rs121912830(A;C)
From SNPedia
| Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
| Is a | genotype |
| of | rs121912830 |
| Gene | COL7A1 |
| Chromosome | 3 |
| Position | 48,592,613 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
| (C;C) | 0 | common in clinvar |
Unaffected in absence of a second COL7A1 mutation; see ClinVar sidebar on main SNP page.
