rs104894642(C;T)
From SNPedia
Carrier of a Sanfilippo syndrome type A mutation |
Is a | genotype |
of | rs104894642 |
Gene | SGSH |
Chromosome | 17 |
Position | 80,214,738 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a Sanfilippo syndrome type A mutation |
Unaffected unless carrying another pathogenic SGSH gene mutation