rs121908102(C;T)
From SNPedia
| Carrier of a cholestanol storage disease mutation |
| Is a | genotype |
| of | rs121908102 |
| Gene | CYP27A1 |
| Chromosome | 2 |
| Position | 218,813,095 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a cholestanol storage disease mutation |
Unaffected in absence of a second CYP27A1 gene mutation
