rs137853146(C;T)
From SNPedia
| Carrier of an Ehlers-Danlos syndrome type VII mutation |
| Is a | genotype |
| of | rs137853146 |
| Gene | ADAMTS2 |
| Chromosome | 5 |
| Position | 179,272,926 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of an Ehlers-Danlos syndrome type VII mutation |
Unaffected in absence of a second ADAMTS2 gene mutation
