rs3732378

A SNP in the CX3CR1 gene on chromosome 3. Its most notable genotype is A;A: more rapid progression to full-blown AIDS and probably increased susceptibility to HIV infection

Gene
CX3CR1
Location
Chr 339,265,671 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
10%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadmore rapid progression to full-blown AIDS and probably increased susceptibility to HIV infectionWorth knowing · 2.0<1% of people
  2. A;GGoodpossible reduced risk of acute coronary eventsMinor · 1.012% of people
  3. G;GGoodcommon on affy axiom dataTypical · 0.087% 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 <1% A;G 12% G;G 87%
  • European ancestry (Utah)A;A 3% A;G 29% G;G 68%
  • Han Chinese (Beijing)A;A 0% A;G 2% G;G 98%
  • Japanese (Tokyo)A;A 0% A;G 9% G;G 91%
  • Yoruba (Nigeria)A;A 0% A;G 0% G;G 100%
  • African ancestry (Southwest US)A;A 0% A;G 7% G;G 93%
  • Chinese (Denver)A;A 0% A;G 3% G;G 97%
  • Gujarati IndianA;A 2% A;G 21% G;G 77%
  • Mexican ancestry (Los Angeles)A;A 2% A;G 28% G;G 71%
  • Maasai (Kenya)A;A 0% A;G <1% G;G 99%
  • TuscanA;A 3% A;G 25% G;G 73%

Conditions, medicines and genes

Other CX3CR1 SNPs

All CX3CR1 SNPs

Notes

From SNPedia

Show notes, about 160 words

rs3732378, also known as c.935C>T, p.Thr280M or T280M, represents a variant in the CX3CR1 gene on chromosome 3. This variant is typically co-inherited as a haplotype with neighbouring SNP, rs3732379 (Val249Ile). The protein receptor with both variant amino acids is known as CX3CR1-M280. The minor alleles of this pair are associated with: *more rapid progression to full-blown AIDS and probably increased susceptibility to HIV infection *reduced risk of acute coronary events *increased risk of age related macular degeneration *reduced anti-fungal immune response in Crohn's disease patients, at least for minor allele homozygotes

A;A

*more rapid progression to full-blown AIDS and probably increased susceptibility to HIV infection *increased risk of age related macular degeneration *reduced anti-fungal immune response in Crohn's disease patients

A;G

reduced risk of acute coronary events PMID 11264153, but this is the only study which found an association

References

Source and license

Adapted from rs3732378 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.