rs17028450
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs17028450(C;T) |
| Make rs17028450(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 98534325 |
| Gene | TMPO |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17028450 |
| dbSNP (classic) | rs17028450 |
| ClinGen | rs17028450 |
| ebi | rs17028450 |
| HLI | rs17028450 |
| Exac | rs17028450 |
| Gnomad | rs17028450 |
| Varsome | rs17028450 |
| LitVar | rs17028450 |
| Map | rs17028450 |
| PheGenI | rs17028450 |
| Biobank | rs17028450 |
| 1000 genomes | rs17028450 |
| hgdp | rs17028450 |
| ensembl | rs17028450 |
| geneview | rs17028450 |
| scholar | rs17028450 |
| rs17028450 | |
| pharmgkb | rs17028450 |
| gwascentral | rs17028450 |
| openSNP | rs17028450 |
| 23andMe | rs17028450 |
| SNPshot | rs17028450 |
| SNPdbe | rs17028450 |
| MSV3d | rs17028450 |
| GWAS Ctlg | rs17028450 |
| GMAF | 0.01331 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs17028450(T;T) |
| Alt | rs17028450(T;T) |
| Reference | Rs17028450(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Dilated cardiomyopathy 1T not specified Dilated cardiomyopathy Loeys-Dietz syndrome 2 Cardiovascular phenotype Dilated Cardiomyopathy |
| Variation | info |
| Gene | TMPO |
| CLNDBN | Dilated cardiomyopathy 1T not specified Dilated cardiomyopathy Loeys-Dietz syndrome 2 Cardiovascular phenotype Dilated Cardiomyopathy, Dominant |
| Reversed | 0 |
| HGVS | NC_000012.11:g.98928103C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013544.25, RCV000037751.4, RCV000172599.1, RCV000231421.2, RCV000254155.1, RCV000403830.1, |
