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rs28942111(A;T)

From SNPedia

Familial hypercholesterolemia
Is agenotype
ofrs28942111
GenePCSK9
Chromosome1
Position55,044,016
mentionedby
Magnitude4.5
ReputeBad
Geno Mag Summary
(A;T) 4.5 Familial hypercholesterolemia
(T;T) 0 common in clinvar

The rs28942111(A) allele is reported to be a dominant mutation leading to familial hypercholesterolemia. See rs28942111 for more information.