rs778653296(A;C)
From SNPedia
| Carrier for a Schwartz Jampel syndrome mutation |
| Is a | genotype |
| of | rs778653296 |
| Gene | HSPG2 |
| Chromosome | 1 |
| Position | 21,851,790 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 7.8 | Schwartz Jampel syndrome type 1 |
| (A;C) | 3 | Carrier for a Schwartz Jampel syndrome mutation |
| (C;C) | 0 | common in clinvar |
Unaffected in absence of another pathogenic HSPG2 gene mutation. See details via ClinVar link on main SNP/rs# page.
