rs34396614
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs34396614(C;G) |
| Make rs34396614(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 31820503 |
| Gene | MYLK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34396614 |
| dbSNP (classic) | rs34396614 |
| ClinGen | rs34396614 |
| ebi | rs34396614 |
| HLI | rs34396614 |
| Exac | rs34396614 |
| Gnomad | rs34396614 |
| Varsome | rs34396614 |
| LitVar | rs34396614 |
| Map | rs34396614 |
| PheGenI | rs34396614 |
| Biobank | rs34396614 |
| 1000 genomes | rs34396614 |
| hgdp | rs34396614 |
| ensembl | rs34396614 |
| geneview | rs34396614 |
| scholar | rs34396614 |
| rs34396614 | |
| pharmgkb | rs34396614 |
| gwascentral | rs34396614 |
| openSNP | rs34396614 |
| 23andMe | rs34396614 |
| SNPshot | rs34396614 |
| SNPdbe | rs34396614 |
| MSV3d | rs34396614 |
| GWAS Ctlg | rs34396614 |
| GMAF | 0.01377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34396614(G;G) rs34396614(T;T) |
| Alt | rs34396614(G;G) rs34396614(T;T) |
| Reference | Rs34396614(C;C) |
| Significance | Non-pathogenic |
| Disease | Cardiomyopathy not specified Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | MYLK2 |
| CLNDBN | Cardiomyopathy not specified Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000020.10:g.30408306C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000030331.3, RCV000039788.3, RCV000205159.3, RCV000340253.1, |
[PMID 17344846
] Patterns of somatic mutation in human cancer genomes.
