rs117447608(A;G)
From SNPedia
| Pathogenicity unclear; possible carrier of a Joubert syndrome mutation |
| Is a | genotype |
| of | rs117447608 |
| Gene | AHI1 |
| Chromosome | 6 |
| Position | 135,318,577 |
| mentioned | by |
| Magnitude | 2 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 2 | Pathogenicity unclear; possible carrier of a Joubert syndrome mutation |
| (G;G) | 0 | common in clinvar |
Unaffected in absence of another AHI1 gene mutation, and even then, see rs117447608 for a discussion of whether the minor allele is pathogenic at all.
