rs774521989
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs774521989(C;T) |
| Make rs774521989(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 21 |
| Position | 46132125 |
| Gene | COL6A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs774521989 |
| dbSNP (classic) | rs774521989 |
| ClinGen | rs774521989 |
| ebi | rs774521989 |
| HLI | rs774521989 |
| Exac | rs774521989 |
| Gnomad | rs774521989 |
| Varsome | rs774521989 |
| LitVar | rs774521989 |
| Map | rs774521989 |
| PheGenI | rs774521989 |
| Biobank | rs774521989 |
| 1000 genomes | rs774521989 |
| hgdp | rs774521989 |
| ensembl | rs774521989 |
| geneview | rs774521989 |
| scholar | rs774521989 |
| rs774521989 | |
| pharmgkb | rs774521989 |
| gwascentral | rs774521989 |
| openSNP | rs774521989 |
| 23andMe | rs774521989 |
| SNPshot | rs774521989 |
| SNPdbe | rs774521989 |
| MSV3d | rs774521989 |
| GWAS Ctlg | rs774521989 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs774521989(T;T) |
| Alt | rs774521989(T;T) |
| Reference | Rs774521989(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Myopathy not specified |
| Variation | info |
| Gene | COL6A2 |
| CLNDBN | Myopathy not specified |
| Reversed | 0 |
| HGVS | NC_000021.8:g.47552039C>T |
| CLNSRC | |
| CLNACC | RCV000194202.1, RCV000266193.1, |
