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