rs1042917
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1042917(A;A) |
| Make rs1042917(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 46125854 |
| Gene | COL6A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042917 |
| dbSNP (classic) | rs1042917 |
| ClinGen | rs1042917 |
| ebi | rs1042917 |
| HLI | rs1042917 |
| Exac | rs1042917 |
| Gnomad | rs1042917 |
| Varsome | rs1042917 |
| LitVar | rs1042917 |
| Map | rs1042917 |
| PheGenI | rs1042917 |
| Biobank | rs1042917 |
| 1000 genomes | rs1042917 |
| hgdp | rs1042917 |
| ensembl | rs1042917 |
| geneview | rs1042917 |
| scholar | rs1042917 |
| rs1042917 | |
| pharmgkb | rs1042917 |
| gwascentral | rs1042917 |
| openSNP | rs1042917 |
| 23andMe | rs1042917 |
| SNPshot | rs1042917 |
| SNPdbe | rs1042917 |
| MSV3d | rs1042917 |
| GWAS Ctlg | rs1042917 |
| GMAF | 0.4421 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20466643] [Development of 3-enzyme pyrosequencing system and its application in rapid diagnosis of Down's syndrome].
| ClinVar | |
|---|---|
| Risk | rs1042917(A;A) rs1042917(T;T) |
| Alt | rs1042917(A;A) rs1042917(T;T) |
| Reference | Rs1042917(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Myosclerosis Collagen VI-related myopathy |
| Variation | info |
| Gene | COL6A2 |
| CLNDBN | not specified Myosclerosis Collagen VI-related myopathy |
| Reversed | 0 |
| HGVS | NC_000021.8:g.47545768G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000079868.6, RCV000320471.1, RCV000380396.1, |
