rs3804505

A SNP in the EFHC1 gene on chromosome 6. Its most notable genotype is A;A: rare, related to myoclonic epilepsy

Gene
EFHC1
Location
Chr 652,438,563 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
4%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon on affy axiom dataTypical · 0.092% of people
  2. A;GNot rated?Typical · 0.08% of people
  3. A;AMost notableNot ratedrare, related to myoclonic epilepsyWorth knowing · 2.00% of people

SNPedia records rs3804505 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 10 HapMap populations.

  • AverageG;G 92% A;G 8% A;A 0%
  • European ancestry (Utah)G;G 94% A;G 6% A;A 0%
  • Han Chinese (Beijing)G;G 87% A;G 13% A;A 0%
  • Japanese (Tokyo)G;G 90% A;G 10% A;A 0%
  • Yoruba (Nigeria)G;G 99% A;G <1% A;A 0%
  • African ancestry (Southwest US)G;G 95% A;G 5% A;A 0%
  • Chinese (Denver)G;G 81% A;G 19% A;A 0%
  • Gujarati IndianG;G 85% A;G 15% A;A 0%
  • Mexican ancestry (Los Angeles)G;G 90% A;G 11% A;A 0%
  • Maasai (Kenya)G;G 99% A;G <1% A;A 0%
  • TuscanG;G 96% A;G 4% A;A 0%

Source and license

Adapted from rs3804505 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.