rs199476310
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs199476310(C;C) |
| Make rs199476310(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 63057019 |
| Gene | TPM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199476310 |
| dbSNP (classic) | rs199476310 |
| ClinGen | rs199476310 |
| ebi | rs199476310 |
| HLI | rs199476310 |
| Exac | rs199476310 |
| Gnomad | rs199476310 |
| Varsome | rs199476310 |
| LitVar | rs199476310 |
| Map | rs199476310 |
| PheGenI | rs199476310 |
| Biobank | rs199476310 |
| 1000 genomes | rs199476310 |
| hgdp | rs199476310 |
| ensembl | rs199476310 |
| geneview | rs199476310 |
| scholar | rs199476310 |
| rs199476310 | |
| pharmgkb | rs199476310 |
| gwascentral | rs199476310 |
| openSNP | rs199476310 |
| 23andMe | rs199476310 |
| SNPshot | rs199476310 |
| SNPdbe | rs199476310 |
| MSV3d | rs199476310 |
| GWAS Ctlg | rs199476310 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199476310(C;C) |
| Alt | rs199476310(C;C) |
| Reference | Rs199476310(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not provided Primary dilated cardiomyopathy |
| Variation | info |
| Gene | TPM1 |
| CLNDBN | not provided Primary dilated cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000015.9:g.63349218T>C |
| CLNSRC | Leiden Muscular Dystrophy pages (TPM1) |
| CLNACC | RCV000024587.1, RCV000036322.3, |
[PMID 20215591
] Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.
