rs67609234
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs67609234(A;A) |
| Make rs67609234(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 7 |
| Position | 94425832 |
| Gene | COL1A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs67609234 |
| dbSNP (classic) | rs67609234 |
| ClinGen | rs67609234 |
| ebi | rs67609234 |
| HLI | rs67609234 |
| Exac | rs67609234 |
| Gnomad | rs67609234 |
| Varsome | rs67609234 |
| LitVar | rs67609234 |
| Map | rs67609234 |
| PheGenI | rs67609234 |
| Biobank | rs67609234 |
| 1000 genomes | rs67609234 |
| hgdp | rs67609234 |
| ensembl | rs67609234 |
| geneview | rs67609234 |
| scholar | rs67609234 |
| rs67609234 | |
| pharmgkb | rs67609234 |
| gwascentral | rs67609234 |
| openSNP | rs67609234 |
| 23andMe | rs67609234 |
| SNPshot | rs67609234 |
| SNPdbe | rs67609234 |
| MSV3d | rs67609234 |
| GWAS Ctlg | rs67609234 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs67609234(A;A) rs67609234(T;T) |
| Alt | rs67609234(A;A) rs67609234(T;T) |
| Reference | Rs67609234(G;G) |
| Significance | Pathogenic |
| Disease | Osteogenesis imperfecta type III |
| Variation | info |
| Gene | COL1A2 |
| CLNDBN | Osteogenesis imperfecta type III |
| Reversed | 0 |
| HGVS | NC_000007.13:g.94055144G>T |
| CLNSRC | |
| CLNACC | RCV000490699.1, |
