rs80358308
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80358308(C;T) |
| Make rs80358308(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 68386630 |
| Gene | LRP5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358308 |
| dbSNP (classic) | rs80358308 |
| ClinGen | rs80358308 |
| ebi | rs80358308 |
| HLI | rs80358308 |
| Exac | rs80358308 |
| Gnomad | rs80358308 |
| Varsome | rs80358308 |
| LitVar | rs80358308 |
| Map | rs80358308 |
| PheGenI | rs80358308 |
| Biobank | rs80358308 |
| 1000 genomes | rs80358308 |
| hgdp | rs80358308 |
| ensembl | rs80358308 |
| geneview | rs80358308 |
| scholar | rs80358308 |
| rs80358308 | |
| pharmgkb | rs80358308 |
| gwascentral | rs80358308 |
| openSNP | rs80358308 |
| 23andMe | rs80358308 |
| SNPshot | rs80358308 |
| SNPdbe | rs80358308 |
| MSV3d | rs80358308 |
| GWAS Ctlg | rs80358308 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80358308(T;T) |
| Alt | rs80358308(T;T) |
| Reference | Rs80358308(C;C) |
| Significance | Pathogenic |
| Disease | Exudative vitreoretinopathy 4 |
| Variation | info |
| Gene | LRP5 |
| CLNDBN | Exudative vitreoretinopathy 4, digenic |
| Reversed | 0 |
| HGVS | NC_000011.9:g.68154098C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006673.3, |
[PMID 14507768
] Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.
[PMID 15981244] Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
