rs4947296

A SNP on chromosome 6. Its most notable genotype is C;C: Increased (2.5x) risk for Graves' disease

Gene
None listed
Location
Chr 631,090,401 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
10%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableBadIncreased (2.5x) risk for Graves' diseaseWorth knowing · 2.02% of people
  2. C;TBadSlightly (1.7x) increased risk for Graves' diseaseMinor · 1.717% of people
  3. T;TGoodcommon on affy axiom dataTypical · 0.081% 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 10 HapMap populations.

  • AverageC;C 2% C;T 17% T;T 81%
  • European ancestry (Utah)C;C 0% C;T 12% T;T 88%
  • Han Chinese (Beijing)C;C 4% C;T 31% T;T 65%
  • Japanese (Tokyo)C;C 4% C;T 27% T;T 69%
  • Yoruba (Nigeria)C;C 0% C;T <1% T;T 99%
  • African ancestry (Southwest US)C;C 0% C;T 4% T;T 97%
  • Chinese (Denver)C;C 5% C;T 27% T;T 68%
  • Gujarati IndianC;C 1% C;T 27% T;T 72%
  • Mexican ancestry (Los Angeles)C;C 2% C;T 9% T;T 90%
  • Maasai (Kenya)C;C <1% C;T 14% T;T 85%
  • TuscanC;C 1% C;T 18% T;T 81%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs4947296 is considered to be a SNP in the MUC21 gene, located upstream of the HLA locus on chromosome 6. A 2011 study of ~5,000 patients with Graves' disease found an association with rs4947296(C); the odds ratio was 1.77 (CI: 1.65-1.91, p = 3.5 x 10e-51).

C;C

see rs4947296

C;T

see rs4947296

Source and license

Adapted from rs4947296 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.