rs727503518
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (G;G) | 0 | common in clinvar |
| Make rs727503518(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 63062230 |
| Gene | TPM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727503518 |
| dbSNP (classic) | rs727503518 |
| ClinGen | rs727503518 |
| ebi | rs727503518 |
| HLI | rs727503518 |
| Exac | rs727503518 |
| Gnomad | rs727503518 |
| Varsome | rs727503518 |
| LitVar | rs727503518 |
| Map | rs727503518 |
| PheGenI | rs727503518 |
| Biobank | rs727503518 |
| 1000 genomes | rs727503518 |
| hgdp | rs727503518 |
| ensembl | rs727503518 |
| geneview | rs727503518 |
| scholar | rs727503518 |
| rs727503518 | |
| pharmgkb | rs727503518 |
| gwascentral | rs727503518 |
| openSNP | rs727503518 |
| 23andMe | rs727503518 |
| SNPshot | rs727503518 |
| SNPdbe | rs727503518 |
| MSV3d | rs727503518 |
| GWAS Ctlg | rs727503518 |
| Max Magnitude | 6.2 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
| ClinVar | |
|---|---|
| Risk | rs727503518(A;A) |
| Alt | rs727503518(A;A) |
| Reference | Rs727503518(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy |
| Variation | info |
| Gene | TPM1 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000015.9:g.63354429G>A |
| CLNSRC | |
| CLNACC | RCV000152120.2, |
