rs387906567
A SNP in the APOE gene on chromosome 19. Its most notable genotype is C;T: Familial type 3 hyperlipoproteinemia
- Gene
- APOE
- Location
- Chr 1944,908,774 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other APOE SNPs
- rs121918393A;ATwo copies of ApoE3 Christchurch variant (apparently)Very important
- rs121918394A;GHyperlipoproteinemia, type IIIVery important
- rs267606664A;GRare ApoE1 allele; clinical significance unclearVery important
- i5000217C;Tfamilial hyperlipoproteinemia, type IIIImportant
- rs199768005A;TMarked reduced risk of Alzheimer's DiseaseWorth knowing
- rs449647T;Tlower levels of ApoEWorth knowing
- rs429358C;Cone of 2 snps relevant to classifying APOE genotypeMinor
- rs7412C;Cpart of APOE4 genoset evaluationMinor
Notes
From SNPedia
Notes
rs387906567, also known as c.478C>T, Arg160Cys and R160C, is a SNP in the APOE gene on chromosome 19. The less common allele, rs387906567(T), is normally found in a haplotype consisting of it and rs429358(C), the less common allele for that APOE SNP as well. Together, this haplotype is reported to be inherited in an autosomal dominant manner, leading to familial hyperlipoproteinemia, type III.. Subsequent studies have implicated the Arg160Cys change in this haplotype as being responsible for the defective lipoprotein binding associated with that condition. See also: OMIM 107741.0008 In 23andMe data, rs387906567 is referred to as i5000217 and i6007504.
Source and license
Adapted from rs387906567 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.