rs137853022(C;G)
From SNPedia
| carrier of familial dysautonomia mutation |
| Is a | genotype |
| of | rs137853022 |
| Gene | IKBKAP |
| Chromosome | 9 |
| Position | 108,900,303 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 7.7 | Familial dysautonomia |
| (C;G) | 3 | carrier of familial dysautonomia mutation |
| (G;G) | 0 | common in clinvar |
Unaffected in absence of another mutation in the IKBKAP gene; see discussion at familial dysautonomia
