rs138504221(A;G)
From SNPedia
| Carrier of a Sanfilippo syndrome type A mutation |
| Is a | genotype |
| of | rs138504221 |
| Gene | SGSH |
| Chromosome | 17 |
| Position | 80,212,128 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a Sanfilippo syndrome type A mutation |
Unaffected unless carrying another pathogenic SGSH gene mutation
