rs5742904

A SNP in the APOB gene on chromosome 2. Its most notable genotype is A;C: Familial Hypercholesterolemia

Gene
APOB
Location
Chr 221,006,288 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TBadHypercholesterolemia, Type B; homozygoteVery important · 4.00% of people
  2. C;TBadHypercholesterolemia, Type B; heterozygoteImportant · 3.10% of people
  3. C;CGoodnormalTypical · 0.0100% of people
  4. A;CMost notableBadFamilial HypercholesterolemiaVery important · 5.00% of people

SNPedia records rs5742904 on the minus strand: (A;A), (A;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageT;T 0% C;T 0% C;C 100% A;C 0%
  • European ancestry (Utah)T;T 0% C;T 0% C;C 100% A;C 0%
  • Han Chinese (Beijing)T;T 0% C;T 0% C;C 100% A;C 0%
  • Japanese (Tokyo)T;T 0% C;T 0% C;C 100% A;C 0%
  • Yoruba (Nigeria)T;T 0% C;T 0% C;C 100% A;C 0%

Conditions, medicines and genes

Other APOB SNPs

All APOB SNPs

Notes

From SNPedia

Notes

rs5742904, also known as c.10580G>A, p.Arg3527Gln, R3527Q or R3500Q, is a SNP in the APOB apolipoprotein B gene. Note an alternative allele, c.10580G>T, which is also considered pathogenic. The risk allele is T according to 23andMe, which tests for this SNP in regard to familial hypercholesterolemia type B. In SNPedia, where we use the orientation as defined by dbSNP, the risk allele is rs5742904(A). This variant is considered to the most frequent APOB gene FH mutation in Caucasians. For a clinical case discussion of this SNP, see 'Clinical Case 2' within Box 1 of . Familial Hypercholesterolemia Type B

C;T

Check cholesterol levels; if high, increased risk of cardiovascular disease.

Source and license

Adapted from rs5742904 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.