rs104894152(A;C)
From SNPedia
Carrier of a complete combined 17-alpha-hydroxylase/17,20-lyase deficiency mutation |
Is a | genotype |
of | rs104894152 |
Gene | CYP17A1 |
Chromosome | 10 |
Position | 102,837,281 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 6.6 | Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency |
(A;C) | 3 | Carrier of a complete combined 17-alpha-hydroxylase/17,20-lyase deficiency mutation |
(C;C) | 0 | common in clinvar |
Unaffected in absence of a second mutation in the CYP17A1 gene