RS12691202 APOB

Health Risk Chr 2:21026843 snv missense variant

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Associated Conditions

Hypercholesterolemia

familial

Familial hypobetalipoproteinemia 1

Familial hypercholesterolemia

autosomal dominant

type B

Cardiovascular phenotype

Hypercholesterolemia

familial

Familial hypobetalipoproteinemia 1

Familial hypercholesterolemia

autosomal dominant

type B

GWAS Studies (3)

Trait	Risk Allele	OR / Beta	P-value	Study
Apolipoprotein B levels	T	OR: 0.16	2E-143	PubMed
Low density lipoprotein cholesterol levels	T	OR: 0.13	4E-99	PubMed
Total cholesterol levels	T	OR: 0.12	4E-85	PubMed

Population Frequencies

gnomAD ALL

3.3%

1kG AFR

99.9%

1kG ALL

1.4%

1kG AMR

97.8%

1kG EAS

100%

1kG EUR

5.4%

1kG SAS

99.9%

Other Variants in APOB