rs589759
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs589759(C;T) |
| Make rs589759(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 34789373 |
| Gene | ACTC1, LOC101928174 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs589759 |
| dbSNP (classic) | rs589759 |
| ClinGen | rs589759 |
| ebi | rs589759 |
| HLI | rs589759 |
| Exac | rs589759 |
| Gnomad | rs589759 |
| Varsome | rs589759 |
| LitVar | rs589759 |
| Map | rs589759 |
| PheGenI | rs589759 |
| Biobank | rs589759 |
| 1000 genomes | rs589759 |
| hgdp | rs589759 |
| ensembl | rs589759 |
| geneview | rs589759 |
| scholar | rs589759 |
| rs589759 | |
| pharmgkb | rs589759 |
| gwascentral | rs589759 |
| openSNP | rs589759 |
| 23andMe | rs589759 |
| SNPshot | rs589759 |
| SNPdbe | rs589759 |
| MSV3d | rs589759 |
| GWAS Ctlg | rs589759 |
| GMAF | 0.365 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 23570452
] Polymorphism of ZBTB17 gene is associated with idiopathic dilated cardiomyopathy: a case control study in a Han Chinese population
[PMID 20592870] Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.
| ClinVar | |
|---|---|
| Risk | rs589759(T;T) |
| Alt | rs589759(T;T) |
| Reference | Rs589759(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Familial restrictive cardiomyopathy Atrial septal defect Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy |
| Variation | info |
| Gene | ACTC1 LOC101928174 RP11-814P5.1 |
| CLNDBN | Familial restrictive cardiomyopathy Atrial septal defect Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant |
| Reversed | 0 |
| HGVS | NC_000015.9:g.35081574C>T |
| CLNSRC | |
| CLNACC | RCV000259811.1, RCV000286985.1, RCV000317383.1, RCV000321088.1, RCV000379143.1, |
