rs28939712(C;T)
From SNPedia
| carrier of familial dysautonomia mutation |
| Is a | genotype |
| of | rs28939712 |
| Gene | IKBKAP |
| Chromosome | 9 |
| Position | 108,894,062 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of familial dysautonomia mutation |
| (T;T) | 7.7 | Familial dysautonomia |
Unaffected in absence of another mutation in the IKBKAP gene; see discussion at familial dysautonomia
