rs72648333
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs72648333(G;T) |
| Make rs72648333(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 50195099 |
| Gene | COL1A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72648333 |
| dbSNP (classic) | rs72648333 |
| ClinGen | rs72648333 |
| ebi | rs72648333 |
| HLI | rs72648333 |
| Exac | rs72648333 |
| Gnomad | rs72648333 |
| Varsome | rs72648333 |
| LitVar | rs72648333 |
| Map | rs72648333 |
| PheGenI | rs72648333 |
| Biobank | rs72648333 |
| 1000 genomes | rs72648333 |
| hgdp | rs72648333 |
| ensembl | rs72648333 |
| geneview | rs72648333 |
| scholar | rs72648333 |
| rs72648333 | |
| pharmgkb | rs72648333 |
| gwascentral | rs72648333 |
| openSNP | rs72648333 |
| 23andMe | rs72648333 |
| SNPshot | rs72648333 |
| SNPdbe | rs72648333 |
| MSV3d | rs72648333 |
| GWAS Ctlg | rs72648333 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72648333(T;T) |
| Alt | rs72648333(T;T) |
| Reference | Rs72648333(G;G) |
| Significance | Pathogenic |
| Disease | Osteogenesis imperfecta |
| Variation | info |
| Gene | COL1A1 |
| CLNDBN | Osteogenesis imperfecta, recessive perinatal lethal |
| Reversed | 1 |
| HGVS | NC_000017.10:g.48272460C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018860.28, |
