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