rs80358221(T;T)
From SNPedia
3HSDB2 deficiency; congenital adrenal hyperplasia |
Is a | genotype |
of | rs80358221 |
Gene | HSD3B2 |
Chromosome | 1 |
Position | 119,422,277 |
mentioned | by |
Magnitude | 7 |
Repute | Bad |
Geno | 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 |
see HSD3B2