rs25640

A SNP in the HSD17B4 gene on chromosome 5. Its most notable genotype is C;G: Carrier of a mutation for D-bifunctional protein deficiency

Gene
HSD17B4
Location
Chr 5119,475,838 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
40%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodbenign polymorphismMinor · 1.016% of people
  2. A;GGoodbenign polymorphismMinor · 1.039% of people
  3. C;GMost notableBadCarrier of a mutation for D-bifunctional protein deficiencyImportant · 3.00% of people
  4. G;GGoodcommon in clinvarTypical · 0.045% of people

On SNPedia: (A;A), (A;G), (C;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 11 HapMap populations.

  • AverageA;A 16% A;G 39% C;G 0% G;G 45%
  • European ancestry (Utah)A;A 22% A;G 50% C;G 0% G;G 27%
  • Han Chinese (Beijing)A;A 26% A;G 53% C;G 0% G;G 21%
  • Japanese (Tokyo)A;A 15% A;G 61% C;G 0% G;G 24%
  • Yoruba (Nigeria)A;A <1% A;G 14% C;G 0% G;G 85%
  • African ancestry (Southwest US)A;A 5% A;G 38% C;G 0% G;G 57%
  • Chinese (Denver)A;A 33% A;G 47% C;G 0% G;G 19%
  • Gujarati IndianA;A 20% A;G 45% C;G 0% G;G 36%
  • Luhya (Kenya)A;A 2% A;G 20% C;G 0% G;G 78%
  • Mexican ancestry (Los Angeles)A;A 28% A;G 53% C;G 0% G;G 19%
  • Maasai (Kenya)A;A 0% A;G 11% C;G 0% G;G 89%
  • TuscanA;A 24% A;G 42% C;G 0% G;G 35%

Other HSD17B4 SNPs

All HSD17B4 SNPs

Notes

From SNPedia

Notes

aka c.317G>C (p.Arg106Pro), but also c.317G>A (p.Arg106His) c.316G>C is a mutation pathogenic (when inherited recessively) for D-bifunctional protein deficiency; c.316G>A is a benign polymorphism

C;G

Unaffected in absence of a second HSD17B4 gene mutation; see links via main rs-page

Source and license

Adapted from rs25640 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.