rs869248137
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.5 | Myofibrillar Myopathy |
| Make rs869248137(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 10 |
| Position | 119676479 |
| Gene | BAG3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs869248137 |
| dbSNP (classic) | rs869248137 |
| ClinGen | rs869248137 |
| ebi | rs869248137 |
| HLI | rs869248137 |
| Exac | rs869248137 |
| Gnomad | rs869248137 |
| Varsome | rs869248137 |
| LitVar | rs869248137 |
| Map | rs869248137 |
| PheGenI | rs869248137 |
| Biobank | rs869248137 |
| 1000 genomes | rs869248137 |
| hgdp | rs869248137 |
| ensembl | rs869248137 |
| geneview | rs869248137 |
| scholar | rs869248137 |
| rs869248137 | |
| pharmgkb | rs869248137 |
| gwascentral | rs869248137 |
| openSNP | rs869248137 |
| 23andMe | rs869248137 |
| SNPshot | rs869248137 |
| SNPdbe | rs869248137 |
| MSV3d | rs869248137 |
| GWAS Ctlg | rs869248137 |
| Max Magnitude | 6.5 |
| ClinVar | |
|---|---|
| Risk | rs869248137(T;T) |
| Alt | rs869248137(T;T) |
| Reference | Rs869248137(C;C) |
| Significance | Pathogenic |
| Disease | Primary dilated cardiomyopathy not provided Dilated cardiomyopathy 1HH |
| Variation | info |
| Gene | BAG3 |
| CLNDBN | Primary dilated cardiomyopathy not provided Dilated cardiomyopathy 1HH |
| Reversed | 0 |
| HGVS | NC_000010.10:g.121435991C>T |
| CLNSRC | |
| CLNACC | RCV000215224.1, RCV000414723.1, RCV000459684.1, |
