rs765430501
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs765430501(A;A) |
| Make rs765430501(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 21 |
| Position | 46119806 |
| Gene | COL6A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765430501 |
| dbSNP (classic) | rs765430501 |
| ClinGen | rs765430501 |
| ebi | rs765430501 |
| HLI | rs765430501 |
| Exac | rs765430501 |
| Gnomad | rs765430501 |
| Varsome | rs765430501 |
| LitVar | rs765430501 |
| Map | rs765430501 |
| PheGenI | rs765430501 |
| Biobank | rs765430501 |
| 1000 genomes | rs765430501 |
| hgdp | rs765430501 |
| ensembl | rs765430501 |
| geneview | rs765430501 |
| scholar | rs765430501 |
| rs765430501 | |
| pharmgkb | rs765430501 |
| gwascentral | rs765430501 |
| openSNP | rs765430501 |
| 23andMe | rs765430501 |
| SNPshot | rs765430501 |
| SNPdbe | rs765430501 |
| MSV3d | rs765430501 |
| GWAS Ctlg | rs765430501 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs765430501(A;A) |
| Alt | rs765430501(A;A) |
| Reference | Rs765430501(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified not provided |
| Variation | info |
| Gene | COL6A2 |
| CLNDBN | not specified not provided |
| Reversed | 0 |
| HGVS | NC_000021.8:g.47539720G>A |
| CLNSRC | |
| CLNACC | RCV000299837.1, RCV000490233.1, |
