rs121913637
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Make rs121913637(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 23425971 |
| Gene | MYH7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913637 |
| dbSNP (classic) | rs121913637 |
| ClinGen | rs121913637 |
| ebi | rs121913637 |
| HLI | rs121913637 |
| Exac | rs121913637 |
| Gnomad | rs121913637 |
| Varsome | rs121913637 |
| LitVar | rs121913637 |
| Map | rs121913637 |
| PheGenI | rs121913637 |
| Biobank | rs121913637 |
| 1000 genomes | rs121913637 |
| hgdp | rs121913637 |
| ensembl | rs121913637 |
| geneview | rs121913637 |
| scholar | rs121913637 |
| rs121913637 | |
| pharmgkb | rs121913637 |
| gwascentral | rs121913637 |
| openSNP | rs121913637 |
| 23andMe | rs121913637 |
| SNPshot | rs121913637 |
| SNPdbe | rs121913637 |
| MSV3d | rs121913637 |
| GWAS Ctlg | rs121913637 |
| 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
].
| ClinVar | |
|---|---|
| Risk | rs121913637(T;T) |
| Alt | rs121913637(T;T) |
| Reference | Rs121913637(C;C) |
| Significance | Pathogenic |
| Disease | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype |
| Variation | info |
| Gene | MYH7 |
| CLNDBN | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000014.8:g.23895180G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015160.27, RCV000035768.3, RCV000158512.3, RCV000241836.1, |
