rs193922173
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs193922173(A;A) |
| Make rs193922173(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 94408220 |
| Gene | COL1A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922173 |
| dbSNP (classic) | rs193922173 |
| ClinGen | rs193922173 |
| ebi | rs193922173 |
| HLI | rs193922173 |
| Exac | rs193922173 |
| Gnomad | rs193922173 |
| Varsome | rs193922173 |
| LitVar | rs193922173 |
| Map | rs193922173 |
| PheGenI | rs193922173 |
| Biobank | rs193922173 |
| 1000 genomes | rs193922173 |
| hgdp | rs193922173 |
| ensembl | rs193922173 |
| geneview | rs193922173 |
| scholar | rs193922173 |
| rs193922173 | |
| pharmgkb | rs193922173 |
| gwascentral | rs193922173 |
| openSNP | rs193922173 |
| 23andMe | rs193922173 |
| SNPshot | rs193922173 |
| SNPdbe | rs193922173 |
| MSV3d | rs193922173 |
| GWAS Ctlg | rs193922173 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922173(A;A) |
| Alt | rs193922173(A;A) |
| Reference | Rs193922173(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Osteogenesis imperfecta |
| Variation | info |
| Gene | COL1A2 |
| CLNDBN | Osteogenesis imperfecta |
| Reversed | 0 |
| HGVS | NC_000007.13:g.94037532G>A |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029611.1, |
