rs121912839(A;G)
From SNPedia
Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
Is a | genotype |
of | rs121912839 |
Gene | COL7A1 |
Chromosome | 3 |
Position | 48,572,712 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
(G;G) | 0 | common in clinvar |
Unaffected in absence of a second COL7A1 mutation; see ClinVar sidebar on main SNP page.