rs80358216(A;G)
From SNPedia
Unaffected carrier of a 3HSDB2 deficiency mutation |
Is a | genotype |
of | rs80358216 |
Gene | HSD3B2 |
Chromosome | 1 |
Position | 119,422,013 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 7 | 3HSDB2 deficiency; congenital adrenal hyperplasia |
(A;G) | 3 | Unaffected carrier of a 3HSDB2 deficiency mutation |
(G;G) | 0 | common in clinvar |
see discussion at HSD3B2