rs181834806
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 2 | Conflicting Diagnosis for Hypertrophic Cardiomyopathy |
| (T;T) | 0 | common in clinvar |
| Make rs181834806(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47342658 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs181834806 |
| dbSNP (classic) | rs181834806 |
| ClinGen | rs181834806 |
| ebi | rs181834806 |
| HLI | rs181834806 |
| Exac | rs181834806 |
| Gnomad | rs181834806 |
| Varsome | rs181834806 |
| LitVar | rs181834806 |
| Map | rs181834806 |
| PheGenI | rs181834806 |
| Biobank | rs181834806 |
| 1000 genomes | rs181834806 |
| hgdp | rs181834806 |
| ensembl | rs181834806 |
| geneview | rs181834806 |
| scholar | rs181834806 |
| rs181834806 | |
| pharmgkb | rs181834806 |
| gwascentral | rs181834806 |
| openSNP | rs181834806 |
| 23andMe | rs181834806 |
| SNPshot | rs181834806 |
| SNPdbe | rs181834806 |
| MSV3d | rs181834806 |
| GWAS Ctlg | rs181834806 |
| GMAF | 0.001837 |
| Max Magnitude | 2 |
In 2016 it was noticed that Black Americans were being genetically misdiagnosed for variants that were common in unaffected black Americans. [1]
In the past people with this variant were told that this variant is Likely Pathogenic for Hypertrophic Cardiomyopathy. With inclusion of new ethnic population studies this is now considered a uncertain or likely benign variants on labs reporting to ClinVar as of the date of this entry.
| ClinVar | |
|---|---|
| Risk | rs181834806(C;C) |
| Alt | rs181834806(C;C) |
| Reference | Rs181834806(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Primary dilated cardiomyopathy not specified Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Primary dilated cardiomyopathy not specified Hypertrophic cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000011.9:g.47364209T>C |
| CLNSRC | Children's Hospital of Eastern Ontario |
| CLNACC | RCV000030280.1, RCV000151126.5, RCV000469629.1, |
