Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE Only one of the 54 patients with FECD harboured rs613872 (1.9%). 31554942

2019

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE Our large German cohort demonstrated a significant association between the risk allele G in rs613872 and FECD, irrespective of TNR expansion, although this risk allele was more frequent in FECD cases with TNR expansion than without. 30973406

2019

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE We confirmed that rs613872 in the TCF4 gene is strongly and statistically associated with late-onset FECD in a Greek population. 31028223

2019

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE Sixty-one unrelated German patients with FECD and 113 unaffected controls were investigated and genotyped for the CTG18.1 locus by triplet primed PCR (TP-PCR) and the rs613872 polymorphism via Sanger sequencing and by employing genomic DNA from peripheral blood leucocytes. 28608272

2017

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE This is the first report of genetic variations in ZEB1 and TCF4 SNP rs613872 in patients with FECD from northern India that suggests a possible role in disease pathogenesis and the regulation of endothelial cell density. 26622166

2015

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE Here, we confirm a strong positive association between TCF4 single nucleotide polymorphism rs613872 and FECD in Polish patients (OR = 12.95, 95% CI: 8.63-19.42, χ (2) = 189.5, p < 0.0001). 26451375

2015

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE The single nucleotide variant (SNV), rs613872, in the transcription factor 4 (TCF4) gene was previously found to be strongly associated (P = 6 × 10(-26)) with Fuchs' endothelial corneal dystrophy (FECD). 25168903

2014

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE The odds ratio (OR) of each copy of the rs613872</span> G allele for FECD was estimated to be 9.5 (95% confidence interval [CI], 5.1-17.5). 24255041

2014

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE Haplogroup I was significantly associated with FECD (OR = 0.46; 95% CI = [0.22, 0.97]; P = 0.041) and remains significant after adjusting for the effect of smoking (min P = 0.008) or rs613872 (P = 0.034). 24917144

2014

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE Prior reports have shown that SNP rs613872 in the TCF4 gene is highly associated with FECD. 22998502

2013

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE To identify early features of Fuchs endothelial dystrophy (FED) in carriers of the rs613872(G) transcription factor 4 gene (TCF4) aged 20 to 21 years. 22146553

2012

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE The sensitivity and specificity of >50 TGC repeats identifying FECD in this patient cohort was 79% and 96%, respectively Expanded TGC repeat was more specific for FECD cases than the previously identified, highly associated, single nucleotide polymorphism, rs613872 (specificity = 79%). 23185296

2012

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE Association of FECD grade with TCF4 was highly significant (OR= 6.01 at rs613872; p = 4.8×10(-25)), and remained significant when adjusted for changes in CCT (OR= 4.84; p = 2.2×10(-16)). 23110055

2012

dbSNP: rs613872
rs613872
0.800 GeneticVariation BEFREE In summary, our study presents evidence to support the role of the intronic TCF4 single nucleotide polymorphism rs613872 in late-onset FECD through both association and linkage studies. 21533127

2011

dbSNP: rs613872
rs613872
G 0.800 GeneticVariation GWASCAT E2-2 protein and Fuchs's corneal dystrophy. 20825314

2010

dbSNP: rs1200114
rs1200114
0.700 GeneticVariation GWASCAT Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 28358029

2017

dbSNP: rs12223324
rs12223324
0.700 GeneticVariation GWASCAT Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 28358029

2017

dbSNP: rs2274700
rs2274700
CFH
0.700 GeneticVariation GWASCAT Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 28358029

2017

dbSNP: rs3768617
rs3768617
0.700 GeneticVariation GWASCAT Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 28358029

2017

dbSNP: rs784257
rs784257
0.700 GeneticVariation GWASCAT Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 28358029

2017

dbSNP: rs79742895
rs79742895
0.700 GeneticVariation GWASCAT Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 28358029

2017

dbSNP: rs10490775
rs10490775
A 0.700 GeneticVariation GWASCAT E2-2 protein and Fuchs's corneal dystrophy. 20825314

2010

dbSNP: rs1348047
rs1348047
0.020 GeneticVariation BEFREE SNPs were detected for TCF4 (rs613872, rs2123392, rs17089887, rs1452787, and rs1348047), but only rs613872 showed a significant association with FECD (P = 9.93 × 10). 30973406

2019

dbSNP: rs1348047
rs1348047
0.020 GeneticVariation BEFREE Five SNPs (rs613872, rs2123392, rs17089887, rs1452787, and rs1348047), previously reported to be associated with FECD, were genotyped by direct sequencing. 31554942

2019

dbSNP: rs80358191
rs80358191
0.020 GeneticVariation BEFREE The present study used a transgenic Col8a2(Q455K/Q455K) knock-in mouse model of early-onset FECD to identify the endothelial expression profile of specific cellular stress response-related targets, which may be relevant to late-onset FECD. 22956607

2012