rs267606750
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs267606750(A;A) |
| Make rs267606750(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 46125509 |
| Gene | COL6A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267606750 |
| dbSNP (classic) | rs267606750 |
| ClinGen | rs267606750 |
| ebi | rs267606750 |
| HLI | rs267606750 |
| Exac | rs267606750 |
| Gnomad | rs267606750 |
| Varsome | rs267606750 |
| LitVar | rs267606750 |
| Map | rs267606750 |
| PheGenI | rs267606750 |
| Biobank | rs267606750 |
| 1000 genomes | rs267606750 |
| hgdp | rs267606750 |
| ensembl | rs267606750 |
| geneview | rs267606750 |
| scholar | rs267606750 |
| rs267606750 | |
| pharmgkb | rs267606750 |
| gwascentral | rs267606750 |
| openSNP | rs267606750 |
| 23andMe | rs267606750 |
| SNPshot | rs267606750 |
| SNPdbe | rs267606750 |
| MSV3d | rs267606750 |
| GWAS Ctlg | rs267606750 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs267606750(A;A) |
| Alt | rs267606750(A;A) |
| Reference | Rs267606750(G;G) |
| Significance | Pathogenic |
| Disease | Bethlem myopathy 1 |
| Variation | info |
| Gene | COL6A2 |
| CLNDBN | Bethlem myopathy 1 |
| Reversed | 0 |
| HGVS | NC_000021.8:g.47545423G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018699.29, |
