rs387907267
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Make rs387907267(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47335120 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387907267 |
| dbSNP (classic) | rs387907267 |
| ClinGen | rs387907267 |
| ebi | rs387907267 |
| HLI | rs387907267 |
| Exac | rs387907267 |
| Gnomad | rs387907267 |
| Varsome | rs387907267 |
| LitVar | rs387907267 |
| Map | rs387907267 |
| PheGenI | rs387907267 |
| Biobank | rs387907267 |
| 1000 genomes | rs387907267 |
| hgdp | rs387907267 |
| ensembl | rs387907267 |
| geneview | rs387907267 |
| scholar | rs387907267 |
| rs387907267 | |
| pharmgkb | rs387907267 |
| gwascentral | rs387907267 |
| openSNP | rs387907267 |
| 23andMe | rs387907267 |
| SNPshot | rs387907267 |
| SNPdbe | rs387907267 |
| MSV3d | rs387907267 |
| GWAS Ctlg | rs387907267 |
| Max Magnitude | 6.2 |
aka c.2827C>T, p.Arg943Ter, R943X and R943*
| ClinVar | |
|---|---|
| Risk | rs387907267(T;T) |
| Alt | rs387907267(T;T) |
| Reference | Rs387907267(C;C) |
| Significance | Other |
| Disease | Familial hypertrophic cardiomyopathy 4 not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Familial hypertrophic cardiomyopathy 4 not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47356671G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000030699.9, RCV000158189.4, RCV000211810.2, RCV000248559.1, RCV000471886.1, |
One of three known Dutch founder mutations for hypertrophic cardiomyopathy. This mutation occurs more commonly in the south and south-western parts of the Netherlands. [PMID 20505798
]
