rs7080536

A SNP in the HABP2 gene on chromosome 10. Its most notable genotype is A;A: significant increase (2 - 6x?) in risk possible for carotid stenosis, stroke and venous thromboembolism

Gene
HABP2
Location
Chr 10113,588,287 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadsignificant increase (2 - 6x?) in risk possible for carotid stenosis, stroke and venous thromboembolismImportant · 3.0<1% of people
  2. A;GBad~2x higher risk for carotid stenosis, venous thromboembolismWorth knowing · 2.11% of people
  3. G;GGoodcommon in clinvarTypical · 0.098% 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 9 HapMap populations.

  • AverageA;A <1% A;G 1% G;G 98%
  • European ancestry (Utah)A;A 0% A;G 4% G;G 97%
  • Han Chinese (Beijing)A;A 0% A;G <1% G;G 99%
  • Japanese (Tokyo)A;A 0% A;G <1% G;G 99%
  • Yoruba (Nigeria)A;A 0% A;G 0% G;G 100%
  • Chinese (Denver)A;A 0% A;G <1% G;G 99%
  • Gujarati IndianA;A 0% A;G 1% G;G 99%
  • Luhya (Kenya)A;A <1% A;G 0% G;G 99%
  • Mexican ancestry (Los Angeles)A;A 0% A;G 3% G;G 97%
  • TuscanA;A 0% A;G 3% G;G 97%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 270 words

rs7080536, also known as c.1601G>A, p.Gly534Glu and G534E, is a variant in the HABP2 gene on chromosome 10. Originally noticed in a group of individuals from Marburg, Germany, the rs7080536(A) allele and corresponding variant protein is also known as the Marburg I (MI) variant. The HBAP2 gene may also be referred to as FSAP (Factor VII Activating Protein or Protease) in some texts. The rs7080536(A) allele is associated as a risk factor for several conditions, including: * Carotid stenosis ** A study of 800+ individuals found odds ratio of 6.6 [CI:1.6 - 27.7]. * Clinical stroke ** A study of 8,000 individuals concluded that the Marburg I polymorphism was associated with an increased risk of clinical stroke (HR 1.60, CI: 1.13-2.28) and all-cause mortality (HR 1.33, CI: 1.04-1.71). * Venous Thromboembolism (VTE) ** In a relatively small study (300 patients, 200 controls), the Marburg I variant was seen as an independent risk factor for VTE (OR 3.5, CI: 1.2-10.0) and also idiopathic VTE (OR 6.2, CI: 2.0-18.9). ** A larger study of ~900 patients determined that the Marburg I variant was associated with the development of deep venous thrombosis (OR 1.65, CI:1.16-2.34) and recurrent thromboembolic events (OR 2.13, CI; 1.35-3.36) OR (95% CI). * Familial Nonmedullary Thyroid cancer ** Carriers of a Marburg I variant have about a 2x higher risk for thyroid cancer based on a study of 400+ patients. Functional studies indicated that the HABP2 protein may normally have a tumor-suppressive effect, but the G534E variant results in a loss of that function.

A;A

see discussion at rs7080536

A;G

see discussion at rs7080536

Source and license

Adapted from rs7080536 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.