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rs121912828(A;T)

From SNPedia
Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
Is agenotype
ofrs121912828
GeneCOL7A1
Chromosome3
Position48,566,281
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;T) 3 Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
(T;T) 0 common in clinvar

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