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rs28942112(C;T)

From SNPedia

Familial hypercholesterolemia
Is agenotype
ofrs28942112
GenePCSK9
Chromosome1
Position55,052,400
mentionedby
Magnitude4.5
ReputeBad
Geno Mag Summary
(C;T) 4.5 Familial hypercholesterolemia
(T;T) 0 common in clinvar

The rs28942112(C) allele is reported to lead to autosomal dominantly inherited familial hypercholesterolemia. See discussion at rs28942112.