rs6910140
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs6910140(C;C) |
| Make rs6910140(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 6 |
| Position | 70234554 |
| Gene | COL9A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6910140 |
| dbSNP (classic) | rs6910140 |
| ClinGen | rs6910140 |
| ebi | rs6910140 |
| HLI | rs6910140 |
| Exac | rs6910140 |
| Gnomad | rs6910140 |
| Varsome | rs6910140 |
| LitVar | rs6910140 |
| Map | rs6910140 |
| PheGenI | rs6910140 |
| Biobank | rs6910140 |
| 1000 genomes | rs6910140 |
| hgdp | rs6910140 |
| ensembl | rs6910140 |
| geneview | rs6910140 |
| scholar | rs6910140 |
| rs6910140 | |
| pharmgkb | rs6910140 |
| gwascentral | rs6910140 |
| openSNP | rs6910140 |
| 23andMe | rs6910140 |
| SNPshot | rs6910140 |
| SNPdbe | rs6910140 |
| MSV3d | rs6910140 |
| GWAS Ctlg | rs6910140 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 25774918
] COL9A1 Gene Polymorphism Is Associated with Kashin-Beck Disease in a Northwest Chinese Han Population
| ClinVar | |
|---|---|
| Risk | rs6910140(C;C) rs6910140(G;G) |
| Alt | rs6910140(C;C) rs6910140(G;G) |
| Reference | Rs6910140(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Multiple Epiphyseal Dysplasia Stickler Syndrome |
| Variation | info |
| Gene | COL9A1 |
| CLNDBN | not specified Multiple Epiphyseal Dysplasia, Dominant Stickler Syndrome, Recessive |
| Reversed | 0 |
| HGVS | NC_000006.11:g.70944257T>C |
| CLNSRC | |
| CLNACC | RCV000251679.2, RCV000270277.1, RCV000360320.1, |
