rs199476306
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199476306(C;T) |
| Make rs199476306(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 15 |
| Position | 63044100 |
| Gene | TPM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199476306 |
| dbSNP (classic) | rs199476306 |
| ClinGen | rs199476306 |
| ebi | rs199476306 |
| HLI | rs199476306 |
| Exac | rs199476306 |
| Gnomad | rs199476306 |
| Varsome | rs199476306 |
| LitVar | rs199476306 |
| Map | rs199476306 |
| PheGenI | rs199476306 |
| Biobank | rs199476306 |
| 1000 genomes | rs199476306 |
| hgdp | rs199476306 |
| ensembl | rs199476306 |
| geneview | rs199476306 |
| scholar | rs199476306 |
| rs199476306 | |
| pharmgkb | rs199476306 |
| gwascentral | rs199476306 |
| openSNP | rs199476306 |
| 23andMe | rs199476306 |
| SNPshot | rs199476306 |
| SNPdbe | rs199476306 |
| MSV3d | rs199476306 |
| GWAS Ctlg | rs199476306 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199476306(T;T) |
| Alt | rs199476306(T;T) |
| Reference | Rs199476306(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | TPM1 |
| CLNDBN | not provided Hypertrophic cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000015.9:g.63336299C>T |
| CLNSRC | Leiden Muscular Dystrophy pages (TPM1) UniProtKB (protein) |
| CLNACC | RCV000024573.1, RCV000229431.2, |
