rs143978652
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs143978652(A;A) |
| Make rs143978652(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 23393437 |
| Gene | MYH6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143978652 |
| dbSNP (classic) | rs143978652 |
| ClinGen | rs143978652 |
| ebi | rs143978652 |
| HLI | rs143978652 |
| Exac | rs143978652 |
| Gnomad | rs143978652 |
| Varsome | rs143978652 |
| LitVar | rs143978652 |
| Map | rs143978652 |
| PheGenI | rs143978652 |
| Biobank | rs143978652 |
| 1000 genomes | rs143978652 |
| hgdp | rs143978652 |
| ensembl | rs143978652 |
| geneview | rs143978652 |
| scholar | rs143978652 |
| rs143978652 | |
| pharmgkb | rs143978652 |
| gwascentral | rs143978652 |
| openSNP | rs143978652 |
| 23andMe | rs143978652 |
| SNPshot | rs143978652 |
| SNPdbe | rs143978652 |
| MSV3d | rs143978652 |
| GWAS Ctlg | rs143978652 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs143978652(A;A) |
| Alt | rs143978652(A;A) |
| Reference | Rs143978652(C;C) |
| Significance | Other |
| Disease | Dilated cardiomyopathy 1EE not specified Dilated cardiomyopathy Familial hypertrophic cardiomyopathy 14 Sudden cardiac death Cardiovascular phenotype |
| Variation | info |
| Gene | MYH6 |
| CLNDBN | Dilated cardiomyopathy 1EE not specified Dilated cardiomyopathy Familial hypertrophic cardiomyopathy 14 Sudden cardiac death Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000014.8:g.23862646C>A |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015214.25, RCV000037468.6, RCV000172563.1, RCV000190123.1, RCV000201499.1, RCV000244450.1, |
