rs121912771(A;G)
From SNPedia
| Carrier of a junctional Epidermolysis bullosa mutation |
| Is a | genotype |
| of | rs121912771 |
| Gene | COL17A1 |
| Chromosome | 10 |
| Position | 104,034,193 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a junctional Epidermolysis bullosa mutation |
| (G;G) | 0 | common in clinvar |
Unaffected in absence of a second COL17A1 gene mutation
