rs3134560
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs3134560(A;A) |
| Make rs3134560(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 12192 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3134560 |
| dbSNP (classic) | rs3134560 |
| ClinGen | rs3134560 |
| ebi | rs3134560 |
| HLI | rs3134560 |
| Exac | rs3134560 |
| Gnomad | rs3134560 |
| Varsome | rs3134560 |
| LitVar | rs3134560 |
| Map | rs3134560 |
| PheGenI | rs3134560 |
| Biobank | rs3134560 |
| 1000 genomes | rs3134560 |
| hgdp | rs3134560 |
| ensembl | rs3134560 |
| geneview | rs3134560 |
| scholar | rs3134560 |
| rs3134560 | |
| pharmgkb | rs3134560 |
| gwascentral | rs3134560 |
| openSNP | rs3134560 |
| 23andMe | rs3134560 |
| SNPshot | rs3134560 |
| SNPdbe | rs3134560 |
| MSV3d | rs3134560 |
| GWAS Ctlg | rs3134560 |
| GMAF | 0.002806 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs3134560(A;A) |
| Alt | rs3134560(A;A) |
| Reference | Rs3134560(G;G) |
| Significance | Pathogenic |
| Disease | Cardiomyopathy |
| Variation | info |
| Gene | |
| CLNDBN | Cardiomyopathy, idiopathic dilated, mitochondrial Cardiomyopathy, hypertrophic, mitochondrial |
| Reversed | 0 |
| HGVS | NC_012920.1:m.12192G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010231.4, RCV000010232.4, |
