rs111437311
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 6 | Familial hypertrophic cardiomyopathy (possible) |
| Make rs111437311(A;T) |
| Make rs111437311(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 47342576 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111437311 |
| dbSNP (classic) | rs111437311 |
| ClinGen | rs111437311 |
| ebi | rs111437311 |
| HLI | rs111437311 |
| Exac | rs111437311 |
| Gnomad | rs111437311 |
| Varsome | rs111437311 |
| LitVar | rs111437311 |
| Map | rs111437311 |
| PheGenI | rs111437311 |
| Biobank | rs111437311 |
| 1000 genomes | rs111437311 |
| hgdp | rs111437311 |
| ensembl | rs111437311 |
| geneview | rs111437311 |
| scholar | rs111437311 |
| rs111437311 | |
| pharmgkb | rs111437311 |
| gwascentral | rs111437311 |
| openSNP | rs111437311 |
| 23andMe | rs111437311 |
| SNPshot | rs111437311 |
| SNPdbe | rs111437311 |
| MSV3d | rs111437311 |
| GWAS Ctlg | rs111437311 |
| Max Magnitude | 6 |
The rare minor allele of this variant, c.1624+2T>C, is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685]. Another variant, c.1624+2T>A, is reported in dbSNP, but clinical impact is unknown.
[PMID 12707239] Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
| ClinVar | |
|---|---|
| Risk | rs111437311(G;G) rs111437311(T;T) |
| Alt | rs111437311(G;G) rs111437311(T;T) |
| Reference | Rs111437311(A;A) |
| Significance | Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy not provided |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.47364127A>G |
| CLNSRC | |
| CLNACC | RCV000151121.2, RCV000158105.2, |
