rs1801020

A SNP in the F12 gene on chromosome 5. Its most notable genotype is A;G: 1.31x increased risk of heart disease

Gene
F12
Location
Chr 5177,409,531 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
42%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodNormal risk of developing heart diseaseMinor · 1.030% of people
  2. A;GMost notableBad1.31x increased risk of heart diseaseMinor · 1.544% of people
  3. A;ABad1.31x increased risk of heart diseaseMinor · 1.526% of people

SNPedia records rs1801020 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageG;G 30% A;G 44% A;A 26%
  • European ancestry (Utah)G;G 71% A;G 21% A;A 8%
  • Han Chinese (Beijing)G;G 8% A;G 46% A;A 46%
  • Japanese (Tokyo)G;G 7% A;G 47% A;A 46%
  • Yoruba (Nigeria)G;G 22% A;G 45% A;A 33%
  • African ancestry (Southwest US)G;G 42% A;G 40% A;A 18%
  • Chinese (Denver)G;G 6% A;G 42% A;A 52%
  • Gujarati IndianG;G 23% A;G 53% A;A 25%
  • Luhya (Kenya)G;G 32% A;G 56% A;A 12%
  • Mexican ancestry (Los Angeles)G;G 36% A;G 47% A;A 17%
  • Maasai (Kenya)G;G 22% A;G 48% A;A 30%
  • TuscanG;G 66% A;G 34% A;A 0%

Conditions, medicines and genes

Notes

From SNPedia

Notes

Affects heart disease risk for both men and women, based on a study of two Finnish population cohorts (HR = 1.31 (1.08-1.60) for CVD, uncorrected p = 0.006 multiplicative model). A meta-analysis of publications through July 2009, totaling 4,386 cases (vs 40,089 controls) concluded that apart from a very weak association with myocardial infarction for the rs1801020 (T;T) + (C;T) compared with (C;C) genotype, (odds ratio 1.13, CI: 1.00 - 1.27), the evidence for an association between F12 -4C>T and venous thromboembolism and myocardial infarction was weak.

Source and license

Adapted from rs1801020 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.