rs111033550
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs111033550(A;A) |
| Make rs111033550(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 116125441 |
| Gene | COL10A1, NT5DC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033550 |
| dbSNP (classic) | rs111033550 |
| ClinGen | rs111033550 |
| ebi | rs111033550 |
| HLI | rs111033550 |
| Exac | rs111033550 |
| Gnomad | rs111033550 |
| Varsome | rs111033550 |
| LitVar | rs111033550 |
| Map | rs111033550 |
| PheGenI | rs111033550 |
| Biobank | rs111033550 |
| 1000 genomes | rs111033550 |
| hgdp | rs111033550 |
| ensembl | rs111033550 |
| geneview | rs111033550 |
| scholar | rs111033550 |
| rs111033550 | |
| pharmgkb | rs111033550 |
| gwascentral | rs111033550 |
| openSNP | rs111033550 |
| 23andMe | rs111033550 |
| SNPshot | rs111033550 |
| SNPdbe | rs111033550 |
| MSV3d | rs111033550 |
| GWAS Ctlg | rs111033550 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033550(A;A) |
| Alt | rs111033550(A;A) |
| Reference | Rs111033550(G;G) |
| Significance | Pathogenic |
| Disease | Metaphyseal chondrodysplasia |
| Variation | info |
| Gene | COL10A1 NT5DC1 |
| CLNDBN | Metaphyseal chondrodysplasia, Schmid type |
| Reversed | 1 |
| HGVS | NC_000006.11:g.116446604C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019027.27, |
[PMID 9067753] Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.
