rs117749531
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs117749531(A;A) |
| Make rs117749531(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 10 |
| Position | 119676794 |
| Gene | BAG3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs117749531 |
| dbSNP (classic) | rs117749531 |
| ClinGen | rs117749531 |
| ebi | rs117749531 |
| HLI | rs117749531 |
| Exac | rs117749531 |
| Gnomad | rs117749531 |
| Varsome | rs117749531 |
| LitVar | rs117749531 |
| Map | rs117749531 |
| PheGenI | rs117749531 |
| Biobank | rs117749531 |
| 1000 genomes | rs117749531 |
| hgdp | rs117749531 |
| ensembl | rs117749531 |
| geneview | rs117749531 |
| scholar | rs117749531 |
| rs117749531 | |
| pharmgkb | rs117749531 |
| gwascentral | rs117749531 |
| openSNP | rs117749531 |
| 23andMe | rs117749531 |
| SNPshot | rs117749531 |
| SNPdbe | rs117749531 |
| MSV3d | rs117749531 |
| GWAS Ctlg | rs117749531 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs117749531(A;A) rs117749531(T;T) |
| Alt | rs117749531(A;A) rs117749531(T;T) |
| Reference | Rs117749531(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified Myofibrillar Myopathy Dilated Cardiomyopathy Dilated cardiomyopathy 1HH |
| Variation | info |
| Gene | BAG3 |
| CLNDBN | not specified Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Dilated cardiomyopathy 1HH |
| Reversed | 0 |
| HGVS | NC_000010.10:g.121436306G>A; NC_000010.10:g.121436306G>T |
| CLNSRC | |
| CLNACC | RCV000150185.1, RCV000296394.1, RCV000335067.1, RCV000458004.1, |
