rs12095080

A SNP in the DIO1 gene on chromosome 1. Its most notable genotype is A;G: may have normal to good thyroid hormone metabolism

Gene
DIO1
Location
Chr 153,911,057 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
9%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ANot ratedno association with increased thyroid hormone metabolismTypical · 0.080% of people
  2. A;GMost notableNot ratedmay have normal to good thyroid hormone metabolismMinor · 1.019% of people
  3. G;GGoodlikely good thyroid hormone metabolismMinor · 1.01% of people

On SNPedia: (A;A), (A;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 10 HapMap populations.

  • AverageA;A 80% A;G 19% G;G 1%
  • European ancestry (Utah)A;A 82% A;G 16% G;G 2%
  • Han Chinese (Beijing)A;A 100% A;G 0% G;G 0%
  • Japanese (Tokyo)A;A 100% A;G 0% G;G 0%
  • Yoruba (Nigeria)A;A 61% A;G 35% G;G 5%
  • African ancestry (Southwest US)A;A 57% A;G 41% G;G 2%
  • Gujarati IndianA;A 86% A;G 13% G;G 1%
  • Luhya (Kenya)A;A 67% A;G 30% G;G 3%
  • Mexican ancestry (Los Angeles)A;A 88% A;G 12% G;G 0%
  • Maasai (Kenya)A;A 77% A;G 22% G;G <1%
  • TuscanA;A 78% A;G 22% G;G 1%

Other DIO1 SNPs

All DIO1 SNPs

Notes

From SNPedia

Show notes, about 130 words

This 2003 study found that the DIO1 gene's D1b-A/G polymorphism (rs12095080) allele G correlated with lower rT3/T4 and higher T3/rT3 ratios, suggesting increased D1 (Deiodinase type 1) expression and/or activity of this variant. Researchers explained that liver D1 plays a key role not only in the production of plasma T3 from T4 but also in the breakdown of the metabolite rT3 (reverse T3). . This 2008 review identified the SNPs of D1a-C/T (rs11206244), and D1b-A/G (rs12095080) and cited the results of the 2003 study on these polymorphisms. . This study analyzed DIO1-rs12095080 but found more significant effect with SNP DIO2-rs12885300. However, their data depended on TSH and T4 levels alone, since T3 and rT3 were measured at only one time point during the study.

Source and license

Adapted from rs12095080 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.