rs3218713
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Familial Hypertrophic Cardiomyopathy |
| (A;G) | 6 | Familial Hypertrophic Cardiomyopathy |
| (G;G) | 0 | common in clinvar |
| (G;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 23431468 |
| Gene | MYH7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3218713 |
| dbSNP (classic) | rs3218713 |
| ClinGen | rs3218713 |
| ebi | rs3218713 |
| HLI | rs3218713 |
| Exac | rs3218713 |
| Gnomad | rs3218713 |
| Varsome | rs3218713 |
| LitVar | rs3218713 |
| Map | rs3218713 |
| PheGenI | rs3218713 |
| Biobank | rs3218713 |
| 1000 genomes | rs3218713 |
| hgdp | rs3218713 |
| ensembl | rs3218713 |
| geneview | rs3218713 |
| scholar | rs3218713 |
| rs3218713 | |
| pharmgkb | rs3218713 |
| gwascentral | rs3218713 |
| openSNP | rs3218713 |
| 23andMe | rs3218713 |
| SNPshot | rs3218713 |
| SNPdbe | rs3218713 |
| MSV3d | rs3218713 |
| GWAS Ctlg | rs3218713 |
| Max Magnitude | 6.2 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
see also OMIM 160760.0002
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs3218713(A;A) |
| Alt | Rs3218713(A;A) |
| Reference | Rs3218713(G;G) |
| Significance | Other |
| Disease | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | MYH7 |
| CLNDBN | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy |
| Reversed | 1 |
| HGVS | NC_000014.8:g.23900677C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015144.28, RCV000036000.3, RCV000158761.2, RCV000229956.1, |
