rs104894370
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (T;T) | 0 | common in clinvar |
| Make rs104894370(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 110919145 |
| Gene | MYL2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894370 |
| dbSNP (classic) | rs104894370 |
| ClinGen | rs104894370 |
| ebi | rs104894370 |
| HLI | rs104894370 |
| Exac | rs104894370 |
| Gnomad | rs104894370 |
| Varsome | rs104894370 |
| LitVar | rs104894370 |
| Map | rs104894370 |
| PheGenI | rs104894370 |
| Biobank | rs104894370 |
| 1000 genomes | rs104894370 |
| hgdp | rs104894370 |
| ensembl | rs104894370 |
| geneview | rs104894370 |
| scholar | rs104894370 |
| rs104894370 | |
| pharmgkb | rs104894370 |
| gwascentral | rs104894370 |
| openSNP | rs104894370 |
| 23andMe | rs104894370 |
| SNPshot | rs104894370 |
| SNPdbe | rs104894370 |
| MSV3d | rs104894370 |
| GWAS Ctlg | rs104894370 |
| Merged from | Rs28932774 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs104894370(C;C) |
| Alt | rs104894370(C;C) |
| Reference | Rs104894370(T;T) |
| Significance | Pathogenic |
| Disease | Familial hypertrophic cardiomyopathy 10 Cardiovascular phenotype |
| Variation | info |
| Gene | MYL2 |
| CLNDBN | Familial hypertrophic cardiomyopathy 10 Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000012.11:g.111356949A>G |
| CLNSRC | Leiden Muscular Dystrophy pages (MYL2) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015112.25, RCV000246859.1, |
[PMID 9535554] Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.
[PMID 12707239] Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
