rs1044516

A SNP in the IRF6 gene on chromosome 1. Its most notable genotype is G;G: common in clinvar

Gene
IRF6
Location
Chr 1209,786,269 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
30%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableGoodcommon in clinvarTypical · 0.049% of people

SNPedia records rs1044516 on the minus strand: (C;C). 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 49%
  • European ancestry (Utah)G;G 71%
  • Han Chinese (Beijing)G;G 20%
  • Japanese (Tokyo)G;G 23%
  • Yoruba (Nigeria)G;G 52%
  • African ancestry (Southwest US)G;G 47%
  • Chinese (Denver)G;G 20%
  • Gujarati IndianG;G 53%
  • Luhya (Kenya)G;G 62%
  • Mexican ancestry (Los Angeles)G;G 62%
  • Maasai (Kenya)G;G 53%
  • TuscanG;G 76%

Other IRF6 SNPs

All IRF6 SNPs

Source and license

Adapted from rs1044516 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.