rs199476321
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs199476321(C;C) |
| Make rs199476321(C;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 63064133 |
| Gene | TPM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199476321 |
| dbSNP (classic) | rs199476321 |
| ClinGen | rs199476321 |
| ebi | rs199476321 |
| HLI | rs199476321 |
| Exac | rs199476321 |
| Gnomad | rs199476321 |
| Varsome | rs199476321 |
| LitVar | rs199476321 |
| Map | rs199476321 |
| PheGenI | rs199476321 |
| Biobank | rs199476321 |
| 1000 genomes | rs199476321 |
| hgdp | rs199476321 |
| ensembl | rs199476321 |
| geneview | rs199476321 |
| scholar | rs199476321 |
| rs199476321 | |
| pharmgkb | rs199476321 |
| gwascentral | rs199476321 |
| openSNP | rs199476321 |
| 23andMe | rs199476321 |
| SNPshot | rs199476321 |
| SNPdbe | rs199476321 |
| MSV3d | rs199476321 |
| GWAS Ctlg | rs199476321 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199476321(C;C) |
| Alt | rs199476321(C;C) |
| Reference | Rs199476321(T;T) |
| Significance | Pathogenic |
| Disease | not provided not specified Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | TPM1 |
| CLNDBN | not provided not specified Hypertrophic cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000015.9:g.63356332T>C |
| CLNSRC | Leiden Muscular Dystrophy pages (TPM1) |
| CLNACC | RCV000024581.2, RCV000154219.1, RCV000232738.1, |
