rs28942111(A;T)
From SNPedia
Familial hypercholesterolemia |
Is a | genotype |
of | rs28942111 |
Gene | PCSK9 |
Chromosome | 1 |
Position | 55,044,016 |
mentioned | by |
Magnitude | 4.5 |
Repute | Bad |
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.