rs886044125
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Chromosome | 17 |
| Position | 50188610 |
| Gene | COL1A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886044125 |
| dbSNP (classic) | rs886044125 |
| ClinGen | rs886044125 |
| ebi | rs886044125 |
| HLI | rs886044125 |
| Exac | rs886044125 |
| Gnomad | rs886044125 |
| Varsome | rs886044125 |
| LitVar | rs886044125 |
| Map | rs886044125 |
| PheGenI | rs886044125 |
| Biobank | rs886044125 |
| 1000 genomes | rs886044125 |
| hgdp | rs886044125 |
| ensembl | rs886044125 |
| geneview | rs886044125 |
| scholar | rs886044125 |
| rs886044125 | |
| pharmgkb | rs886044125 |
| gwascentral | rs886044125 |
| openSNP | rs886044125 |
| 23andMe | rs886044125 |
| SNPshot | rs886044125 |
| SNPdbe | rs886044125 |
| MSV3d | rs886044125 |
| GWAS Ctlg | rs886044125 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886044125(T;T) |
| Alt | rs886044125(T;T) |
| Reference | Rs886044125(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Osteogenesis imperfecta |
| Variation | info |
| Gene | COL1A1 |
| CLNDBN | Osteogenesis imperfecta, recessive perinatal lethal |
| Reversed | 0 |
| HGVS | NC_000017.10:g.48265971C>T |
| CLNSRC | |
| CLNACC | RCV000352723.1, |
