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rs121912856(A;G)

From SNPedia
Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
Is agenotype
ofrs121912856
GeneCOL7A1
Chromosome3
Position48,593,538
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation

Unaffected in absence of a second COL7A1 mutation; see ClinVar sidebar on main SNP page.