rs111033571(C;T)
From SNPedia
| Carrier of a Bardet-Biedl syndrome mutation |
| Is a | genotype |
| of | rs111033571 |
| Gene | ASTN2, TRIM32 |
| Chromosome | 9 |
| Position | 116,698,130 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Bardet-Biedl syndrome mutation |
| (T;T) | 5 | Bardet-Biedl syndrome 11 (reported) |
Unaffected in absence of a second TRIM32 gene mutation
