rs1800238
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1800238(G;T) |
| Make rs1800238(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 94417738 |
| Gene | COL1A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800238 |
| dbSNP (classic) | rs1800238 |
| ClinGen | rs1800238 |
| ebi | rs1800238 |
| HLI | rs1800238 |
| Exac | rs1800238 |
| Gnomad | rs1800238 |
| Varsome | rs1800238 |
| LitVar | rs1800238 |
| Map | rs1800238 |
| PheGenI | rs1800238 |
| Biobank | rs1800238 |
| 1000 genomes | rs1800238 |
| hgdp | rs1800238 |
| ensembl | rs1800238 |
| geneview | rs1800238 |
| scholar | rs1800238 |
| rs1800238 | |
| pharmgkb | rs1800238 |
| gwascentral | rs1800238 |
| openSNP | rs1800238 |
| 23andMe | rs1800238 |
| SNPshot | rs1800238 |
| SNPdbe | rs1800238 |
| MSV3d | rs1800238 |
| GWAS Ctlg | rs1800238 |
| GMAF | 0.1143 |
| Max Magnitude | 0 |
[PMID 23800505] Associations of Collagen Type I α2 Polymorphisms with the Presence of Intracranial Aneurysms in Patients from Germany
| ClinVar | |
|---|---|
| Risk | rs1800238(T;T) |
| Alt | rs1800238(T;T) |
| Reference | Rs1800238(G;G) |
| Significance | Non-pathogenic |
| Disease | Osteogenesis Imperfecta Ehlers-Danlos syndrome not specified |
| Variation | info |
| Gene | COL1A2 |
| CLNDBN | Osteogenesis Imperfecta, Dominant Ehlers-Danlos syndrome, procollagen proteinase deficient not specified |
| Reversed | 0 |
| HGVS | NC_000007.13:g.94047050G>T |
| CLNSRC | |
| CLNACC | RCV000296029.1, RCV000371564.1, RCV000441385.1, |
[PMID 29086084] The association between collagen gene polymorphisms and intracranial aneurysms: a meta-analysis.
