rs199474809
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Familial hypertrophic cardiomyopathy (possible) |
| (G;G) | 0 | common in clinvar |
| Make rs199474809(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 110914290 |
| Gene | MYL2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199474809 |
| dbSNP (classic) | rs199474809 |
| ClinGen | rs199474809 |
| ebi | rs199474809 |
| HLI | rs199474809 |
| Exac | rs199474809 |
| Gnomad | rs199474809 |
| Varsome | rs199474809 |
| LitVar | rs199474809 |
| Map | rs199474809 |
| PheGenI | rs199474809 |
| Biobank | rs199474809 |
| 1000 genomes | rs199474809 |
| hgdp | rs199474809 |
| ensembl | rs199474809 |
| geneview | rs199474809 |
| scholar | rs199474809 |
| rs199474809 | |
| pharmgkb | rs199474809 |
| gwascentral | rs199474809 |
| openSNP | rs199474809 |
| 23andMe | rs199474809 |
| SNPshot | rs199474809 |
| SNPdbe | rs199474809 |
| MSV3d | rs199474809 |
| GWAS Ctlg | rs199474809 |
| Max Magnitude | 6 |
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 | rs199474809(A;A) |
| Alt | rs199474809(A;A) |
| Reference | Rs199474809(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy not provided |
| Variation | info |
| Gene | MYL2 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.111352094C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000036384.3, RCV000119378.2, |
[PMID 21823217] Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
