rs111033544
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs111033544(G;G) |
| Make rs111033544(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 116120324 |
| Gene | COL10A1, NT5DC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033544 |
| dbSNP (old) | rs111033544 |
| ClinGen | rs111033544 |
| ebi | rs111033544 |
| HLI | rs111033544 |
| Exac | rs111033544 |
| Gnomad | rs111033544 |
| Varsome | rs111033544 |
| Map | rs111033544 |
| PheGenI | rs111033544 |
| Biobank | rs111033544 |
| 1000 genomes | rs111033544 |
| hgdp | rs111033544 |
| ensembl | rs111033544 |
| gopubmed | rs111033544 |
| geneview | rs111033544 |
| scholar | rs111033544 |
| rs111033544 | |
| pharmgkb | rs111033544 |
| gwascentral | rs111033544 |
| openSNP | rs111033544 |
| 23andMe | rs111033544 |
| 23andMe all | rs111033544 |
| SNPshot | rs111033544 |
| SNPdbe | rs111033544 |
| MSV3d | rs111033544 |
| GWAS Ctlg | rs111033544 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033544(G;G) |
| Alt | rs111033544(G;G) |
| Reference | Rs111033544(T;T) |
| Significance | Pathogenic |
| Disease | Metaphyseal chondrodysplasia |
| Variation | info |
| Gene | NT5DC1 COL10A1 |
| CLNDBN | Metaphyseal chondrodysplasia, Schmid type |
| Reversed | 1 |
| HGVS | NC_000006.11:g.116441487A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019017.27, |
[PMID 8304336
] Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.
