Rs613872

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.