rs199476311
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199476311(A;A) |
| Make rs199476311(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 63059667 |
| Gene | TPM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199476311 |
| dbSNP (classic) | rs199476311 |
| ClinGen | rs199476311 |
| ebi | rs199476311 |
| HLI | rs199476311 |
| Exac | rs199476311 |
| Gnomad | rs199476311 |
| Varsome | rs199476311 |
| LitVar | rs199476311 |
| Map | rs199476311 |
| PheGenI | rs199476311 |
| Biobank | rs199476311 |
| 1000 genomes | rs199476311 |
| hgdp | rs199476311 |
| ensembl | rs199476311 |
| geneview | rs199476311 |
| scholar | rs199476311 |
| rs199476311 | |
| pharmgkb | rs199476311 |
| gwascentral | rs199476311 |
| openSNP | rs199476311 |
| 23andMe | rs199476311 |
| SNPshot | rs199476311 |
| SNPdbe | rs199476311 |
| MSV3d | rs199476311 |
| GWAS Ctlg | rs199476311 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199476311(A;A) |
| Alt | rs199476311(A;A) |
| Reference | Rs199476311(G;G) |
| 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.63351866G>A |
| CLNSRC | Leiden Muscular Dystrophy pages (TPM1) |
| CLNACC | RCV000024595.1, RCV000036336.2, |
[PMID 20530761] The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.
