rs11567847
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs11567847(C;C) |
| Make rs11567847(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 12937202 |
| Gene | TEAD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11567847 |
| dbSNP (classic) | rs11567847 |
| ClinGen | rs11567847 |
| ebi | rs11567847 |
| HLI | rs11567847 |
| Exac | rs11567847 |
| Gnomad | rs11567847 |
| Varsome | rs11567847 |
| LitVar | rs11567847 |
| Map | rs11567847 |
| PheGenI | rs11567847 |
| Biobank | rs11567847 |
| 1000 genomes | rs11567847 |
| hgdp | rs11567847 |
| ensembl | rs11567847 |
| geneview | rs11567847 |
| scholar | rs11567847 |
| rs11567847 | |
| pharmgkb | rs11567847 |
| gwascentral | rs11567847 |
| openSNP | rs11567847 |
| 23andMe | rs11567847 |
| SNPshot | rs11567847 |
| SNPdbe | rs11567847 |
| MSV3d | rs11567847 |
| GWAS Ctlg | rs11567847 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs11567847(C;C) |
| Alt | rs11567847(C;C) |
| Reference | Rs11567847(T;T) |
| Significance | Pathogenic |
| Disease | Sveinsson choreoretinal atrophy |
| Variation | info |
| Gene | TEAD1 |
| CLNDBN | Sveinsson choreoretinal atrophy |
| Reversed | 0 |
| HGVS | NC_000011.9:g.12958749T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013465.23, |
