i5003811
From SNPedia
| 23andMe data | I5003811 |
| 23andMe search | I5003811 |
| opensnp | I5003811 |
| Gene (via rs) | HSD3B2 |
| alias | rs80358221 |
| Rs_StabilizedOrientation | plus |
| RsGeno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Unaffected carrier of a 3HSDB2 deficiency mutation |
| (T;T) | 7 | 3HSDB2 deficiency; congenital adrenal hyperplasia |
3HSDB2 deficiency based on HSD3B2 mutation; congenital adrenal hyperplasia, recessively inherited
