rs121912847(C;T)
From SNPedia
| Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
| Is a | genotype |
| of | rs121912847 |
| Gene | COL7A1 |
| Chromosome | 3 |
| Position | 48,581,271 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
Unaffected in absence of a second COL7A1 mutation; see ClinVar sidebar on main SNP page.
