rs4986790

A SNP in the TLR4 gene on chromosome 9. Its most notable genotype is G;G: complex; numerous associations reported

Gene
TLR4
Location
Chr 9117,713,024 (GRCh38)
Highest magnitude
2.5Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
4%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodnormalTypical · 0.091% of people
  2. A;GNot ratedNo summary available.Typical · 0.09% of people
  3. G;GMost notableBadcomplex; numerous associations reportedWorth knowing · 2.5<1% 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 10 HapMap populations.

  • AverageA;A 91% A;G 9% G;G <1%
  • European ancestry (Utah)A;A 94% A;G 5% G;G <1%
  • 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 92% A;G 8% G;G 0%
  • African ancestry (Southwest US)A;A 91% A;G 7% G;G 2%
  • Gujarati IndianA;A 82% A;G 17% G;G 1%
  • Luhya (Kenya)A;A 81% A;G 19% G;G 0%
  • Mexican ancestry (Los Angeles)A;A 93% A;G 7% G;G 0%
  • Maasai (Kenya)A;A 85% A;G 14% G;G <1%
  • TuscanA;A 91% A;G 9% G;G 0%

Notes

From SNPedia

Show notes, about 400 words

rs4986790, a SNP also known as Asp299Gly (and also 896A/G) in the TLR4 gene, is often studied along with a cosegregating SNP known as Thr399Ile, rs4986791. (TLR4 encodes a receptor involved in the innate immune response.) Together, these SNPs have been reported to be associated with a wide variety of both infectious and non-infectious diseases, although there are conflicting or even contradictory results also reported in some cases. The risk allele for rs4986790 is (G). Reported associations include : * Diabetic neuropathy ** These SNPs may be protective * Heart disease ** Men with the risk alleles for both SNPs are at increased risk for myocardial infarction in this study of over 2000 individuals. ** rs4986790(G) carriers are not at increased risk for myocardial infartions, at least in this study of ~200 individuals. ** rs4986790(G) carriers are less likely to have heart attacks, in this study of ~400 individuals. ** Individuals with the risk alleles for both SNPs have a lower incidence of carotid stenosis * Premature birth ** Individuals with the risk alleles for both SNPs have a higher incidence for having their pregnancies associated with premature birth * Bacterial vaginosis ** Pregnant rs4986790(G) carriers are at increased risk for higher pH and a 10 fold higher level of certain bacteria * Bacterial infection ** Individuals with the risk alleles for both SNPs are more prone to gram-negative bacterial infections * Septic shock ** Individuals with the risk alleles for both SNPs are at higher risk for septic shock * Respiratory syncytial virus infection ** Individuals with the risk alleles for both SNPs are at higher risk for this type of viral infection. * Asthma ** Although not seen to influence the incidence of developing asthma, rs4986790(G) carriers who had asthma are reported to be more severely affected. * Allograft rejection ** Carriers of the risk alleles of either rs4986790 or rs4986791 have a lower rate of acute allograft rejection following lung transplantation. * Alzheimer's disease ** A study of 626 Northern Italian Alzheimer patients (427 women and 199 men; age range: 53-98 years; mean age: 74.88 +/- 8.44) found that rs4986790 was associated with increased risk for the disease. * cirrhosis rs4986790 and rs4986791 Results of three independent samples did not confirm previously reported association of rs4986790 with AMD, individually or combined.

Source and license

Adapted from rs4986790 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.