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rs121912839(A;G)

From SNPedia
Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
Is agenotype
ofrs121912839
GeneCOL7A1
Chromosome3
Position48,572,712
mentionedby
Magnitude3
ReputeBad
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.