rs2286812
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common |
| (C;T) | 1.5 | ~2x higher risk for Fuchs' dystrophy, a corneal disorder |
| (T;T) | 2 | ~4x higher risk for Fuchs' dystrophy, a corneal disorder |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 56050233 |
| Gene | RPL12P10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2286812 |
| dbSNP (classic) | rs2286812 |
| ClinGen | rs2286812 |
| ebi | rs2286812 |
| HLI | rs2286812 |
| Exac | rs2286812 |
| Gnomad | rs2286812 |
| Varsome | rs2286812 |
| LitVar | rs2286812 |
| Map | rs2286812 |
| PheGenI | rs2286812 |
| Biobank | rs2286812 |
| 1000 genomes | rs2286812 |
| hgdp | rs2286812 |
| ensembl | rs2286812 |
| geneview | rs2286812 |
| scholar | rs2286812 |
| rs2286812 | |
| pharmgkb | rs2286812 |
| gwascentral | rs2286812 |
| openSNP | rs2286812 |
| 23andMe | rs2286812 |
| SNPshot | rs2286812 |
| SNPdbe | rs2286812 |
| MSV3d | rs2286812 |
| GWAS Ctlg | rs2286812 |
| GMAF | 0.1088 |
| Max Magnitude | 2 |
rs2286812 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;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 22234156
] Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process
