rs4704397

A SNP in the PDE8B gene on chromosome 5. Its most notable genotype is A;A: 0.26 muIU/ml higher TSH

Gene
PDE8B
Location
Chr 577,222,617 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
35%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableNot rated0.26 muIU/ml higher TSHTypical · 0.054% of people
  2. A;GNot rated0.13 muIU/ml higher TSHTypical · 0.035% of people
  3. C;CNot ratedNo summary available.Typical · 0.00% of people
  4. G;GNot ratednormalTypical · 0.011% of people

On SNPedia: (A;A), (A;G), (C;C), (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 54% A;G 35% C;C 0% G;G 11%
  • European ancestry (Utah)A;A 16% A;G 51% C;C 0% G;G 33%
  • Han Chinese (Beijing)A;A 72% A;G 27% C;C 0% G;G 2%
  • Japanese (Tokyo)A;A 75% A;G 21% C;C 0% G;G 4%
  • Yoruba (Nigeria)A;A 78% A;G 20% C;C 0% G;G 2%
  • African ancestry (Southwest US)A;A 60% A;G 40% C;C 0% G;G 0%
  • Chinese (Denver)A;A 72% A;G 28% C;C 0% G;G <1%
  • Gujarati IndianA;A 22% A;G 56% C;C 0% G;G 22%
  • Luhya (Kenya)A;A 82% A;G 17% C;C 0% G;G <1%
  • Mexican ancestry (Los Angeles)A;A 33% A;G 48% C;C 0% G;G 19%
  • Maasai (Kenya)A;A 72% A;G 28% C;C 0% G;G <1%
  • TuscanA;A 12% A;G 48% C;C 0% G;G 40%

Notes

From SNPedia

Show notes, about 120 words

A study of over 9,000+ individuals indicates that each copy of rs4704397(A) is associated with an increase of 0.13 muIU/ml in serum TSH (thyroid-stimulating hormone). A separate study of 970 pregnant women at 28 weeks of gestation found that serum TSH was highest for rs4704397(A;A) individuals (median, 2.16, 1.84, and 1.73 mIU/liter for AA, AG, and GG genotypes, respectively; p=0.0004), and more women with the (A;A) genotype had TSH concentrations above 4.21 mIU/liter, the upper limit of the reference range, compared with the (A;G) and (G;G) genotypes (9.6 vs. 3.5%, respectively; p=0.004). However, maternal PDE8B genotype was not associated with offspring birthweight or gestational age at delivery.

Source and license

Adapted from rs4704397 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.