rs613872
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 2.5 | ~20-30x higher risk for Fuchs' dystrophy, a corneal disorder |
| (G;T) | 2.5 | ~5 fold higher risk for Fuchs' dystrophy, a corneal disorder |
| (T;T) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 55543071 |
| Gene | TCF4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs613872 |
| dbSNP (classic) | rs613872 |
| ClinGen | rs613872 |
| ebi | rs613872 |
| HLI | rs613872 |
| Exac | rs613872 |
| Gnomad | rs613872 |
| Varsome | rs613872 |
| LitVar | rs613872 |
| Map | rs613872 |
| PheGenI | rs613872 |
| Biobank | rs613872 |
| 1000 genomes | rs613872 |
| hgdp | rs613872 |
| ensembl | rs613872 |
| geneview | rs613872 |
| scholar | rs613872 |
| rs613872 | |
| pharmgkb | rs613872 |
| gwascentral | rs613872 |
| openSNP | rs613872 |
| 23andMe | rs613872 |
| SNPshot | rs613872 |
| SNPdbe | rs613872 |
| MSV3d | rs613872 |
| GWAS Ctlg | rs613872 |
| GMAF | 0.0831 |
| Max Magnitude | 2.5 |
rs613872 is an intronic SNP in the transcription factor 4 TCF4 gene on ch18q21.2.
[PMID 20825314] 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.
[PMID 24270849
] 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.
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 20825314] |
| Trait | |
| Title | E2-2 protein and Fuchs's corneal dystrophy |
| Risk Allele | G |
| P-val | 1E-18 |
| Odds Ratio | 5.47 [3.75-7.99] |
[PMID 21245398] Replication of the TCF4 Intronic Variant in Late-Onset Fuchs Corneal Dystrophy and Evidence of Independence from the FCD2 locus
[PMID 21659310] Association of TCF4 Gene Polymorphisms with Fuchs Corneal Dystrophy in the Chinese
[PMID 22146553] Role of the TCF4 Gene Intronic Variant in Normal Variation of Corneal Endothelium
[PMID 22234156] Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.
[PMID 22321803] Prevalence and severity of fuchs corneal dystrophy in Tangier Island.
[PMID 24255041] Association and Familial Segregation of CTG18.1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy
[PMID 22998502] Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States.
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.
[PMID 24917144] Mitochondrial Polymorphism A10398G and Haplogroup I are associated with Fuchs Endothelial Corneal Dystrophy
[PMID 26451375] Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level
[PMID 28832669] TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases.
[PMID 30973406] Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy.
