rs17595731
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.5 | ~20-30x higher risk for Fuchs' dystrophy, a corneal disorder |
| (C;G) | 2.5 | ~5 fold higher risk for Fuchs' dystrophy, a corneal disorder |
| (G;G) | 0 | common |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 55440221 |
| Gene | TCF4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17595731 |
| dbSNP (classic) | rs17595731 |
| ClinGen | rs17595731 |
| ebi | rs17595731 |
| HLI | rs17595731 |
| Exac | rs17595731 |
| Gnomad | rs17595731 |
| Varsome | rs17595731 |
| LitVar | rs17595731 |
| Map | rs17595731 |
| PheGenI | rs17595731 |
| Biobank | rs17595731 |
| 1000 genomes | rs17595731 |
| hgdp | rs17595731 |
| ensembl | rs17595731 |
| geneview | rs17595731 |
| scholar | rs17595731 |
| rs17595731 | |
| pharmgkb | rs17595731 |
| gwascentral | rs17595731 |
| openSNP | rs17595731 |
| 23andMe | rs17595731 |
| SNPshot | rs17595731 |
| SNPdbe | rs17595731 |
| MSV3d | rs17595731 |
| GWAS Ctlg | rs17595731 |
| GMAF | 0.04545 |
| Max Magnitude | 2.5 |
rs17595731 is a SNP in the transcription factor 4 TCF4 gene. It is one of several TCF4 SNPs reported to be independently associated with Fuchs' dystrophy.
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22234156
] Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process
