rs113994140(A;G)
From SNPedia
| Carrier of a progressive myoclonic epilepsy-1B mutation |
| Is a | genotype |
| of | rs113994140 |
| Gene | PRICKLE1 |
| Chromosome | 12 |
| Position | 42,469,523 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a progressive myoclonic epilepsy-1B mutation |
| (G;G) | 0 | common in clinvar |
Unaffected in absence of a second PRICKLE1 gene mutation
