rs367785431
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs367785431(A;A) |
| Make rs367785431(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 201359221 |
| Gene | TNNT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs367785431 |
| dbSNP (classic) | rs367785431 |
| ClinGen | rs367785431 |
| ebi | rs367785431 |
| HLI | rs367785431 |
| Exac | rs367785431 |
| Gnomad | rs367785431 |
| Varsome | rs367785431 |
| LitVar | rs367785431 |
| Map | rs367785431 |
| PheGenI | rs367785431 |
| Biobank | rs367785431 |
| 1000 genomes | rs367785431 |
| hgdp | rs367785431 |
| ensembl | rs367785431 |
| geneview | rs367785431 |
| scholar | rs367785431 |
| rs367785431 | |
| pharmgkb | rs367785431 |
| gwascentral | rs367785431 |
| openSNP | rs367785431 |
| 23andMe | rs367785431 |
| SNPshot | rs367785431 |
| SNPdbe | rs367785431 |
| MSV3d | rs367785431 |
| GWAS Ctlg | rs367785431 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs367785431(A;A) |
| Alt | rs367785431(A;A) |
| Reference | Rs367785431(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Familial hypertrophic cardiomyopathy 2 |
| Variation | info |
| Gene | TNNT2 |
| CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Familial hypertrophic cardiomyopathy 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.201328349G>A |
| CLNSRC | Children's Hospital of Eastern Ontario |
| CLNACC | RCV000036625.2, RCV000168978.2, RCV000201898.1, RCV000466963.1, |
