rs111033554
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs111033554(A;G) |
| Make rs111033554(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 116120326 |
| Gene | COL10A1, NT5DC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033554 |
| dbSNP (classic) | rs111033554 |
| ClinGen | rs111033554 |
| ebi | rs111033554 |
| HLI | rs111033554 |
| Exac | rs111033554 |
| Gnomad | rs111033554 |
| Varsome | rs111033554 |
| LitVar | rs111033554 |
| Map | rs111033554 |
| PheGenI | rs111033554 |
| Biobank | rs111033554 |
| 1000 genomes | rs111033554 |
| hgdp | rs111033554 |
| ensembl | rs111033554 |
| geneview | rs111033554 |
| scholar | rs111033554 |
| rs111033554 | |
| pharmgkb | rs111033554 |
| gwascentral | rs111033554 |
| openSNP | rs111033554 |
| 23andMe | rs111033554 |
| SNPshot | rs111033554 |
| SNPdbe | rs111033554 |
| MSV3d | rs111033554 |
| GWAS Ctlg | rs111033554 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033554(G;G) |
| Alt | rs111033554(G;G) |
| Reference | Rs111033554(A;A) |
| Significance | Pathogenic |
| Disease | Metaphyseal chondrodysplasia |
| Variation | info |
| Gene | NT5DC1 COL10A1 |
| CLNDBN | Metaphyseal chondrodysplasia, Schmid type |
| Reversed | 1 |
| HGVS | NC_000006.11:g.116441489T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019032.28, |
[PMID 9852679] Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
