rs72653173
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs72653173(C;T) |
| Make rs72653173(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 50188765 |
| Gene | COL1A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72653173 |
| dbSNP (classic) | rs72653173 |
| ClinGen | rs72653173 |
| ebi | rs72653173 |
| HLI | rs72653173 |
| Exac | rs72653173 |
| Gnomad | rs72653173 |
| Varsome | rs72653173 |
| LitVar | rs72653173 |
| Map | rs72653173 |
| PheGenI | rs72653173 |
| Biobank | rs72653173 |
| 1000 genomes | rs72653173 |
| hgdp | rs72653173 |
| ensembl | rs72653173 |
| geneview | rs72653173 |
| scholar | rs72653173 |
| rs72653173 | |
| pharmgkb | rs72653173 |
| gwascentral | rs72653173 |
| openSNP | rs72653173 |
| 23andMe | rs72653173 |
| SNPshot | rs72653173 |
| SNPdbe | rs72653173 |
| MSV3d | rs72653173 |
| GWAS Ctlg | rs72653173 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72653173(T;T) |
| Alt | rs72653173(T;T) |
| Reference | Rs72653173(C;C) |
| Significance | Pathogenic |
| Disease | Osteogenesis imperfecta |
| Variation | info |
| Gene | COL1A1 |
| CLNDBN | Osteogenesis imperfecta |
| Reversed | 1 |
| HGVS | NC_000017.10:g.48266126G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000029575.1, |
[PMID 11113887] Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy.
[PMID 15024745] Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
[PMID 15241796] Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
[PMID 17392686
] A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.
