RS12720855 APOB

Health Risk Chr 2:21006987 snv missense variant
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Associated Conditions
Hypercholesterolemia
familial
1
autosomal dominant
type B
Familial hypobetalipoproteinemia 1
Cardiovascular phenotype
Familial hypercholesterolemia
Hypercholesterolemia
familial
1
autosomal dominant
type B
Familial hypobetalipoproteinemia 1
Cardiovascular phenotype
Population Frequencies
gnomAD ALL
99.9%
1kG AFR
8.2%
1kG ALL
2.2%
1kG AMR
0.4%
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