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rs121912840(C;G)

From SNPedia
(Redirected from I5004274(C;G))
Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
Is agenotype
ofrs121912840
GeneCOL7A1
Chromosome3
Position48,581,483
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;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.