rs318240762
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs318240762(C;C) |
| Make rs318240762(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 22165439 |
| Gene | BMP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs318240762 |
| dbSNP (classic) | rs318240762 |
| ClinGen | rs318240762 |
| ebi | rs318240762 |
| HLI | rs318240762 |
| Exac | rs318240762 |
| Gnomad | rs318240762 |
| Varsome | rs318240762 |
| LitVar | rs318240762 |
| Map | rs318240762 |
| PheGenI | rs318240762 |
| Biobank | rs318240762 |
| 1000 genomes | rs318240762 |
| hgdp | rs318240762 |
| ensembl | rs318240762 |
| geneview | rs318240762 |
| scholar | rs318240762 |
| rs318240762 | |
| pharmgkb | rs318240762 |
| gwascentral | rs318240762 |
| openSNP | rs318240762 |
| 23andMe | rs318240762 |
| SNPshot | rs318240762 |
| SNPdbe | rs318240762 |
| MSV3d | rs318240762 |
| GWAS Ctlg | rs318240762 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs318240762(C;C) |
| Alt | rs318240762(C;C) |
| Reference | Rs318240762(G;G) |
| Significance | Pathogenic |
| Disease | Osteogenesis imperfecta not provided |
| Variation | info |
| Gene | BMP1 |
| CLNDBN | Osteogenesis imperfecta, type xiii not provided |
| Reversed | 0 |
| HGVS | NC_000008.10:g.22022952G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000030847.25, RCV000059794.1, |
