rs12101255

A SNP in the TSHR gene on chromosome 14. Its most notable genotype is C;T: >1.4 risk for Graves' disease

Gene
TSHR
Location
Chr 1480,984,708 (GRCh38)
Highest magnitude
1.4Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
44%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CNot ratedno increased risk of Graves' diseaseMinor · 1.030% of people
  2. C;TMost notableBad>1.4 risk for Graves' diseaseMinor · 1.450% of people
  3. T;TBad>1.4 risk for Graves' diseaseMinor · 1.421% of people

On SNPedia: (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 11 HapMap populations.

  • AverageC;C 30% C;T 50% T;T 21%
  • European ancestry (Utah)C;C 41% C;T 50% T;T 9%
  • Han Chinese (Beijing)C;C 13% C;T 46% T;T 41%
  • Japanese (Tokyo)C;C 15% C;T 56% T;T 29%
  • Yoruba (Nigeria)C;C 36% C;T 46% T;T 18%
  • African ancestry (Southwest US)C;C 37% C;T 51% T;T 12%
  • Chinese (Denver)C;C 5% C;T 55% T;T 40%
  • Gujarati IndianC;C 53% C;T 38% T;T 10%
  • Luhya (Kenya)C;C 17% C;T 59% T;T 24%
  • Mexican ancestry (Los Angeles)C;C 24% C;T 53% T;T 22%
  • Maasai (Kenya)C;C 41% C;T 47% T;T 12%
  • TuscanC;C 44% C;T 46% T;T 10%

Conditions, medicines and genes

Other TSHR SNPs

All TSHR SNPs

Notes

From SNPedia

Show notes, about 180 words

A meta-analysis including eight studies (totaling 6,976 cases and 7,089 controls) reported an association between rs12101255(T) with Graves' disease (odds ratio 1.5, CI: 1.410-1.600, p<0.001), and the associations were the same under dominant, recessive and co-dominant models. . In this 2010 study, both rs179247 allele A (P = 1.2×10(-2)-6.2×10(-15), OR = 1.38-1.45) and rs12101255 allele T (P = 1.0×10(-4)-3.68×10(-21), OR = 1.47-1.87) exhibited strong association with GD in all three cohorts. . Published 2009. "28 SNPs revealed association with GD (P < 0.05), with strongest SNP associations at rs179247 A allele (P = 8.90 x 10(-8), OR = 1.53, 95% CI = 1.32-1.78), rs3783948 G allele (P = 6.5 × 10 −5 , OR = 1.52, 95% CI = 1.30–1.78), and rs12101255 T allele (P = 1.95 x 10(-7), OR = 1.55, 95% CI = 1.33-1.81). They also provided "preliminary evidence that the disease-associated genotypes of rs179247 (AA) and rs12101255 (TT) show reduced mRNA expression ratios of flTSHR relative to two alternate TSHR mRNA splice variants" (Abstract).

C;T

see text at rs12101255

T;T

see text at rs12101255

Source and license

Adapted from rs12101255 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.