rs121434464
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1 | Reported as benign in ClinVar |
| (T;T) | 0 | common in clinvar |
| Make rs121434464(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 12297 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434464 |
| dbSNP (classic) | rs121434464 |
| ClinGen | rs121434464 |
| ebi | rs121434464 |
| HLI | rs121434464 |
| Exac | rs121434464 |
| Gnomad | rs121434464 |
| Varsome | rs121434464 |
| LitVar | rs121434464 |
| Map | rs121434464 |
| PheGenI | rs121434464 |
| Biobank | rs121434464 |
| 1000 genomes | rs121434464 |
| hgdp | rs121434464 |
| ensembl | rs121434464 |
| geneview | rs121434464 |
| scholar | rs121434464 |
| rs121434464 | |
| pharmgkb | rs121434464 |
| gwascentral | rs121434464 |
| openSNP | rs121434464 |
| 23andMe | rs121434464 |
| SNPshot | rs121434464 |
| SNPdbe | rs121434464 |
| MSV3d | rs121434464 |
| GWAS Ctlg | rs121434464 |
| Max Magnitude | 1 |
| ClinVar | |
|---|---|
| Risk | Rs121434464(C;C) |
| Alt | Rs121434464(C;C) |
| Reference | Rs121434464(T;T) |
| Significance | Pathogenic |
| Disease | Cardiomyopathy |
| Variation | info |
| Gene | |
| CLNDBN | Cardiomyopathy, mitochondrial |
| Reversed | 0 |
| HGVS | NC_012920.1:m.12297T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010205.2, |
