i4000339
A SNP in the APOB gene on chromosome 2. Its most notable genotype is A;A: Familial Hypercholesterolemia Type B
- Gene
- APOB
- Location
- Chr 221,229,161 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadFamilial Hypercholesterolemia Type B
- A;GBadFamilial Hypercholesterolemia Type B carrier
- G;GGoodnormal
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other APOB SNPs
- rs5742904A;CFamilial HypercholesterolemiaVery important
- rs144467873A;Afamilial hypercholesterolemiaVery important
- rs730880052G;TFamilial HypercholesterolemiaVery important
- rs886039829-;THypercholesterolemia, Type B; heterozygoteImportant
- rs12713559A;Gcarrier of possible familial hypercholesterolemia mutationImportant
- rs121918383A;GCarrier of a hypobetalipoproteinemia mutationImportant
- rs121918384-;GTCarrier of a hypobetalipoproteinemia mutationImportant
- rs121918385-;CCarrier of a hypobetalipoproteinemia mutationImportant
Notes
From SNPedia
Notes
Familial Hypercholesterolemia Type B rs144467873
A;A
Familial Hypercholesterolemia Type B
A;G
Familial Hypercholesterolemia carrier
Source and license
Adapted from i4000339 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.