rs121913626
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (G;G) | 0 | common in clinvar |
| (G;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Make rs121913626(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 23427723 |
| Gene | MYH7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913626 |
| dbSNP (classic) | rs121913626 |
| ClinGen | rs121913626 |
| ebi | rs121913626 |
| HLI | rs121913626 |
| Exac | rs121913626 |
| Gnomad | rs121913626 |
| Varsome | rs121913626 |
| LitVar | rs121913626 |
| Map | rs121913626 |
| PheGenI | rs121913626 |
| Biobank | rs121913626 |
| 1000 genomes | rs121913626 |
| hgdp | rs121913626 |
| ensembl | rs121913626 |
| geneview | rs121913626 |
| scholar | rs121913626 |
| rs121913626 | |
| pharmgkb | rs121913626 |
| gwascentral | rs121913626 |
| openSNP | rs121913626 |
| 23andMe | rs121913626 |
| SNPshot | rs121913626 |
| SNPdbe | rs121913626 |
| MSV3d | rs121913626 |
| GWAS Ctlg | rs121913626 |
| Max Magnitude | 6.2 |
rs121913626, also known as c.1750G>C and p.Gly584Arg, is a mutation in the MYH7 gene considered to be an autosomal dominant leading to familial hypertrophic cardiomyopathy, according to multiple sources in ClinVar.
This mutation was the fourth most common pathogenic variant seen in 2,912 unrelated individuals with nonsyndromic hypertrophic cardiomyopathy (HCM) presentations over a 10 year period (2004-2014) at the Partners Healthcare Personalized Medicine clinic in Boston.[PMID 25611685]
Note: 23andMe refers to this SNP as i6015303.
| ClinVar | |
|---|---|
| Risk | rs121913626(A;A) rs121913626(C;C) |
| Alt | rs121913626(A;A) rs121913626(C;C) |
| Reference | Rs121913626(G;G) |
| Significance | Other |
| Disease | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy not specified Cardiovascular phenotype |
| Variation | info |
| Gene | MYH7 |
| CLNDBN | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy not specified Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000014.8:g.23896932C>G; NC_000014.8:g.23896932C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015146.24, RCV000035744.4, RCV000223743.2, RCV000471604.1, RCV000035743.3, RCV000229519.2, RCV000242011.1, |
