rs397516484
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs397516484(A;A) |
| Make rs397516484(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 201359244 |
| Gene | TNNT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397516484 |
| dbSNP (classic) | rs397516484 |
| ClinGen | rs397516484 |
| ebi | rs397516484 |
| HLI | rs397516484 |
| Exac | rs397516484 |
| Gnomad | rs397516484 |
| Varsome | rs397516484 |
| LitVar | rs397516484 |
| Map | rs397516484 |
| PheGenI | rs397516484 |
| Biobank | rs397516484 |
| 1000 genomes | rs397516484 |
| hgdp | rs397516484 |
| ensembl | rs397516484 |
| geneview | rs397516484 |
| scholar | rs397516484 |
| rs397516484 | |
| pharmgkb | rs397516484 |
| gwascentral | rs397516484 |
| openSNP | rs397516484 |
| 23andMe | rs397516484 |
| SNPshot | rs397516484 |
| SNPdbe | rs397516484 |
| MSV3d | rs397516484 |
| GWAS Ctlg | rs397516484 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397516484(A;A) rs397516484(C;C) |
| Alt | rs397516484(A;A) rs397516484(C;C) |
| Reference | Rs397516484(G;G) |
| Significance | Pathogenic |
| Disease | not specified not provided Familial hypertrophic cardiomyopathy 1 |
| Variation | info |
| Gene | TNNT2 |
| CLNDBN | not specified not provided Familial hypertrophic cardiomyopathy 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.201328372C>G; NC_000001.10:g.201328372C>T |
| CLNSRC | |
| CLNACC | RCV000154217.2, RCV000225728.1, RCV000036623.2, RCV000201870.1, |
