Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912838(A;G)

From SNPedia
(Redirected from I5004276(C;T))
Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
Is agenotype
ofrs121912838
GeneCOL7A1
Chromosome3
Position48,575,428
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.