RS12714192 APOB

Health Risk Chr 2:21026809 snv missense variant
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Associated Conditions
Hypercholesterolemia
familial
1
Familial hypobetalipoproteinemia 1
autosomal dominant
type B
Cardiovascular phenotype
Familial hypercholesterolemia
Hypercholesterolemia
familial
1
Familial hypobetalipoproteinemia 1
autosomal dominant
type B
Cardiovascular phenotype
Population Frequencies
gnomAD ALL
99.8%
1kG AFR
92.3%
1kG ALL
97.8%
1kG AMR
99.1%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in APOB
rs281865425 rs397514255 rs121918383 rs121918384 rs121918385 rs121918386 rs387906569 rs397514256 rs5742904 rs121918387
Ask Dr. Hemsworth about this variant