rs12713559
A SNP in the APOB gene on chromosome 2. Its most notable genotype is A;G: carrier of possible familial hypercholesterolemia mutation
- Gene
- APOB
- Location
- Chr 221,006,196 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GMost notableBadcarrier of possible familial hypercholesterolemia mutation
SNPedia records rs12713559 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 6 HapMap populations.
- AverageG;G 99% A;G 1%
- European ancestry (Utah)G;G 100% A;G 0%
- Han Chinese (Beijing)G;G 100% A;G 0%
- Japanese (Tokyo)G;G 99% A;G <1%
- Yoruba (Nigeria)G;G 100% A;G 0%
- Luhya (Kenya)G;G 97% A;G 3%
- Mexican ancestry (Los Angeles)G;G 97% A;G 4%
Related
Conditions, medicines and genes
Other APOB SNPs
- i4000339A;AFamilial Hypercholesterolemia Type BVery important
- rs5742904A;CFamilial HypercholesterolemiaVery important
- rs144467873A;Afamilial hypercholesterolemiaVery important
- rs730880052G;TFamilial HypercholesterolemiaVery important
- rs886039829-;THypercholesterolemia, Type B; heterozygoteImportant
- rs121918383A;GCarrier of a hypobetalipoproteinemia mutationImportant
- rs121918384-;GTCarrier of a hypobetalipoproteinemia mutationImportant
- rs121918385-;CCarrier of a hypobetalipoproteinemia mutationImportant
Notes
From SNPedia
Notes
rs12713559, also known as c.10672C>T, p.Arg3558Cys, R3558C and R3531C, is a SNP in the APOB apolipoprotein B gene. The risk allele is A according to 23andMe, which tests for this SNP in regard to familial hypercholesterolemia type B, and where they note that the evidence is unclear about whether this mutation is causative on its own. In SNPedia, where we use the orientation as defined by dbSNP, the risk allele is rs12713559(T). Familial Hypercholesterolemia Type B
Source and license
Adapted from rs12713559 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.