rs80338794(T;T)
From SNPedia
| Salla disease |
| Is a | genotype |
| of | rs80338794 |
| Gene | SLC17A5 |
| Chromosome | 6 |
| Position | 73,644,583 |
| mentioned | by |
| Magnitude | 5 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Finnish major Salla disease mutation carrier |
| (T;T) | 5 | Salla disease |
This genotype results in Salla disease, as a homozygous carrier of the Salla disease mutation most prevalent in Finland.
