rs774115247
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs774115247(G;T) |
| Make rs774115247(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 237354922 |
| Gene | COL6A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs774115247 |
| dbSNP (classic) | rs774115247 |
| ClinGen | rs774115247 |
| ebi | rs774115247 |
| HLI | rs774115247 |
| Exac | rs774115247 |
| Gnomad | rs774115247 |
| Varsome | rs774115247 |
| LitVar | rs774115247 |
| Map | rs774115247 |
| PheGenI | rs774115247 |
| Biobank | rs774115247 |
| 1000 genomes | rs774115247 |
| hgdp | rs774115247 |
| ensembl | rs774115247 |
| geneview | rs774115247 |
| scholar | rs774115247 |
| rs774115247 | |
| pharmgkb | rs774115247 |
| gwascentral | rs774115247 |
| openSNP | rs774115247 |
| 23andMe | rs774115247 |
| SNPshot | rs774115247 |
| SNPdbe | rs774115247 |
| MSV3d | rs774115247 |
| GWAS Ctlg | rs774115247 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs774115247(T;T) |
| Alt | rs774115247(T;T) |
| Reference | Rs774115247(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | COL6A3 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.238263565G>A |
| CLNSRC | |
| CLNACC | RCV000493437.1, |
