rs730880052
A SNP in the APOB gene on chromosome 2. Its most notable genotype is G;T: Familial Hypercholesterolemia
- Gene
- APOB
- Location
- Chr 221,006,681 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;TMost notableBadFamilial Hypercholesterolemia
- G;GGoodcommon in clinvar
SNPedia records rs730880052 on the minus strand: (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other APOB SNPs
- i4000339A;AFamilial Hypercholesterolemia Type BVery important
- rs5742904A;CFamilial HypercholesterolemiaVery important
- rs144467873A;Afamilial 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
aka c.10187C>A (p.Ala3396Asp)
Source and license
Adapted from rs730880052 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.