rs770815049
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common/normal |
| (-;C) | 3 | Unaffected carrier of a 3HSDB2 deficiency mutation |
| (C;C) | 7 | 3HSDB2 deficiency; congenital adrenal hyperplasia |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 119422056 |
| Gene | HSD3B2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs770815049 |
| dbSNP (classic) | rs770815049 |
| ClinGen | rs770815049 |
| ebi | rs770815049 |
| HLI | rs770815049 |
| Exac | rs770815049 |
| Gnomad | rs770815049 |
| Varsome | rs770815049 |
| LitVar | rs770815049 |
| Map | rs770815049 |
| PheGenI | rs770815049 |
| Biobank | rs770815049 |
| 1000 genomes | rs770815049 |
| hgdp | rs770815049 |
| ensembl | rs770815049 |
| geneview | rs770815049 |
| scholar | rs770815049 |
| rs770815049 | |
| pharmgkb | rs770815049 |
| gwascentral | rs770815049 |
| openSNP | rs770815049 |
| 23andMe | rs770815049 |
| SNPshot | rs770815049 |
| SNPdbe | rs770815049 |
| MSV3d | rs770815049 |
| GWAS Ctlg | rs770815049 |
| Max Magnitude | 7 |
rs770815049, also known as c.555_556insC and p.Thr187Hisfs, represents a rare mutation in the HSD3B2 gene on chromosome 1.
