rs137852690(C;T)
From SNPedia
Carrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH) |
Is a | genotype |
of | rs137852690 |
Gene | STAR |
Chromosome | 8 |
Position | 38,145,313 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH) |
(T;T) | 9.1 | Lipoid congenital adrenal hyperplasia (LCAH); treatment required |
Unaffected in absence of a second mutation in the STAR gene; see STAR gene for discussion and ClinVar links.