rs1370154
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1370154(A;A) |
| Make rs1370154(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 34790024 |
| Gene | ACTC1, LOC101928174 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1370154 |
| dbSNP (classic) | rs1370154 |
| ClinGen | rs1370154 |
| ebi | rs1370154 |
| HLI | rs1370154 |
| Exac | rs1370154 |
| Gnomad | rs1370154 |
| Varsome | rs1370154 |
| LitVar | rs1370154 |
| Map | rs1370154 |
| PheGenI | rs1370154 |
| Biobank | rs1370154 |
| 1000 genomes | rs1370154 |
| hgdp | rs1370154 |
| ensembl | rs1370154 |
| geneview | rs1370154 |
| scholar | rs1370154 |
| rs1370154 | |
| pharmgkb | rs1370154 |
| gwascentral | rs1370154 |
| openSNP | rs1370154 |
| 23andMe | rs1370154 |
| SNPshot | rs1370154 |
| SNPdbe | rs1370154 |
| MSV3d | rs1370154 |
| GWAS Ctlg | rs1370154 |
| GMAF | 0.2778 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 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 | rs1370154(A;A) rs1370154(C;C) |
| Alt | rs1370154(A;A) rs1370154(C;C) |
| Reference | Rs1370154(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Familial restrictive cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy Left ventricular noncompaction cardiomyopathy Atrial septal defect |
| Variation | info |
| Gene | ACTC1 LOC101928174 RP11-814P5.1 |
| CLNDBN | Familial restrictive cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Atrial septal defect |
| Reversed | 1 |
| HGVS | NC_000015.9:g.35082225C>T |
| CLNSRC | |
| CLNACC | RCV000289854.1, RCV000343610.1, RCV000347190.1, RCV000381837.1, RCV000392624.1, |
