rs268

A SNP in the LPL gene on chromosome 8. Its most notable genotype is G;G: 3X+ increased risk for venous thromboembolism

Gene
LPL
Location
Chr 819,956,018 (GRCh38)
Highest magnitude
2.1Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.099% of people
  2. A;GBad3X increased risk for venous thromboembolismWorth knowing · 2.0<1% of people
  3. G;GMost notableBad3X+ increased risk for venous thromboembolismWorth knowing · 2.10% of people

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 7 HapMap populations.

  • AverageA;A 99% A;G <1% G;G 0%
  • European ancestry (Utah)A;A 99% A;G <1% G;G 0%
  • Han Chinese (Beijing)A;A 100% A;G 0% G;G 0%
  • Japanese (Tokyo)A;A 100% A;G 0% G;G 0%
  • Yoruba (Nigeria)A;A 100% A;G 0% G;G 0%
  • African ancestry (Southwest US)A;A 98% A;G 2% G;G 0%
  • Gujarati IndianA;A 99% A;G 1% G;G 0%
  • TuscanA;A 98% A;G 2% G;G 0%

Notes

From SNPedia

Show notes, about 250 words

rs268, also known as LPL Asn291Ser as well as LPL N291S or N318S, a SNP in the lipoprotein lipase LPL gene, has been linked to increased susceptibility to hypertriglyceridemia, heart disease, Type-2 diabetes, idiopathic venous thromboembolism. A systematic review and meta-analysis of the relationship between lipoprotein lipase Asn291Ser variant and diseases. The summary standardized mean difference (SMD) of plasma triglyceride (TG) for carriers compared with noncarriers of the Asn291Ser variant was 3.23 (P < 0.00001). The summary SMD of plasma HDL-cholsterol (HDL-C) for carriers compared with noncarriers of the Asn291Ser variant was -3.42 (P < 0.0001). The summary SMD of the association of the Asn291Ser variant with plasma TG increased with increasing age and weight gain. Significant interactions between the LPL Asn291Ser variant and fasting glucose, T2DM, and CHD (Coronary Heart Disease) were seen (P = 0.02, 0.04, and 0.01, respectively). A study of 300+ individuals resulted in an odds ratio of 3.09 (CI: 1.56-6.09, p=0.001) for carriers of a rs268(G) allele. Note: Also known as LPL p.Asn291Ser as well as p.Asn318Ser because of a change in numbering of the bases in the LPL gene in the Human Reference Sequence Build 37. References: *Lipoproteins: Structure, Metabolism, Function and Therapeutics *N318S - GET-Evidence Heterozygous N291S carriers are less insulin sensitive and have increased plasma levels of nonesterified fatty acids and triglycerides compared to non-carriers.

Source and license

Adapted from rs268 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.