rs145588689(C;G)
From SNPedia
| Carrier for Aicardi-Goutieres syndrome mutation |
| Is a | genotype |
| of | rs145588689 |
| Gene | ADAR |
| Chromosome | 1 |
| Position | 154,602,065 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 8 | Aicardi-Goutieres syndrome? (pathogenicity unclear) |
| (C;G) | 3 | Carrier for Aicardi-Goutieres syndrome mutation |
| (G;G) | 0 | common in clinvar |
Unaffected in absence of another ADAR gene mutation; see rs145588689
