rs367852554
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs367852554(A;A) |
| Make rs367852554(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 16 |
| Position | 8811183 |
| Gene | PMM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs367852554 |
| dbSNP (classic) | rs367852554 |
| ClinGen | rs367852554 |
| ebi | rs367852554 |
| HLI | rs367852554 |
| Exac | rs367852554 |
| Gnomad | rs367852554 |
| Varsome | rs367852554 |
| LitVar | rs367852554 |
| Map | rs367852554 |
| PheGenI | rs367852554 |
| Biobank | rs367852554 |
| 1000 genomes | rs367852554 |
| hgdp | rs367852554 |
| ensembl | rs367852554 |
| geneview | rs367852554 |
| scholar | rs367852554 |
| rs367852554 | |
| pharmgkb | rs367852554 |
| gwascentral | rs367852554 |
| openSNP | rs367852554 |
| 23andMe | rs367852554 |
| SNPshot | rs367852554 |
| SNPdbe | rs367852554 |
| MSV3d | rs367852554 |
| GWAS Ctlg | rs367852554 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs367852554(A;A) |
| Alt | rs367852554(A;A) |
| Reference | Rs367852554(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PMM2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.8905040G>A |
| CLNSRC | |
| CLNACC | RCV000487388.1, |
