rs613872

A SNP in the TCF4 gene on chromosome 18. Its most notable genotype is G;G: ~20-30x higher risk for Fuchs' dystrophy, a corneal disorder

Gene
TCF4
Location
Chr 1855,543,071 (GRCh38)
Highest magnitude
2.5Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
8%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GMost notableBad~20-30x higher risk for Fuchs' dystrophy, a corneal disorderWorth knowing · 2.52% of people
  2. G;TBad~5 fold higher risk for Fuchs' dystrophy, a corneal disorderWorth knowing · 2.511% of people
  3. T;TGoodcommon in complete genomicsTypical · 0.087% of people

On SNPedia: (G;G), (G;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 9 HapMap populations.

  • AverageG;G 2% G;T 11% T;T 87%
  • European ancestry (Utah)G;G 5% G;T 27% T;T 67%
  • Han Chinese (Beijing)G;G 0% G;T 2% T;T 99%
  • Japanese (Tokyo)G;G 0% G;T 0% T;T 100%
  • Yoruba (Nigeria)G;G 0% G;T 0% T;T 100%
  • African ancestry (Southwest US)G;G 0% G;T 12% T;T 88%
  • Gujarati IndianG;G 1% G;T 17% T;T 82%
  • Mexican ancestry (Los Angeles)G;G 3% G;T 12% T;T 85%
  • Maasai (Kenya)G;G 0% G;T 2% T;T 98%
  • TuscanG;G 5% G;T 30% T;T 65%

Conditions, medicines and genes

Other TCF4 SNPs

All TCF4 SNPs

Notes

From SNPedia

Show notes, about 180 words

rs613872 is an intronic SNP in the transcription factor 4 TCF4 gene on ch18q21.2. This GWAS study reported in 2010 the association between several independent TCF4 SNPs and Fuchs' dystrophy, including rs613872. They estimated the population attributable risk at about 60% for the rs613872 risk genotypes; in other words, barring other interactions, the relatively common minor allele rs613872(G) is associated with over half of all reported cases of Fuchs' dystrophy in the patient group studied. That does not mean it is causative, though; after all, ~30% of the CEU population carries this allele but the fraction developing Fuchs' dystrophy is less than 5%, so most rs613872(G) carriers are not diagnosed with the disorder. rs613872 was found to be associated with Fuchs' dystrophy based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs. rs17595731 is notable since variation here was observed in a SNPedia user with a family history of Fuchs' dystrophy. That location is not on any microarrays.

Source and license

Adapted from rs613872 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.