rs72648320
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs72648320(A;A) |
| Make rs72648320(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 50195433 |
| Gene | COL1A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72648320 |
| dbSNP (classic) | rs72648320 |
| ClinGen | rs72648320 |
| ebi | rs72648320 |
| HLI | rs72648320 |
| Exac | rs72648320 |
| Gnomad | rs72648320 |
| Varsome | rs72648320 |
| LitVar | rs72648320 |
| Map | rs72648320 |
| PheGenI | rs72648320 |
| Biobank | rs72648320 |
| 1000 genomes | rs72648320 |
| hgdp | rs72648320 |
| ensembl | rs72648320 |
| geneview | rs72648320 |
| scholar | rs72648320 |
| rs72648320 | |
| pharmgkb | rs72648320 |
| gwascentral | rs72648320 |
| openSNP | rs72648320 |
| 23andMe | rs72648320 |
| SNPshot | rs72648320 |
| SNPdbe | rs72648320 |
| MSV3d | rs72648320 |
| GWAS Ctlg | rs72648320 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72648320(A;A) |
| Alt | rs72648320(A;A) |
| Reference | Rs72648320(G;G) |
| Significance | Pathogenic |
| Disease | Osteogenesis imperfecta |
| Variation | info |
| Gene | COL1A1 |
| CLNDBN | Osteogenesis imperfecta |
| Reversed | 1 |
| HGVS | NC_000017.10:g.48272794C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000029553.1, |
[PMID 7942841
] Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.
