rs116608946
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs116608946(A;A) |
| Make rs116608946(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 237350158 |
| Gene | COL6A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116608946 |
| dbSNP (classic) | rs116608946 |
| ClinGen | rs116608946 |
| ebi | rs116608946 |
| HLI | rs116608946 |
| Exac | rs116608946 |
| Gnomad | rs116608946 |
| Varsome | rs116608946 |
| LitVar | rs116608946 |
| Map | rs116608946 |
| PheGenI | rs116608946 |
| Biobank | rs116608946 |
| 1000 genomes | rs116608946 |
| hgdp | rs116608946 |
| ensembl | rs116608946 |
| geneview | rs116608946 |
| scholar | rs116608946 |
| rs116608946 | |
| pharmgkb | rs116608946 |
| gwascentral | rs116608946 |
| openSNP | rs116608946 |
| 23andMe | rs116608946 |
| SNPshot | rs116608946 |
| SNPdbe | rs116608946 |
| MSV3d | rs116608946 |
| GWAS Ctlg | rs116608946 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs116608946(A;A) |
| Alt | rs116608946(A;A) |
| Reference | Rs116608946(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Collagen VI-related myopathy |
| Variation | info |
| Gene | COL6A3 |
| CLNDBN | not specified Collagen VI-related myopathy |
| Reversed | 0 |
| HGVS | NC_000002.11:g.238258801G>A |
| CLNSRC | |
| CLNACC | RCV000149954.3, RCV000369192.1, |
