rs775180716
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs775180716(C;T) |
| Make rs775180716(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 10 |
| Position | 86692544 |
| Gene | LDB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs775180716 |
| dbSNP (classic) | rs775180716 |
| ClinGen | rs775180716 |
| ebi | rs775180716 |
| HLI | rs775180716 |
| Exac | rs775180716 |
| Gnomad | rs775180716 |
| Varsome | rs775180716 |
| LitVar | rs775180716 |
| Map | rs775180716 |
| PheGenI | rs775180716 |
| Biobank | rs775180716 |
| 1000 genomes | rs775180716 |
| hgdp | rs775180716 |
| ensembl | rs775180716 |
| geneview | rs775180716 |
| scholar | rs775180716 |
| rs775180716 | |
| pharmgkb | rs775180716 |
| gwascentral | rs775180716 |
| openSNP | rs775180716 |
| 23andMe | rs775180716 |
| SNPshot | rs775180716 |
| SNPdbe | rs775180716 |
| MSV3d | rs775180716 |
| GWAS Ctlg | rs775180716 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs775180716(T;T) |
| Alt | rs775180716(T;T) |
| Reference | Rs775180716(C;C) |
| Significance | Pathogenic |
| Disease | Myofibrillar myopathy |
| Variation | info |
| Gene | LDB3 |
| CLNDBN | Myofibrillar myopathy |
| Reversed | 0 |
| HGVS | NC_000010.10:g.88452301C>T |
| CLNSRC | |
| CLNACC | RCV000239712.1, |
