rs398124246
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs398124246(C;C) |
| Make rs398124246(C;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 9 |
| Position | 131508935 |
| Gene | POMT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398124246 |
| dbSNP (classic) | rs398124246 |
| ClinGen | rs398124246 |
| ebi | rs398124246 |
| HLI | rs398124246 |
| Exac | rs398124246 |
| Gnomad | rs398124246 |
| Varsome | rs398124246 |
| LitVar | rs398124246 |
| Map | rs398124246 |
| PheGenI | rs398124246 |
| Biobank | rs398124246 |
| 1000 genomes | rs398124246 |
| hgdp | rs398124246 |
| ensembl | rs398124246 |
| geneview | rs398124246 |
| scholar | rs398124246 |
| rs398124246 | |
| pharmgkb | rs398124246 |
| gwascentral | rs398124246 |
| openSNP | rs398124246 |
| 23andMe | rs398124246 |
| SNPshot | rs398124246 |
| SNPdbe | rs398124246 |
| MSV3d | rs398124246 |
| GWAS Ctlg | rs398124246 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs398124246(C;C) |
| Alt | rs398124246(C;C) |
| Reference | Rs398124246(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | POMT1 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000009.11:g.134384322G>C |
| CLNSRC | |
| CLNACC | RCV000081491.5, |
