rs72656387
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs72656387(A;A) |
| Make rs72656387(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 94409367 |
| Gene | COL1A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72656387 |
| dbSNP (classic) | rs72656387 |
| ClinGen | rs72656387 |
| ebi | rs72656387 |
| HLI | rs72656387 |
| Exac | rs72656387 |
| Gnomad | rs72656387 |
| Varsome | rs72656387 |
| LitVar | rs72656387 |
| Map | rs72656387 |
| PheGenI | rs72656387 |
| Biobank | rs72656387 |
| 1000 genomes | rs72656387 |
| hgdp | rs72656387 |
| ensembl | rs72656387 |
| geneview | rs72656387 |
| scholar | rs72656387 |
| rs72656387 | |
| pharmgkb | rs72656387 |
| gwascentral | rs72656387 |
| openSNP | rs72656387 |
| 23andMe | rs72656387 |
| SNPshot | rs72656387 |
| SNPdbe | rs72656387 |
| MSV3d | rs72656387 |
| GWAS Ctlg | rs72656387 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72656387(A;A) |
| Alt | rs72656387(A;A) |
| Reference | Rs72656387(G;G) |
| Significance | Pathogenic |
| Disease | Osteogenesis imperfecta |
| Variation | info |
| Gene | COL1A2 |
| CLNDBN | Osteogenesis imperfecta |
| Reversed | 0 |
| HGVS | NC_000007.13:g.94038679G>A |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029613.1, |
[PMID 17078022
] Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
[PMID 18311573] Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations.
