rs80338859(G;G)
From SNPedia
| common in clinvar |
| Is a | genotype |
| of | rs80338859 |
| Gene | DHCR7 |
| Chromosome | 11 |
| Position | 71,435,827 |
| mentioned | by |
| Magnitude | 0 |
| Repute | Good |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Likely miscall in 23andMe v4 data; otherwise: Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation |
| (T;T) | 9 | Miscall for 23andMe customers; otherwise, Smith-Lemli-Opitz syndrome |
