rs11466532
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs11466532(C;T) |
| Make rs11466532(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 30692953 |
| Gene | TGFBR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11466532 |
| dbSNP (classic) | rs11466532 |
| ClinGen | rs11466532 |
| ebi | rs11466532 |
| HLI | rs11466532 |
| Exac | rs11466532 |
| Gnomad | rs11466532 |
| Varsome | rs11466532 |
| LitVar | rs11466532 |
| Map | rs11466532 |
| PheGenI | rs11466532 |
| Biobank | rs11466532 |
| 1000 genomes | rs11466532 |
| hgdp | rs11466532 |
| ensembl | rs11466532 |
| geneview | rs11466532 |
| scholar | rs11466532 |
| rs11466532 | |
| pharmgkb | rs11466532 |
| gwascentral | rs11466532 |
| openSNP | rs11466532 |
| 23andMe | rs11466532 |
| SNPshot | rs11466532 |
| SNPdbe | rs11466532 |
| MSV3d | rs11466532 |
| GWAS Ctlg | rs11466532 |
| GMAF | 0.007346 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 22336710] Modeling SNP mediated differential targeting of homologous 3'UTR by microRNA
| ClinVar | |
|---|---|
| Risk | rs11466532(T;T) |
| Alt | rs11466532(T;T) |
| Reference | Rs11466532(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Marfan syndrome Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome |
| Variation | info |
| Gene | TGFBR2 |
| CLNDBN | Marfan syndrome Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.30734445C>T |
| CLNSRC | |
| CLNACC | RCV000289180.1, RCV000328103.1, RCV000384929.1, |
