RS137878146 PCSK9

Health Risk Chr 1:55046621 snv missense variant
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Associated Conditions
Familial hypercholesterolemia
Hypercholesterolemia
autosomal dominant
3
Hypobetalipoproteinemia
Cardiovascular phenotype
Familial hypercholesterolemia
Hypercholesterolemia
autosomal dominant
3
Hypobetalipoproteinemia
Cardiovascular phenotype
Population Frequencies
gnomAD ALL
100%
1kG AFR
0.1%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in PCSK9
rs28942111 rs28942112 rs137852912 rs67608943 rs28362286 rs793888521 rs794728683 rs141502002 rs374603772 rs41297883
Ask Dr. Hemsworth about this variant