rs1801182
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1801182(C;C) |
| Make rs1801182(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 94398387 |
| Gene | COL1A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801182 |
| dbSNP (classic) | rs1801182 |
| ClinGen | rs1801182 |
| ebi | rs1801182 |
| HLI | rs1801182 |
| Exac | rs1801182 |
| Gnomad | rs1801182 |
| Varsome | rs1801182 |
| LitVar | rs1801182 |
| Map | rs1801182 |
| PheGenI | rs1801182 |
| Biobank | rs1801182 |
| 1000 genomes | rs1801182 |
| hgdp | rs1801182 |
| ensembl | rs1801182 |
| geneview | rs1801182 |
| scholar | rs1801182 |
| rs1801182 | |
| pharmgkb | rs1801182 |
| gwascentral | rs1801182 |
| openSNP | rs1801182 |
| 23andMe | rs1801182 |
| SNPshot | rs1801182 |
| SNPdbe | rs1801182 |
| MSV3d | rs1801182 |
| GWAS Ctlg | rs1801182 |
| GMAF | 0.1961 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21602843
] No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women
| ClinVar | |
|---|---|
| Risk | rs1801182(C;C) |
| Alt | rs1801182(C;C) |
| Reference | Rs1801182(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Ehlers-Danlos syndrome Osteogenesis Imperfecta |
| Variation | info |
| Gene | COL1A2 |
| CLNDBN | not specified Ehlers-Danlos syndrome, procollagen proteinase deficient Osteogenesis Imperfecta, Dominant |
| Reversed | 0 |
| HGVS | NC_000007.13:g.94027699T>C |
| CLNSRC | |
| CLNACC | RCV000176976.3, RCV000275828.1, RCV000333509.1, |
