rs104894643(C;G)
From SNPedia
| Carrier of a Sanfilippo syndrome type A mutation |
| Is a | genotype |
| of | rs104894643 |
| Gene | SGSH |
| Chromosome | 17 |
| Position | 80,214,218 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 3 | Carrier of a Sanfilippo syndrome type A mutation |
| (G;G) | 0 | common in clinvar |
Unaffected unless carrying another pathogenic SGSH gene mutation
