rs1053312
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 0 | |
| (G;G) | 0 | common in clinvar |
| Make rs1053312(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 46003475 |
| Gene | COL6A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1053312 |
| dbSNP (classic) | rs1053312 |
| ClinGen | rs1053312 |
| ebi | rs1053312 |
| HLI | rs1053312 |
| Exac | rs1053312 |
| Gnomad | rs1053312 |
| Varsome | rs1053312 |
| LitVar | rs1053312 |
| Map | rs1053312 |
| PheGenI | rs1053312 |
| Biobank | rs1053312 |
| 1000 genomes | rs1053312 |
| hgdp | rs1053312 |
| ensembl | rs1053312 |
| geneview | rs1053312 |
| scholar | rs1053312 |
| rs1053312 | |
| pharmgkb | rs1053312 |
| gwascentral | rs1053312 |
| openSNP | rs1053312 |
| 23andMe | rs1053312 |
| SNPshot | rs1053312 |
| SNPdbe | rs1053312 |
| MSV3d | rs1053312 |
| GWAS Ctlg | rs1053312 |
| GMAF | 0.2773 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 12958705
] Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.
| ClinVar | |
|---|---|
| Risk | rs1053312(A;A) |
| Alt | rs1053312(A;A) |
| Reference | Rs1053312(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Collagen VI-related myopathy |
| Variation | info |
| Gene | COL6A1 |
| CLNDBN | not specified Collagen VI-related myopathy |
| Reversed | 0 |
| HGVS | NC_000021.8:g.47423389G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000079798.7, RCV000305303.1, |
