rs2287939

A SNP in the C1QTNF3-AMACR gene on chromosome 5. Its most notable genotype is G;G.

Gene
C1QTNF3-AMACR
Location
Chr 533,998,778 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
24%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableNot ratedNo summary available.Typical · 0.057% of people
  2. A;AGoodcommon in clinvarTypical · 0.08% of people

SNPedia records rs2287939 on the minus strand: (C;C), (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 57% A;A 8%
  • European ancestry (Utah)G;G 55% A;A 9%
  • Han Chinese (Beijing)G;G 75% A;A 2%
  • Japanese (Tokyo)G;G 77% A;A 3%
  • Yoruba (Nigeria)G;G 71% A;A 3%
  • African ancestry (Southwest US)G;G 60% A;A 4%
  • Chinese (Denver)G;G 63% A;A 7%
  • Gujarati IndianG;G 31% A;A 25%
  • Luhya (Kenya)G;G 51% A;A 6%
  • Mexican ancestry (Los Angeles)G;G 55% A;A 9%
  • Maasai (Kenya)G;G 48% A;A 14%
  • TuscanG;G 45% A;A 6%

Notes

From SNPedia

Notes

Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women. Non-synonymous variants in the AMACR gene are associated with schizophrenia.

Source and license

Adapted from rs2287939 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.