ensembl | rs72552758 |
| geneview | rs72552758 |
| scholar | rs72552758 |
| rs72552758 | |
| pharmgkb | rs72552758 |
| gwascentral | rs72552758 |
| openSNP | rs72552758 |
| 23andMe | rs72552758 |
| SNPshot | rs72552758 |
| SNPdbe | rs72552758 |
| MSV3d | rs72552758 |
| GWAS Ctlg | rs72552758 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs72552758(A;A) |
| Alt | Rs72552758(A;A) |
| Reference | Rs72552758(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.32008696G>A |
| CLNSRC | |
| CLNACC | |
